Syndrome /syndrome/ (sindrom) Aarskog syndrome Aarskog-Scott syndrome a hereditary X-linked condition characterized by ocular hypertelorism, ante erted

nostrils, broad upper lip, peculiar scrotal !sha"l! abo e the penis, and small hands# Ac$uired immune de%iciency syndrome Ac$uired immunode%iciency syndrome an epidemic, transmissible retro iral disease caused by in%ection "ith the human immunode%iciency irus, mani%ested in se ere cases as pro%ound depression o% cell-mediated immunity, and a%%ecting certain recognized risk groups# &iagnosis is by the presence o% a disease indicati e o% a de%ect in cell-mediated immunity (e#g#, li%e- threatening opportunistic in%ection) in the absence o% any kno"n causes o% underlying immunode%iciency or o% any other host de%ense de%ects reported to be associated "ith that disease (e#g#, iatrogenic immunosuppression)# Acute coronary syndrome A classi%ication encompassing clinical presentations ranging %rom unstable angina through non, sometimes also including ' "a e in%arction# Acute radiation syndrome A syndrome caused by e(posure to a "hole body dose o% o er ) gray o% ionizing radiation* symptoms, "hose se erity and time o% onset depend on the size o% the dose, include erythema, nausea and omiting, %atigue, diarrhea, petechiae, bleeding %rom the mucous membranes, hematologic changes, gastrointestinal hemorrhage, epilation, hypotension, tachycardia, and dehydration* death may occur "ithin hours or "eeks o% e(posure# Acute respiratory distress syndrome (A+&S) ,ulminant pulmonary interstitial and al eolar edema, "hich usually de elops "ithin a %e" days a%ter the initiating trauma, thought to result %rom al eolar in-ury that has led to increased capillary permeability# Acute retinal necrosis syndrome .ecrotizing retinitis "ith u eitis and other retinal pathology, se ere loss o% ision, and o%ten retinal detachment* o% iral etiology# Adams-Stokes syndrome /pisodic cardiac arrest and syncope due to %ailure o% normal and escape pacemakers, "ith or "ithout entricular %ibrillation* the principal mani%estation o% se ere heart attack#

Addisonian syndrome 0he comple( o% symptoms resulting %rom adrenocortical insu%%iciency* see Addison1s disease, under disease# Adie1s syndrome 0onic pupil associated "ith absence or diminution o% certain tendon re%le(es# Adrenogenital syndrome A group o% syndromes in "hich inappropriate irilism or %eminization results %rom disorders o% adrenal %unction that also a%%ect gonadal steroidogenesis# A/2 syndrome 3ay-4ells s# A%%erent loop syndrome 2hronic partial obstruction o% the pro(imal loop (duodenum and -e-unum) a%ter gastro-e-unostomy, resulting in duodenal distention, pain, and nausea %ollo"ing ingestion o% %ood# Ahumada-del 2astillo syndrome 5alactorrhea-amenorrhea syndrome "ith lo" gonadotropin secretion# Akinetic-rigid syndrome 6uscular rigidity "ith arying degrees o% slo"ness o% mo ement* seen in parkinsonism and disorders o% the basal ganglia# Alagille syndrome 7nherited neonatal -aundice, cholestasis "ith peripheral pulmonic stenosis, unusual %acies, and ocular, ertebral, and ner ous system abnormalities, due to paucity or absence o% intrahepatic bile ducts# Albright1s syndrome Albright-6c2une-Sternberg syndrome polyostotic %ibrous dysplasia, patchy dermal pigmentation, and endocrine dys%unction# Aldrich1s syndrome 4iskott-Aldrich s# Allgro e1s syndrome 7nherited glucocorticoid de%iciency "ith achalasia and alacrima#

Alport1s syndrome A hereditary disorder marked by progressi e ner e dea%ness, progressi e pyelonephritis or glomerulonephritis, and occasionally ocular de%ects# Alstr8m syndrome A hereditary syndrome o% retinitis pigmentosa "ith nystagmus and early loss o% central ision, dea%ness, obesity, and diabetes mellitus# Amnestic syndrome A mental disorder characterized by impairment o% memory occurring in a normal state o% consciousness* the most common cause is thiamine de%iciency associated "ith alcohol abuse# amniotic band syndrome see under se$uence# Angelman1s syndrome 3appy puppet s# Angular gyrus syndrome A syndrome resulting %rom an in%arction or other lesion o% the angular gyrus on the dominant side, o%ten characterized by ale(ia or agraphia# Ankyloblepharon!ectodermal dysplasia!cle%ting syndrome 3ay-4ells s# Anore(ia-cache(ia syndrome A systemic response to cancer occurring as a result o% a poorly understood relationship bet"een anore(ia and cache(ia, mani%ested by malnutrition, "eight loss, muscular "eakness, acidosis, and to(emia# Anterior cord syndrome Anterior spinal artery s# Anterior interosseous syndrome A comple( o% symptoms caused by a lesion o% the anterior interosseous ner e, usually resulting %rom a %racture or laceration# Anterior spinal artery syndrome 9ocalized in-ury to the anterior portion o% the spinal cord, characterized by complete paralysis and hypalgesia and hypesthesia to the le el o% the lesion, but "ith relati e preser ation o% posterior column sensations o% touch,

position, and ibration# Apert1s syndrome Acrocephalosyndactyly, type 7* an autosomal dominant disorder characterized by acrocephaly and syndactyly, o%ten "ith other skeletal de%ormities and mental retardation# Asherman1s syndrome :ersistent amenorrhea and secondary sterility due to intrauterine adhesions and synechiae, usually as a result o% uterine curettage# Asperger1s syndrome A per asi e de elopmental disorder resembling autistic disorder, being characterized by se ere impairment o% social interactions and by restricted interests and beha iors* ho"e er, patients are not delayed in de elopment o% language, cogniti e %unction, and sel%-help skills# Adrenogenital syndrome &isorder o% se(ual de elopment or %unction associated "ith abnormal adrenocortical %unction resulting %rom bilateral adrenal hyperplasia, carcinoma, or adenoma# :seudohermaphroditism occurs congenitally, and masculinization occurs later in %emales# :recocious se(ual de elopment and occasionally %eminization occur in males# A3;: syndrome Adiposity, 3yperthermia, ;ligomenorrhea, and :arotitis appearing in %emales# :arotid gland enlargement begins at puberty and is %ollo"ed by obesity, oligomenorrhea, and psychic disturbances# Apert syndrome 2raniostenosis characterized by o(ycephaly and syndactyly o% the hands and %eet# ,acial mani%estations include e(ophthalmos, high prominent %orehead, small nose, and mal%ormation o% the mandible and oral ca ity# Also called acrocephalosyndactyly# Ascher syndrome Syndrome consisting o% double lip, a redundance o% the skin o% the eyelids (blepharochalasis), and nonto(ic thyroid enlargement# 0he sagging eyelids are ob ious "hen the eyes are open* the double lip is seen "hen the patient smiles# Auriculotemporal Syndrome

See disease, autoimmune# <arrett1s syndrome peptic ulcer o% the lo"er esophagus, o%ten "ith stricture, due to the presence o% columnar-lined epithelium, "hich may contain %unctional mucous cells, parietal cells, or chie% cells, in the esophagus instead o% normal s$uamous cell epithelium# <artter syndrome A hereditary %orm o% hyperaldosteronism secondary to hypertrophy and hyperplasia o% the -u(taglomerular cells, "ith normal blood pressure and hypokalemic alkalosis in the absence o% edema, increased concentration o% renin, angiotensin 77, and bradykinin* usually occurring in children#

<asal cell ne us syndrome Autosomal dominant syndrome characterized by the de elopment in early li%e o% numerous basal cell carcinomas, in association "ith abnormalities o% the skin, bone, ner ous system, eyes, and reproducti e tract# <assen-=ornz"eig syndrome Abetalipoproteinemia# <attered-child syndrome 6ultiple traumatic lesions o% the bones and so%t tissues o% children, o%ten accompanied by subdural hematomas, "ill%ully in%licted by an adult# <eck"ith-4iedemann syndrome An inherited disorder characterized by e(omphalos, macroglossia, and gigantism, o%ten associated "ith isceromegaly, adrenocortical cytomegaly, and dysplasia o% the renal medulla# <eh>et1s syndrome Se ere u eitis and retinal asculitis, optic atrophy, and aphtha-like lesions o% the mouth and genitalia, o%ten "ith other signs and symptoms suggesting a di%%use asculitis* it most o%ten a%%ects young males# <ernard-Soulier syndrome A hereditary coagulation disorder marked by mild thrombocytopenia, giant and morphologically abnormal platelets, hemorrhagic tendency, prolonged bleeding time, and purpura# <ing-.eel syndrome

0he central ner ous system mani%estations o% 4aldenstr8m1s macroglobulinemia, possibly including encephalopathy, hemorrhage, stroke, con ulsions, delirium, and coma# <irt-3ogg-&ub? syndrome An inherited disorder o% proli%eration o% ectodermal and mesodermal components o% the pilar system, occurring as multiple trichodiscomas, acrochordons, and %ibro%olliculomas on the head, chest, back, and upper limbs# <lack%an-&iamond syndrome 2ongenital hypoplastic anemia# <lue toe syndrome Skin necrosis and ischemic gangrene mani%est as a blue color o% the toes, resulting %rom arterial occlusion, usually caused by emboli, thrombi, or in-ury# <oerhaa e1s syndrome Spontaneous rupture o% the esophagus# <8r-eson1s syndrome ,( <8r-eson-,orssman-9ehmann syndrome) A hereditary syndrome, transmitted as an X-linked recessi e trait, characterized by se ere mental retardation, epilepsy, hypogonadism, hypometabolism, marked obesity, s"elling o% the subcutaneous tissues o% the %ace, and large ears# <o"el bypass syndrome Asyndrome o% dermatosis and arthritis occurring some time a%ter -e-unoileal bypass, probably caused by immune reponse to bacterial o ergro"th in the bypassed bo"el#

<radbury-/ggleston syndrome A progressi e syndrome o% postural hypotension "ithout tachycardia but "ith isual disturbances, impotence, hypohidrosis, lo"ered metabolic rate, dizziness, syncope, and slo" pulse* due to impaired peripheral asoconstriction# bradycardia-tachycardia syndrome , brady-tachy syndrome a clinical mani%estation o% the sick sinus syndrome characterized by alternating periods o% bradycardia and tachycardia# <ro"n-S?$uard syndrome

7psilateral paralysis and loss o% discriminatory and -oint sensation, and contralateral loss o% pain and temperature sensation* due to damage to one hal% o% the spinal cord# <ro"n-@ialetto- an 9aere syndrome an inherited syndrome o% progressi e bulbar palsy "ith any o% se eral cranial ner e disorders# <udd-2hiari syndrome Symptomatic obstruction or occlusion o% the hepatic eins, causing hepatomegaly, abdominal pain and tenderness, intractable ascites, mild -aundice, and e entually portal hypertension and li er %ailure# <eh>et1s syndrome, +ecurrent iritis and aphthous ulcers o% the oral ca ity and genitalia# ;ther mani%estations include arthralgia, hydrarthrosis, s"elling o% the sali ary glands, cutaneous eruptions, and central ner ous system disorders syndrome, <loch-Su <ogarad syndrome See syndrome, auriculotemporal# <88k1s syndrome Syndrome characterized by premature graying o% the hair, hyperhidrosis, and premolar hypodontia# <ourne ille-:ringle syndrome (epiloia) .eurocutaneous comple( consisting o% adenoma sebaceum, mental de%iciency, and epilepsy# <urning mouth syndrome(<6S) A condition characterized by a burning sensation in the oral ca ity, despite the absence o% any isible irritation to the mucous membranes# 2a%%ey1s syndrome 2a%%ey-Sil erman syndrome in%antile cortical hyperostosis# 2anada-2ronkhite syndrome 2ronkhite-2anada s# 2apillary leak syndrome /(tra asation o% plasma %luid and proteins into the e(tra ascular space, resulting in sometimes %atal hypotension and reduced organ per%usion* an ad erse e%%ect o% interleukin-A

therapy# 2arcinoid syndrome A symptom comple( associated "ith carcinoid tumors, marked by attacks o% cyanotic %lushing o% the skin and "atery diarrhea, bronchoconstricti e attacks, sudden drops in blood pressure, edema, and ascites# Symptoms are caused by tumor secretion o% serotonin, prostaglandins, and other biologically acti e substances#

2arotid sinus syndrome Sometimes associated "ith con ulsions due to o eracti ity o% the carotid sinus re%le( "hen pressure is applied to one or both carotid sinuses# 2arpal tunnel syndrome :ain and burning or tingling paresthesias in the %ingers and hand, sometimes e(tending to the elbo", due to compression o% the median ner e in the carpal tunnel# 6edian ner e entrapped in carpal tunnel in carpal tunnel syndrome# 2arpenter1s syndrome Acrocephalopolysyndactyly, type 77* an autosomal recessi e disorder characterized by acrocephaly, polysyndactyly, brachydactyly, mild obesity, mental retardation, hypogonadism, and other anomalies# 2entral cord syndrome 7n-ury to the central part o% the cer ical spinal cord resulting in disproportionately more "eakness or paralysis in the upper limbs than in the lo"er* pathological change is caused by hemorrhage or edema# 2erebrocostomandibular syndrome An inherited syndrome o% se ere micrognathia and costo ertebral abnormalities, "ith palatal de%ects, prenatal and postnatal gro"th de%iciencies, and mental retardation# 2erebrohepatorenal syndrome A hereditary disorder, transmitted as an autosomal recessi e trait, characterized by cranio%acial abnormalities, hypotonia, hepatomegaly, polycystic kidneys, -aundice, and death in early in%ancy# 2er ical rib syndrome 0horacic outlet syndrome caused by a cer ical rib# 2estan1s syndrome

2estan-2henais syndrome an association o% contralateral hemiplegia, contralateral hemianesthesia, ipsilateral lateropulsion and hemiasynergia, 3orner1s syndrome, and ipsilateral laryngoplegia, due to scattered lesions o% the pyramid, sensory tract, in%erior cerebellar peduncle, nucleus ambiguus, and oculopupillary center# 2harcot1s syndrome )# Amyotrophic lateral sclerosis# A# 7ntermittent claudication# 2harcot-6arie syndrome 2harcot-6arie-0ooth disease# 23A+5/ syndrome See under association# 2h?diak-3igashi syndrome A lethal, progressi e, autosomal recessi e, systemic disorder associated "ith oculocutaneous albinism, massi e leukocyte inclusions (giant lysosomes), histiocytic in%iltration o% multiple body organs, de elopment o% pancytopenia, hepatosplenomegaly, recurrent or persistent bacterial in%ections, and a possible predisposition to de elopment o% malignant lymphoma# 2hinese restaurant syndrome 0ransient arterial dilatation due to ingestion o% monosodium glutamate, "hich is sometimes used liberally in seasoning 2hinese %ood, marked by throbbing head, lightheadedness, tightness o% the -a", neck, and shoulders, and backache# 2hotzen1s syndrome (Acrocephalosyndactyly, type 777) An autosomal dominant disorder characterized by acrocephaly and syndactyly in "hich the latter is mild and by hypertelorism, ptosis, and sometimes mental retardation# 2hrist-Siemens-0ouraine syndrome Anhidrotic ectodermal dysplasia# 2hronic %atigue syndrome :ersistent debilitating %atigue o% recent onset, "ith greatly reduced physical acti ity and some combination o% muscle "eakness, sore throat, mild %e er, tender lymph nodes, headaches, and depression, not attributable to any other kno"n causes* it is o% contro ersial etiology# 2hurg-Strauss syndrome Allergic granulomatous angiitis* a systemic %orm o% necrotizing asculitis in "hich there is

prominent lung in ol ement# 2hylomicronemia syndrome ,amilial hyperchylomicronemia# 2o%%in-9o"ry syndrome An X-linked syndrome o% incapability o% speech, se ere mental de%iciency, and muscle, ligament, and skeletal abnormalities# 2o%%in-Siris syndrome 3ypoplasia o% the %i%th %ingers and toenails associated "ith gro"th and mental de%iciencies, coarse %acies, mild microcephaly, hypotonia, la( -oints, and mild hirsutism# 2ompartmental syndrome A condition in "hich increased tissue pressure in a con%ined anatomic space causes decreased blood %lo" leading to ischemia and dys%unction o% contained myoneural elements, marked by pain, muscle "eakness, sensory loss, and palpable tenseness in the in ol ed compartment* ischemia can lead to necrosis resulting in permanent impairment o% %unction# 2ongenital rubella syndrome 7n%ection o% the %etus "ith rubella, usually in the %irst trimester o% pregnancy, as a conse$uence o% maternal in%ection, resulting in arious de elopmental anomalies in the ne"born in%ant# 2onn1s syndrome :rimary aldosteronism# 2ri du chat syndrome A hereditary congenital syndrome characterized by hypertelorism, microcephaly, se ere mental de%iciency, and a plainti e catlike cry, due to deletion o% the short arm o% chromosome B# 2rigler-.a--ar syndrome An autosomal recessi e %orm o% nonhemolytic -aundice due to absence o% the hepatic enzyme glucuronide trans%erase, marked by e(cessi e amounts o% uncon-ugated bilirubin in the blood, kernicterus, and se ere central ner ous system disorders# 2rocodile tears syndrome Spontaneous lacrimation occurring parallel "ith the normal sali ation o% eating, and associated "ith %acial paralysis* it seems to be due to straying o%

regenerating ner e %ibers, some o% those destined %or the sali ary glands going to the lacrimal glands#

2ronkhite-2anada syndrome ,amilial polyposis o% the gastrointestinal tract associated "ith ectodermal de%ects such as alopecia and onychodystrophy# 2ro"-,ukase syndrome :;/6S s# 2rush syndrome 0he edema, oliguria, and other symptoms o% renal %ailure that %ollo" crushing o% a part, especially a large muscle mass* see lo"er nephron nephrosis, under nephrosis# 2ru eilhier-<aumgarten syndrome 2irrhosis "ith portal hypertension associated "ith congenital patency o% the umbilical and paraumbilical eins# 2a%%ey-Sil erman syndrome See hyperostosis, in%antile cortical# 2hrist-Siemens-0ouraine syndrome See hypohidrotic ectodermal dysplasia# 2osten1s syndrome, &iscom%ort, pain, and -a" pathosis claimed by 2osten to be caused by lack o% posterior occlusion, loss o% ertical dimension, malocclusion, trismus, or muscle tremor# 2racked tooth syndrome A condition caused by a cracked tooth, resulting in pain "hen che"ing or applying other pressures or "hen in contact "ith cold substances# 0he crack may occur only on the enamel, or it may e(tend into the pulp# 2+/S0 syndrome, A syndrome in "hich the initial letters o% the clinical signs %orm the acronym 2+/S0C , 2alcinosis, +aynaud1s phenomenon, /sophageal dys%unction, Sclerodactyly, and

0elangiectasia* it is a slo"ly progressi e disease in "hich calcium deposits usually %orm under the skin on the %ingers and sometimes on other areas o% the body* e(posure to cold or stress causes pain in the %ingers or toes* there is di%%iculty s"allo"ing and acid re%lu(* there is 0ightening and thickening o% the skin causing the %ingers to bend* and small red spots %orm on the skin o% the %ingers, %ace, or inside o% the oral ca ity# 7t is a %orm o% scleroderma that is diagnosed "hen at least t"o o% these clinical signs are present# 2ri-du-chat syndrome 2linical syndrome associated "ith the deletion o% the short arm o% a < chromosome# 6ani%estations include mental retardation, arious congenital abnormalities, and an in%ant cry resembling the me"ing o% a cat# 2rouzon syndrome A group o% genetically inherited diseases characterized by mid%acial hypoplasia, craniosynostosis, e(ophthalmos, and short head# 0hought to be caused by a genetic mutation o% the ,5,+D gene, located on chromosome )E#

2ushing1s syndrome A condition, more commonly seen in %emales, due to hyperadrenocorticism resulting %rom neoplasms o% the adrenal corte( or anterior lobe o% the pituitary* or to prolonged e(cessi e intake o% glucocorticoids %or therapeutic purposes (iatrogenic 2ushing1s s# or 2ushing1s s# medicamentosus)# 0he symptoms may include adiposity o% the %ace, neck, and trunk, kyphosis caused by so%tening o% the spine, amenorrhea, hypertrichosis (in %emales), impotence (in males), dusky comple(ion "ith purple markings, hypertension, polycythemia, pain in the abdomen and back, and muscular "eakness# &a 2osta syndrome .eurocirculatory asthenia# &andy-4alker syndrome 2ongenital hydrocephalus due to obstruction o% the %oramina o% 6agendie and 9uschka# &e-ean1s syndrome ;rbital %loor s# &"ar%ism syndrome 7mmaturity, and pseudosenility# :atient appears to be bald and elderly at an early age# 3ypoplasia o% the mandible occurs, and the %ace is small in relation to the neurocranium#

&e 9ange1s syndrome A congenital syndrome o% mental retardation, short stature (Amsterdam d"ar%), %lat spadelike hands, and other anomalies# &ialysis dyse$uilibrium syndrome Symptoms such as headache, nausea, muscle cramps, ner ous irritability, dro"siness, and con ulsions during or a%ter o erly rapid hemodialysis or peritoneal dialysis, resulting %rom an osmotic shi%t o% "ater into the brain# &isconnection syndrome Any neurologic disorder caused by an interruption in impulse transmission along cerebral %iber path"ays# &o"n syndrome 6ongoloid %eatures, short phalanges, "idened space bet"een the %irst and second toes and %ingers, and moderate to se ere mental retardation* associated "ith a chromosomal abnormality, usually trisomy o% chromosome A)# &rash syndrome An inherited syndrome o% 4ilms1 tumor "ith glomerulopathy and male pseudohermaphroditism# &ubin-Fohnson syndrome 3ereditary chronic nonhemolytic -aundice thought to be due to de%ecti e e(cretion o% con-ugated bilirubin and certain other organic anions by the li er* a bro"n, coarsely granular pigment in hepatic cells is pathognomonic# &umping syndrome .ausea, "eakness, s"eating, palpitation, syncope, o%ten a sensation o% "armth, and sometimes diarrhea, occurring a%ter ingestion o% %ood in patients "ho ha e undergone partial gastrectomy# &yscontrol syndrome Apattern o% episodic abnormal and o%ten iolent and uncontrollable social beha ior "ith little or no pro ocation* it may ha e an organic cause or be associated "ith abuse o% a psychoacti e substance# &ysmaturity syndrome :ostmaturity s#

/aton-9ambert syndrome Amyasthenia-like syndrome in "hich the "eakness usually a%%ects the limbs and ocular and bulbar muscles are spared* o%ten associated "ith oat-cell carcinoma o% the lung# //2 syndrome (ectrodactyly!ectodermal dysplasia!cle%ting s) An inherited congenital syndrome in ol ing both ectodermal and mesodermal tissues, characterized by ectodermal dysplasia "ith hypopigmentation o% skin and hair, and other hair, nail, tooth, lip, and palate abnormalities# /hlers-&anlos syndrome A group o% inherited disorders o% connecti e tissue, arying in clinical and biochemical e idence, in mode o% inheritance, and in se erity %rom mild to lethal* ma-or mani%estations include hypere(tensible skin and -oints, easy bruisability, %riability o% tissues, bleeding, poor "ound healing, subcutaneous nodules, and cardio ascular, orthopedic, intestinal, and ocular de%ects# /isenmenger1s syndrome @entricular septal de%ect "ith pulmonary hypertension and cyanosis due to rightto-le%t (re ersed) shunt o% blood# Sometimes de%ined as pulmonary hypertension (pulmonary ascular disease) and cyanosis "ith the shunt being at the atrial, entricular, or great essel area# /65 syndrome <eck"ith-4iedemann s# /scobar syndrome 6ultiple pterygium s# /(cited skin syndrome .onspeci%ic cutaneous hyperirritability o% the back, sometimes occurring "hen multiple positi e reactions are elicited in patch test screening o% a battery o% substances# /(omphalos-macroglossia-gigantism syndrome <eck"ith-4iedemann s# /(trapyramidal syndrome Any o% a group o% clinical disorders considered to be due to mal%unction in the e(trapyramidal system and marked by abnormal in oluntary mo ements* included are parkinsonism, athetosis, and chorea# /hlers-&anlos syndrome A congenital or %amilial disorder characterized by %ragility o% the skin and blood

essels, hyperla(ity o% the -oints, hyperelasticity o% the skin, subcutaneous pseudotumors, and tendency to hemorrhage postoperati ely# /kman1s syndrome See osteogenesis imper%ecta# /llis- an 2re eld syndrome See chondroectodermal dysplasia# ,eer1s,syndrome See acrodynia# ,etal hydantoin syndrome &isorder de eloping in children "ho ha e been e(posed to anticon ulsant therapy during the mother1s pregnancy* indicated by mental de%iciency, gro"th retardation, cranio%acial abnormalities, cle%t palate or lip, and congenital heart de%ects# ,rey syndrome (auriculotemporal syndrome, gustatory s"eating syn#) S"eating and %lushing in the preauricular and temporal areas "hen certain %oods are eaten# 0hought to be related to parotid gland trauma or a complication o% parotidectomy# ,r8hlich1s syndrome (adiposogenital dystrophy) Adiposity and genital hypoplasia resulting %rom hypopituitarism or hypothalamohypophysdystrophy# ,aber1s syndrome 3ypochromic anemia# ,anconi syndrome )# A rare hereditary disorder, transmitted as an autosomal recessi e trait, characterized by pancytopenia, hypoplasia o% the bone marro", and patchy bro"n discoloration o% the skin due to the deposition o% melanin, and associated "ith multiple congenital anomalies o% the musculoskeletal and genitourinary systems# A# A general term %or a group o% diseases marked by dys%unction o% the pro(imal

renal tubules, "ith generalized hyperaminoaciduria, renal glycosuria, hyperphosphaturia, and bicarbonate and "ater loss* the most common cause is cystinosis, but it is also associated "ith other genetic diseases and occurs in idiopathic and ac$uired %orms# ,arber syndrome, ,arber-Gzman syndrome ,arber1s disease# ,elty1s syndrome A syndrome o% splenomegaly "ith chronic rheumatoid arthritis and leukopenia* there are usually pigmented spots on the skin o% the lo"er e(tremities, and sometimes there is other e idence o% hypersplenism such as anemia or thrombocytopenia# ,etal alcohol syndrome A syndrome o% altered prenatal gro"th and morphogenesis, occurring in in%ants born o% "omen "ho "ere chronically alcoholic during pregnancy* it includes ma(illary hypoplasia, prominence o% the %orehead and mandible, short palpebral %issures, microophthalmia, epicanthal %olds, se ere gro"th retardation, mental retardation, and microcephaly# ,etal hydantoin syndrome :oor gro"th and de elopment "ith cranio%acial and skeletal abnormalities, produced by prenatal e(posure to hydantoin analogues, including phenytoin#

,loppy in%ant syndrome Abnormal posture in an in%ant suspended prone, the limbs and head hanging do"n* due to any o% numerous conditions, particularly perinatal in-ury to the brain or spinal cord, spinal muscular atrophy, and arious genetic disorders# ,oi(-Ala-ouanine syndrome A %atal necrotizing myelopathy characterized by necrosis o% the gray matter o% the spinal cord, thickening o% the "alls o% the spinal essels, and abnormal spinal %luid# ,ranceschetti syndrome 0he complete %orm o% mandibulo%acial dysostosis# 5alactorrhea-amenorrhea syndrome Amenorrhea and galactorrhea, sometimes associated "ith increased le els o%

prolactin# 5anser syndrome 0he gi ing o% appro(imate ans"ers to $uestions, commonly associated "ith amnesia, disorientation, perceptual disturbances, %ugue, and con ersion symptoms# 5arcin1s syndrome Gnilateral paralysis o% most or all o% the cranial ner es due to a tumor at the base o% the skull or in the nasopharyn(# 5ardner1s syndrome ,amilial polyposis o% the colon associated "ith osseous and so%t tissue tumors# 5ay bo"el syndrome An assortment o% se(ually transmitted bo"el and rectal diseases a%%ecting homose(ual males and others "ho engage in anal intercourse, caused by a "ide ariety o% in%ectious agents# 5eneral adaptation syndrome 0he total o% all nonspeci%ic reactions o% the body to prolonged systemic stress, comprising alarm, resistance, and e(haustion# 5erstmann-StrHussler syndrome 5erstmann-StrHussler-Scheinker syndrome a group o% rare prion diseases o% autosomal dominant inheritance, ha ing the common characteristics o% cogniti e and motor disturbances, ending in death, and the presence o% multicentric amyloid pla$ues in the brain# 5ianotti-2rosti syndrome 6onomorphous, usually nonpruritic, dusky or coppery red, %lat-topped, %irm papules %orming a symmetrical eruption on the %ace, buttocks, and limbs, including the palms and soles, "ith malaise and lo"-grade %e er* seen in young children and associated "ith iral in%ection# 5illes de la 0ourette1s syndrome 2hildhood-onset syndrome comprising both multiple motor and one or more ocal tics, o%ten associated "ith obsessions, compulsions, hyperacti ity, distractibility, and impulsi ity* it may diminish or e en remit in adolescence or adulthood# 5oodpasture1s syndrome

5lomerulonephritis "ith pulmonary hemorrhage and circulating antibodies against basement membranes, usually seen in young men and "ith a course o% rapidly progressing renal %ailure, "ith hemoptysis, pulmonary in%iltrates, and dyspnea#

5radenigo1s syndrome Si(th ner e palsy and unilateral headache in suppurati e disease o% the middle ear, due to in ol ement o% the abducens and trigeminal ner es by direct spread o% the in%ection# 5ray syndrome A potentially %atal condition seen in neonates, particularly premature in%ants, due to a reaction to chloramphenicol, characterized by an ashen gray cyanosis, listlessness, "eakness, and hypotension# 5uillain-<arr? syndrome Acute idiopathic polyneuritis# 5unn1s syndrome Gnilateral ptosis o% the eyelid, "ith mo ements o% the a%%ected eyelid associated "ith those o% the -a"# 5ardner1s syndrome, 0he de elopment o% multiple osteomas, polyposis o% the large bo"el, epidermoid or sebaceous cysts, and cutaneous %ibromas# 5eneral adaptation syndrome (adaptation syndrome, 5AS), A three-stage physiologic response to physical or psychologic stress# 0he %irst stage is the alarm reaction, consisting o% bodily changes typical o% emotion# A second stage is resistance to stress, "herein an attempt is made to adapt to the physiologic changes# 2ertain hormones o% the anterior pituitary gland and the adrenal corte( hypersecrete to increase resistance# Such resistance leads to diseases o% adaptation, such as hypertension# 2ontinual stress results in the third stage, e(haustion# 5oldscheider1s syndrome &ystrophic %orm o% epidermolysis bullosa, leading to scars# 0he disturbance is inherited on an autosomal dominant or recessi e basis# 0his %orm o% epidermolysis bullosa leads to retardation o% mental and physical gro"th# See also syndrome, 4eber-2ockayne#

5orlin syndrome (ne oid basal cell carcinoma syndrome) See syndrome, ne oid basal cell carcinoma# 5reig1s syndrome A condition mani%ested by ocular hypertelorism, o%ten mental retardation, ectodermal and mesodermal abnormalities, and dental and oral anomalies# 5unn1s syndrome See syndrome, -a"-"inking# 5ustatory hyperhidrosis syndrome See syndrome, auriculotemporal# 5ustatory s"eating syndrome See syndrome, auriculotemporal# 3eer%ordt1s syndrome See %e er, u eoparotid# 3orner1s syndrome A tetrad o% symptoms resulting %rom paralysis o% the cer ical sympathetic trunkC pupillary constriction, ptosis o% the upper eyelid, dilation o% the orbital blood essels (redness o% con-uncti a), and blushing and anhidrosis o% the side o% the %ace# 3urler1s syndrome (mucopolysaccharidosis 7 3, gargoylism, dysostosis multiple() A inheritable disorder o% mucopolysaccharide metabolism in "hich e(cessi e acid mucopolysaccharidesIdermatan sul%ate and heparitin sul%ateIare made and stored in the tissues# 2linical mani%estations include hypertelorism, open oral ca ity "ith large-appearing tongue, thick eyelids and lips, anomalies o% the teeth, and short, broad neck# 0he skeletal and %acial de%ormities resemble the gargoyles o% 5othic architecture# 6ental retardation, corneal clouding, hepatosplenomegaly, dea%ness, and cardiac de%ects are present# 3utchinson-5il%ord syndrome (progeria) 3amman-+ich syndrome 0he acute %orm o% idiopathic pulmonary %ibrosis#

3and-SchJller-2hristian syndrome See under disease# 3anta irus pulmonary syndrome Sometimes %atal %ebrile illness caused by a hanta irus, characterized by ariable respiratory symptoms %ollo"ed by acute respiratory distress, sometimes progressing to respiratory %ailure# 3appy puppet syndrome An inherited syndrome o% -erky puppetlike mo ements, %re$uent laughter, mental and motor retardation, peculiar open-mouthed %acies, and seizures# 3arada syndrome @ogt-=oyanagi-3arada s# 3ay-4ells syndrome An inherited syndrome o% ectodermal dysplasia, cle%t lip and palate, and adhesions o% the margins o% the eyelids, accompanied by tooth, skin, and hair abnormalities# 3/99: syndrome 3emolysis,/le ated 9i er enzymes, and 9o" platelet count occurring in association "ith preeclampsia# 3el"eg-9arsen1s syndrome An inherited syndrome o% anhidrosis present %rom birth and labyrinthitis occurring late in li%e# 3emolytic uremic syndrome A %orm o% thrombotic microangiopathy "ith renal %ailure, hemolytic anemia, and se ere thrombocytopenia and purpura# 3errmann1s syndrome An inherited syndrome initially characterized by photomyogenic seizures and progressi e dea%ness, "ith later de elopment o% diabetes mellitus, nephropathy, and mental deterioration# 333 syndrome 3yperornithinemia-hyperammonemia-homocitrullinuria s#

3inman syndrome A psychogenic disorder seen in children, imitating a neurogenic bladder, consisting o% detrusorsphincter dyssynergia "ithout e idence o% neural lesion# 3orner syndrome 3orner-<ernard s# sinking in o% the eyeball,ptosis o% the upper lid,slight ele ation o% the lo"er lid, miosis, narro"ing o% the palpebral %issure, and anhidrosis and %lushing o% the a%%ected side o% the %ace* due to a brain stem lesion on the ipsilateral side that interrupts descending symp# ner es# 3ughes-Sto in syndrome 0hrombosis o% the pulmonary arteries and peripheral eins, characterized by headache, %e er, cough, papilledema, and hemoptysis# 3urler1s syndrome An inherited mucopolysaccharidosis due to de%iciency o% the enzyme a-liduronidase, characterized by gargoyle-like %acies, d"ar%ism, se ere somatic and skeletal changes, se ere mental retardation, cloudy corneas, dea%ness, cardio ascular de%ects, hepatosplenomegaly, -oint contractures, and death in childhood# 3utchinson-5il%ord syndrome :rogeria# 3ypereosinophilic syndrome Any o% se eral diseases characterized by a massi e increase in the number o% eosinophils in the blood and bone marro", "ith in%iltration o% other organs# Symptoms ary %rom mild to the o%ten %atal outcome o% eosinophilic leukemia# 3yperkinetic syndrome ,ormer name %or attention-de%icit# 3yperornithinemia-hyperammonemia-homocitrullinuria syndrome An inherited disorder characterized by ele ated le els o% ornithine, postprandial hyperammonemia and homocitrullinuria, and a ersion to protein ingestion* belie ed to result %rom a de%ect in the transport o% ornithine into the mitochondria, "hich disturbs the cycle o% ureagenesis# 3yper entilation syndrome A comple( o% symptoms that accompany hypocapnia caused by hyper entilation, including palpitations, shortness o% breath, lightheadedness or giddiness, pro%use perspiration, tingling sensations in the %ingertips, %ace, or toes, and

asomotor collapse and loss o% consciousness i% prolonged# 3ypoplastic le%t heart syndrome 2ongenital hypoplasia or atresia o% the le%t entricle, aortic or mitral al e, and ascending aorta, "ith respiratory distress, cardiac %ailure, and death in in%ancy# 7mpingement syndrome :rogressi e pathologic changes resulting %rom the impingement o% the acromion, coracoacromial ligament, coracoid process, or acromiocla icular -oint on the rotator cu%%# 7rritable bo"el syndrome 7rritable colon syndrome a chronic nonin%lammatory disease "ith a psychophysiologic basis, characterized by abdominal pain, diarrhea or constipation or both, and no detectable pathologic change#

7saacs1 syndrome 7saacs-6ertens syndrome progressi e muscle sti%%ness and spasms, "ith continuous muscle %iber acti ity similar to that seen "ith neuromyotonia# Facod1s syndrome 2hronic arthritis a%ter rheumatic %e er, "ith %ibrous changes in the -oint capsules leading to de%ormities that may resemble rheumatoid arthritis but lack bone erosion# Farcho-9e in syndrome An inherited disorder o% multiple ertebral de%ects, short thora(, rib abnormalities, Acamptodactyly, syndactyly, and sometimes urogenital abnormalities, usually %atal in in%ancy# Fa"-"inking syndrome ("inking--a" syndrome) An congenital unilateral ptosis and ele ation o% the lid on opening o% the -a" or mo ing o% the mandible to the contralateral side# Foubert1s syndrome 7nherited, usually %atal, partial to complete agenesis o% the cerebellar ermis, "ith hypotonia, episodic hyperpnea, mental retardation, and abnormal eye mo ements# =artagener1s syndrome

A hereditary syndrome consisting o% de(trocardia, bronchiectasis, and sinusitis# =immelstiel-4ilson syndrome 7ntercapillary glomerulosclerosis in "hich the lesions are nodular# =ing syndrome A %orm o% malignant hyperthermia accompanied by characteristic physical abnormalities# =line%elter1s syndrome Smallness o% testes "ith %ibrosis and hyalinization o% semini%erous tubules, ariable degrees o% masculinization, azoospermia, and in%ertility, and increased urinary gonadotropins# 7t is associated typically "ith an XXK chromosome complement although ariants include XXKK, XXXK,X XXXK, and arious mosaic patterns# =lippel-,eil syndrome Shortness o% the neck due to reduction in the number o% cer ical ertebrae or the %usion o% multiple hemi ertebrae into one osseous mass, "ith limitation o% neck motion and lo" hairline# =orsako%%1s syndrome A syndrome o% anterograde and retrograde amnesia "ith con%abulation associated "ith alcoholic or nonalcoholic polyneuritis, currently used synonymously "ith the term amnestic syndrome or, more narro"ly, to re%er to the amnestic component o% the 4ernicke-=orsako%% syndrome# =ugelberg-4elander syndrome An inherited -u enile %orm o% muscular atrophy due to lesions on the anterior horns o% the spinal cord, beginning "ith the pro(imal muscles o% the lo"er limbs and pel ic girdle and progressing to the distal muscles# =line%elter1s syndrome(XXK syndrome, chromatin-positi e syndrome, medullary gonadal dysgenesis), :resence in men o% an abnormal se(-chromosome constitution# :ersons "ith XXK constitution sho" the clinical signs o% sterility, aspermatogenesis, ariable gynecomastia, and o%ten mental retardation# About BEL o% sub-ects "ithX XXXK ariant ha e cle%t palate# =lippel-,eil syndrome ,usions o% cer ical ertebrae, short neck "ith limited head mo ement, and

e(tension o% the posterior hairline# 9obstein1s syndrome See osteogenesis imper%ecta# 9A6< syndrome Syndrome o% %amilial myomas "ith cutaneous, cardiac, and endocrine in ol ement, mani%ested as l-entigines, a-trial m-y(oma, and b-lue ne i# 9andau-=le%%ner syndrome Aan epileptic syndrome o% childhood "ith partial or generalized seizures, psychomotor abnormalities, and aphasia progressing to mutism# 9aunois1 syndrome :ituitary gigantism# 9aurence-6oon syndrome An autosomal recessi e disorder characterized by mental retardation, pigmentary retinopathy, hypogonadism, and spastic paraplegia# 9azy leukocyte syndrome A syndrome in children, marked by recurrent lo"-grade in%ections "ith a de%ect in neutrophil chemota(is and de%icient random mobility o% neutrophils# 9emieu(-.eemeh syndrome An inherited syndrome o% 2harcot-6arie-0ooth disease "ith progressi e dea%ness# 9eriche syndrome 9o"er limb %atigue on e(ercising, lack o% %emoral pulse, impotence, and o%ten pale, cold lo"er limbs, usually seen in males due to obstruction o% the terminal aorta# 9esch-.yhan syndrome X-linked disorder o% purine metabolism "ith physical and mental retardation, compulsi e sel%- mutilation o% %ingers and lips by biting, choreoathetosis, spastic cerebral palsy, and impaired renal %unction, and by e(tremely e(cessi e purine synthesis and conse$uently hyperuricemia and e(cessi e urinary secretion o% uric acid# 9i-,raumeni syndrome

A %amilial syndrome o% early breast carcinoma associated "ith so%t tissue sarcomas and other tumors# 9ocked-in syndrome 'uadriplegia and mutism "ith intact consciousness and preser ation o% some eye mo ements* usually due to a ascular lesion o% the anterior pons# 9ong '0 syndrome :rolongation o% the '!0 inter al combined "ith torsades de pointes and mani%est in se eral %orms, either ac$uired or congenital, the latter "ith or "ithout dea%ness* it may lead to serious arrhythmia and sudden death# 9o"e syndrome ,( 9o"e-0errey-6ac9achlan syndrome ) ;culocerebrorenal s# 9o"n-5anong-9e ine syndrome A pree(citation syndrome o% electrocardiographic abnormality characterized by a short :!+ inter al "ith a normal '+S comple(, accompanied by atrial tachycardia# 9utembacher1s syndrome Atrial septal de%ect "ith mitral stenosis (usually rheumatic)# 9ymphadenopathy syndrome Gne(plained lymphadenopathy %or M or more months at e(trainguinal sites, re ealing on biopsy nonspeci%ic lymphoid hyperplasia, possibly a prodrome o% ac$uired immunode%iciency syndrome# 6a%%ucci1s syndrome /nchondromatosis "ith multiple cutaneous or isceral hemangiomas# 6alabsorption syndrome A group o% disorders marked by subnormal absorption o% dietary constituents, and thus e(cessi e loss o% nutrients in the stool, "hich may be due to a digesti e de%ect, a mucosal abnormality, or lymphatic obstruction# 6ale 0urner1s syndrome .oonan1s s# 6ar%an syndrome A hereditary syndrome o% abnormal length o% limbs, especially %ingers and toes, "ith sublu(ation o% the lens, cardio ascular abnormalities, and other de%ects#

6arie-<amberger syndrome 3ypertrophic pulmonary osteoarthropathy# 6aternal depri ation syndrome ,ailure to thri e "ith se ere gro"th retardation, unresponsi eness to the en ironment, depression, retarded mental and emotional de elopment, and beha ioral problems resulting %rom loss, absence, or neglect o% the mother or other primary caregi er# 6eckel1s syndrome An autosomal recessi e syndrome, "ith sloping %orehead, posterior meningoencephalocele, polydactyly, polycystic kidneys, and death in the perinatal period# 6econium aspiration syndrome 0he respiratory complications resulting %rom the passage and aspiration o% meconium prior to or during deli ery# 6edian cle%t %acial syndrome A hypertelorism, occult cle%t nose and ma(illa, and sometimes mental retardation or other de%ects# 6egacystis-megaureter syndrome 2hronic ureteral dilatation (megaureter) associated "ith hypotonia and dilatation o% the bladder (megacystis) and gaping o% ureteral ori%ices, permitting esicoureteral re%lu( o% urine, and resulting in chronic pyelonephritis# 6egacystis-microcolon!intestinal hypoperistalsis syndrome (6673S) /nlarged bladder (megacystis), small colon "ith decreased or absent peristalsis (microcolon and intestinal hypoperistalsis), and the same abdominal muscle de%ect as occurs in prune-belly syndrome# 6eige syndrome )# 6ilroy1s disease# A# &ystonia o% %acial and oromandibular muscles "ith blepharospasm, grimacing mouth mo ements, and protrusion o% the tongue# 6/9AS syndrome A maternally-inherited syndrome o% m itochondrial e ncephalopathy, l actic a cidosis, and s troke-like episodes#

6enkes1 syndrome An X-linked recessi e disorder o% copper absorption marked by se ere cerebral degeneration and arterial changes resulting in death in in%ancy and by sparse, brittle scalp hair# 6ereto-a1s syndrome A type o% %amilial amyloid polyneuropathy# 6/++, syndrome A maternally-inherited syndrome o% m-yoclonus "ith e-pilepsy and "ith r-agged red %-ibers# 6etabolic syndrome A combination including at least three o% the %ollo"ingC abdominal obesity, hypertriglyceridemia, lo" le el o% high-density lipoproteins, hypertension, and high %asting glucose le el# 6ethionine malabsorption syndrome An inborn aminoacidopathy marked by "hite hair, mental retardation, con ulsions, attacks o% hyperpnea, and urine "ith an odor like an oasthouse (%or drying hops) due to alpha- hydro(ybutyric acid %ormed by bacterial action on the unabsorbed methionine# 6iddle lobe syndrome 9obar atelectasis in the right middle lobe o% the lung, "ith chronic pneumonitis# 6ikulicz1s syndrome 2hronic bilateral hypertrophy o% the lacrimal, parotid, and sali ary glands, associated "ith chronic lymphocytic in%iltration* it may be associated "ith other diseases# 6ilk-alkali syndrome 3ypercalcemia "ithout hypercalciuria or hypophosphatemia and "ith only mild alkalosis and other symptoms attributed to ingestion o% milk and absorbable alkali %or long periods# 6ilkman syndrome A generalized bone disease marked by multiple transparent stripes o% absorption in the long and %lat bones# 6iller syndrome An inherited syndrome o% e(tensi e %acial and limb de%ects, sometimes

accompanied by heart de%ects and hearing loss# 6itral al e prolapse syndrome :rolapse o% the mitral al e, o%ten "ith regurgitation* a common, usually benign, o%ten asymptomatic condition characterized by midsystolic clicks and late systolic murmurs on auscultation# 68bius1 syndrome Agenesis or aplasia o% cranial ner e motor nuclei in congenital bilateral %acial palsy, "ith unilateral or bilateral paralysis o% abductors o% the eye and sometimes cranial ner e in ol ement and limb anomalies# 6ohr syndrome An autosomal recessi e disorder characterized by brachydactyly, clinodactyly, polydactyly, syndactyly, and bilateral hallucal polysyndactyly* by cranial, %acial, lingual, palatal, and mandibular anomalies* and by episodic neuromuscular disturbances# 6or$uio1s syndrome 0"o biochemically distinct but clinically nearly indistinguishable %orms o% mucopolysaccharidosis, marked by genu algum, pigeon breast, progressi e %lattening o% the ertebral bodies, short neck and trunk, progressi e dea%ness, mild corneal clouding, and e(cretion o% keratan sul%ate in the urine# 6ucocutaneous lymph node syndrome =a"asaki disease# 6ultiple endocrine de%iciency syndrome multiple glandular de%iciency syndrome %ailure o% any combination o% endocrine glands, o%ten accompanied by nonendocrine autoimmune abnormalities# 6ultiple pterygium syndrome An inherited syndrome characterized by pterygia o% the neck, a(illae, and popliteal, antecubital, and intercrural areas, accompanied by %acial, skeletal, and genital abnormalites# 6unchausen syndrome

A subtype o% %actitious disorder* habitual seeking o% hospital treatment %or apparent acute illness, the patient gi ing a plausible and dramatic history, all o% "hich is %alse# 6unchausen syndrome by pro(y see %actitious disorder by pro(y, under disorder# 6@: syndrome 6itral al e prolapse s# 6yelodysplastic syndrome Any o% a group o% related bone marro" disorders o% arying duration preceding the de elopment o% o ert acute myelogenous leukemia* characterized by abnormal hematopoietic stem cells, anemia, neutropenia, and thrombocytopenia# 6yeloproli%erati e syndromes See under disorder# 6ar%an syndrome 0all, thin stature, long, tapered %ingers and toes (arachnodactyly), dislocation o% the lens o% the eye (ectopia lentis), and aneurysm leading to rupture o% the aorta# 6c2une-Albright syndrome A polyostotic %orm o% %ibrous dysplasia, usually associated "ith precocious puberty in %emales, endocrine disturbances in%luencing gro"th, and bro"n pigmentation o% the skin#

6elkersson-+osenthal syndrome 0ransient %acial edema, especially s"elling o% the upper lip, %acial paralysis, and lingua plicata# :licated s"elling o% the mucosa o% the tongue, palate, and buccal mucosa may not be present, or the paralysis may be incomplete# 6ikulicz1s syndrome A condition characterized by s"elling o% the parotid, submandibular, sublingual, and lacrimal glands* associated "ith lymphosarcoma, leukemia, tuberculosis, sarcoidosis, and syphilis# 68bius1s syndrome 2ongenital %acial diplegia consisting o% %acial paralysis as "ell as lingual and masticatory muscle paralysis, inability to abduct the eyes, and anomalies o% the e(tremities#

6unchausen syndrome A condition in "hich a patient repeatedly reports to a physician or hospital %or treatment o% an illness, the symptoms and history o% "hich ha e been entirely %abricated# 6yeloproli%erati e syndrome /(tramedullary myelopoiesis in adults# 7t may %ollo" contact "ith benzol compounds or polycythemia, or it may precede leukemia# .onarticular pain syndrome ;ne o% se eral pain%ul disorders that limit -oint motion and a%%ect the periarticular structuresC the tendons, tendon sheaths, bursae, connecti e tissue, and muscles# :atients commonly call this syndrome Nmuscular aches and pains#O 0he pains are chronic and nagging and may occur in acute e(acerbations# 0he neck, shoulder, back, thighs, hands, and legs are common sites o% irritation# 0he nonarticular disorders are associated "ith %ibrositis, tendinitis, tenosyno itis, and periarticular muscle spasm# 0he precipitating agents are o%ten obscure and may be associated "ith postural or personality disorders# 4hen the acute symptoms o% pain, sti%%ness, and restricted motion are reduced, the tissues resume their normal %unction# .A6/ syndrome A syndrome o% %amilial my(omas "ith cutaneous, cardiac, and endocrine in ol ement, mani%ested as n e i, a trial m y(oma, and neuro%ibroma e phelides# .egri-Facod syndrome Facod1s s# .elson1s syndrome 0he de elopment o% an A203-producing pituitary tumor a%ter bilateral adrenalectomy in 2ushing1s syndrome* it is characterized by aggressi e gro"th o% the tumor and hyperpigmentation o% the skin# .ephrotic syndrome Any o% a group o% diseases in ol ing de%ecti e kidney glomeruli, "ith massi e proteinuria, lipiduria "ith edema, hypoalbuminemia, and hyperlipidemia# .er e compression syndrome /ntrapment neuropathy# .oack syndrome (:%ei%%er1s s#) .onstaphylococcal scalded skin syndrome

0o(ic epidermal necrolysis#

.oonan syndrome 4"ebbed neck, ptosis, hypogonadism, and short stature, i#e#, the phenotype o% 0urner1s syndrome "ithout the gonadal dysgenesis# ;besity-hypo entilation syndrome (pick"ickian syndrome) A syndrome o% obesity, somnolence, hypo entilation, and erythrocytosis# ;ccipital horn syndrome 0he X-linked recessi e %orm o% cutis la(a# ;culocerebrorenal syndrome An X-linked disorder marked by itamin &!re%ractory rickets, hydrophthalmia, congenital glaucoma and cataracts, mental retardation, and renal tubule dys%unction as e idenced by hypophosphatemia, acidosis, and aminoaciduria# ;culodentodigital syndrome ;&& syndrome oculodentodigital dysplasia# ;,& syndrome ;ral-%acial-digital s# ;menn1s syndrome 3istiocytic medullary reticulosis# ;pitz syndrome , (;pitz-,rias syndrome) A %amilial syndrome consisting o% hypertelorism and hernias, and in males also characterized by hypospadias, cryptorchidism, and bi%id scrotum# 2ardiac, laryngotracheal, pulmonary, anal, and renal abnormalities may also be present# ;ral-%acial-digital syndrome Any o% a group o% congenital syndromes characterized by oral, %acial, and digital anomalies# 0ype 7, a male-lethal X-linked dominant disorder, is characterized by camptodactyly, polydactyly, and syndactyly* by cranial, %acial, lingual, and dental anomalies* and by mental retardation, %amilial trembling, alopecia, and seborrhea o% the %ace and milia* type 77 is 6ohr s#* type 777, an autosomal recessi e disorder, characterized by posta(ial he(adactyly, by ocular, lingual, and dental anomalies, and by pro%ound mental retardation# ;rbital %loor syndrome

/(ophthalmos, diplopia, and anesthesia in the areas inner ated by the trigeminal ner e, occurring "ith a lesion in the %loor o% the orbit# ;rganic an(iety syndrome Aterm used in a %ormer system o% classi%ication, denoting an organic mental syndrome marked by prominent, recurrent panic attacks or generalized an(iety caused by a speci%ic organic %actor and not associated "ith delirium# ;rganic brain syndrome ;rganic mental s# ;rganic delusional syndrome A term used in a %ormer system o% classi%ication, denoting an organic mental syndrome marked by delusions caused by a speci%ic organic %actor and not associated "ith delirium# ;rganic mental syndrome ,ormer term %or a constellation o% psychological or beha ioral signs and symptoms associated "ith brain dys%unction o% unkno"n or unspeci%ied etiology and grouped according to symptoms rather than etiology# See also under disorder# ;rganic mood syndrome A term used in a %ormer system o% classi%ication, denoting an organic mental syndrome marked by manic or depressi e mood disturbance caused by a speci%ic organic %actor and not associated "ith delirium# ;rganic personality syndrome A term used in a %ormer system o% classi%ication, denoting an organic mental syndrome characterized by a marked change in beha ior or personality, caused by a speci%ic organic %actor and not associated "ith delirium or dementia# ;ro%aciodigital syndrome ;ral-%acial-digital s# ;rtner syndrome 9aryngeal paralysis associated "ith heart disease, due to compression o% the recurrent laryngeal ner e bet"een the aorta and a dilated pulmonary artery# ; arian hyperstimulation syndrome 6ild to se ere o arian enlargement "ith e(udation o% %luid and protein, leading to

ascites, pleural or pericardial e%%usion, azotemia, oliguria, and thromboembolism in "omen undergoing o ulation induction# ; arian ein syndrome ;bstruction o% the ureter due to compression by an enlarged or aricose o arian ein* typically the ein becomes enlarged during pregnancy# ; erlap syndrome Any o% a group o% connecti e tissue disorders that either combine scleroderma "ith polymyositis or systemic lupus erythematosus or combine systemic lupus erythematosus "ith rheumatoid arthritis or polymyositis# ; er"ear syndrome /(treme photophobia, pain, and lacrimation associated "ith contact lenses, particularly non!gas permeable hard lenses, usually caused by "earing them e(cessi ely# :acemaker syndrome @ertigo, syncope, and hypotension, o%ten accompanied by dyspnea, cough, nausea, peripheral edema, and palpitations, all e(acerbated or caused by pacemakers that stimulate the entricle and there%ore do not maintain normal atrio entricular synchrony# :acemaker t"iddler1s syndrome 0"iddler1s syndrome in a patient "ith an arti%icial cardiac pacemaker# :ain%ul bruising syndrome ;ccurrence o% one or more spontaneous, chronic recurring pain%ul ecchymoses "ithout antecedent trauma or a%ter insu%%icient trauma* sometimes precipitated by emotional stress# <ecause certain patients e(hibit autoerythrocyte sensitization in "hich intradermal in-ection o% their o"n erythrocytes produces a pain%ul ecchymosis, some consider the condition to be an autosensiti ity to a component o% the erythrocyte membrane* others consider it to be o% psychosomatic or %actitious origin# :ancoast1s syndrome )# .euritic pain and muscle atrophy in the upper limb, and 3orner1s syndrome, seen "ith a tumor near the ape( o% the lung "hen it in ol es the brachial ple(us# A;steolysis in the posterior part o% a rib or ribs, sometimes spreading to ad-acent ertebrae# paraneoplastic syndrome a symptom comple( arising in a cancer-bearing patient that cannot be e(plained by local or distant spread o% the tumor#

:arinaud1s syndrome :aralysis o% con-ugate up"ard mo ement o% the eyes "ithout paralysis o% con ergence* associated "ith tumors o% the midbrain# :arinaud1s oculoglandular syndrome A general term applied to con-uncti itis, usually unilateral and o% the %ollicular type, %ollo"ed by tenderness and enlargement o% the preauricular lymph nodes* o%ten due to leptotrichosis but may be associated "ith other in%ections# :arkinsonian syndrome A %orm o% parkinsonism due to idiopathic degeneration o% the corpus striatum or substantia nigra* %re$uently a se$uela o% lethargic encephalitis# :/: syndrome :;/6S s# :epper syndrome .euroblastoma "ith metastases to the li er# :ersistent mJllerian duct syndrome A hereditary syndrome in males o% persistence o% mJllerian structures in addition to male genital ducts# 0here may be cryptorchidism on -ust one side "ith a contralateral inguinal hernia that contains a testis, uterus, and uterine tube (hernia uteri inguinalis)# :eutz-Feghers syndrome ,amilial gastrointestinal polyposis, especially in the small bo"el, associated "ith mucocutaneous pigmentation# :%ei%%er syndrome (acrocephalosyndactyly, type @) An autosomal dominant disorder characterized by acrocephalosyndactyly associated "ith broad short thumbs and big toes# :ick"ickian syndrome ;besity-hypo entilation s# :ierre +obin syndrome 6icrognathia "ith cle%t palate, glossoptosis, and absent gag re%le(# plica syndrome pain, tenderness, s"elling, and crepitus o% the knee -oint, sometimes "ith "eakness or locking o% the -oint, caused by %ibrosis and calci%ication o% the

syno ial plicae# :lummer-@inson syndrome &ysphagia "ith glossitis, hypochromic anemia, splenomegaly, and atrophy in the mouth, pharyn(, and upper end o% the esophagus#

:;/6S syndrome :olyneuropathy, ;rganomegaly /ndocrinopathy, 6 component, and Skin changes, sometimes linked to a dysproteinemia such as the presence o% unusual monoclonal proteins and light chains# :olyangiitis o erlap syndrome A %orm o% systemic necrotizing asculitis resembling polyarteritis nodosa and allergic angiitis but also sho"ing %eatures o% hypersensiti ity asculitis# :olycystic o ary syndrome (:2;S) A clinical symptom comple( associated "ith polycystic o aries and characterized by oligomenorrhea or amenorrhea, ano ulation (hence in%ertility), and hirsutism* both hyperestrogenism and hyperandrogenism are present# :olysplenia syndrome A congenital syndrome o% multiple splenic masses, abnormal position and de elopment o% isceral organs, comple( cardio ascular de%ects, and abnormal, usually bilobate, lungs# :ost!cardiac in-ury syndrome ,e er, chest pain, pleuritis, and pericarditis "eeks a%ter in-ury to the heart, including that due to surgery (postpericardiotomy s#) and that due to myocardial in%arction (post)# :ostcardiotomy psychosis syndrome An(iety, con%usion, and perception disturbances occurring three or more days a%ter open heart surgery#

:ostcommissurotomy syndrome :ostpericardiotomy s# :ostconcussional syndrome :hysical and personality changes that may occur a%ter concussion o% the brain, including amnesia, headache, dizziness, tinnitus, irritability, %atigability, s"eating, heart palpitations, insomnia, and di%%iculty concentrating# :ostgastrectomy syndrome &umping s# :ost-lumbar puncture syndrome 3eadache in the erect posture, sometimes "ith nuchal pain, omiting, diaphoresis, and malaise, all relie ed by recumbency, occurring se eral hours a%ter lumbar puncture* it is due to lo"ering o% intracranial pressure by leakage o% cerebrospinal %luid through the needle tract# :ostmaturity syndrome A syndrome due to placental insu%%iciency that causes chronic stress and hypo(ia, seen in %etuses and neonates in postterm pregnancies, characterized by decreased subcutaneous %at, skin des$uamation, and long %ingernails, o%ten "ith yello" meconium staining o% the nails, skin, and erni(# :ost-myocardial in%arction syndrome :ost a%ter myocardial in%arction# :ostpericardiotomy syndrome :ost a%ter surgery "ith opening o% the pericardium# :otter1s syndrome ;ligohydramnios se$uence# :ree(citation syndrome Any syndrome "ith electrocardiographic signs o% pree(citation, such as 4ol%%:arkinson-4hite syndrome#Sometimes used synonymously "ith it# :remenstrual syndrome Some or all o% the symptoms o% depressed, an(ious, angry, or irritable mood, emotional lability, bloating, edema, headache, increased %atigue or lethargy, altered appetite or %ood cra ings, breast s"elling and tenderness, constipation, and decreased ability to concentrate occurring in the period bet"een o ulation and the onset o% menstruation# :rune-belly syndrome

A congenital syndrome o% de%icient or absent anterior abdominal "all musculature, urinary tract anomalies, and undescended testicles# 0he abdomen is protruding and thin-"alled, "ith "rinkled skin# :utnam-&ana syndrome Subacute combined degeneration o% the spinal cord# :apillon-9e%P re syndrome /(tensi e periodontal disease in young patients (-u enile periodontosis) accompanied by keratotic lesions o% the palmar and plantar sur%aces# 7n some patients, changes similar to hereditary ectodermal dysplasia also are present# :aratrigeminal syndrome 0rigeminal neuralgia, sensory loss, "eakness and atrophy o% the masticatory muscles, miosis, and ptosis o% the upper eyelid on the a%%ected side o% the %ace resulting %rom a lesion o% the semilunar ganglion and %ibers o% the carotid ple(us# :ierre +obin syndrome 6icrognathia o% the ne"born# 2ongenital retrognathism associated "ith cle%t palate, glossoptosis, di%%iculty in s"allo"ing, respiratory obstruction, and cyanosis# 0his congenital micrognathia corrects itsel% during the gro"th o% the child i% proper care is pro ided# :re-menstural syndrome(:6S) A condition that occurs "ithin )E days be%ore menstruation and ends soon a%ter menstruation begins# 0he most common physical and psychologic symptoms may include %atigue, heightened appetite, lack o% coordination, headache, bloating or cramping o% the abdomen, pain in the -oints or back, pressure or pain in the breasts, depression, apprehension, and inappropriately aggressi e beha iour +aeder syndrome +aeder paratrigeminal syndrome unilateral paro(ysmal neuralgic pain in the %ace associated "ith 3orner1s syndrome# +amsay 3unt syndrome )#5eniculate neuralgia* %acial paralysis "ith otalgia and a esicular eruption in the e(ternal canal o% the ear, sometimes e(tending to the auricle, due to herpes zoster irus in%ection o% the geniculate ganglion# A# Fu enile paralysis agitans (o% 3unt)# M# dyssynergia cerebellaris progressi a#

+eiter syndrome 0he triad o% nongonococcal urethritis, con-uncti itis, and arthritis, %re$uently "ith mucocutaneous lesions# +espiratory distress syndrome (o% the ne"born) A condition seen in in%ants born prematurely, by cesarean section, or to diabetic mothers, marked by dyspnea and cyanosis* a common, usually %atal subtype is hyaline membrane disease# +eye1s syndrome A rare o%ten %atal encephalopathy o% childhood, marked by acute brain s"elling "ith hypoglycemia, %atty in%iltration o% the li er, hepatomegaly, and disturbed consciousness and seizures, usually seen as a se$uel o% aricella or an upper air"ay iral in%ection# +h-null syndrome 2hronic hemolytic anemia a%%ecting indi iduals "ho lack all +h %actors (+hnull)* it is marked by spherocytosis, stomatocytosis, and increased osmotic %ragility# +iley-&ay syndrome ,amilial dysautonomia# +osenberg-<ergstrom syndrome An inherited syndrome o% hyperuricemia, renal insu%%iciency, ata(ia, and dea%ness# +uka ina1s syndrome A type o% %amilial amyloid polyneuropathy# +undles-,alls syndrome 3ereditary sideroblastic anemia# +u alcaba1s syndrome Abnormal shortness o% the metacarpal or metatarsal bones, hypoplastic genitalia, and mental and physical retardation o% unko"n etiology, present %rom birth in males# +adial tunnel syndrome A pain%ul condition caused by the compression o% the radial ner e that passes in arious branches %rom the spine through the %orearm, "rist, and hand

+eiter1s syndrome A syndrome that consists o% arthritis (o%ten o% the rheumatoid type), con-uncti itis, nonspeci%ic urethritis, and occasionally aphthous ulcers o% the oral mucosa# +ieger1s syndrome A syndrome the characteristics o% "hich include hypodontia, conical cro"ns, enamel hypoplasia, dysgenesis o% the iris and cornea, and myotonic dystrophy# +iley-&ay syndrome (%amilial dysautonomia) &isturbances o% the autonomic and central ner ous systems consisting o% hypersali ation, de%ecti e lacrimation, e(cessi e s"eating, erythematous blotching a%ter emotional upset, relati e indi%%erence to pain, and hypore%le(ia# .ormal gro"th and motor de elopment are retarded# +obin syndrome See syndrome, :ierre +obin# +oger1s syndrome 2ontinuous e(cessi e secretion o% sali a as the result o% cancer o% the esophagus or other # +ubella syndrome /namel de%ects o% the primary teeth attributed to prolonged e%%ect o% the rubella irus on ameloblasts during %etal li%e and in the postnatal period# Saethre-2hotzen syndrome 2hotzen1s s# Salt-depletion syndrome /Salt-losing syndrome @omiting, dehydration, hypotension, and sudden death due to ery large sodium losses %rom the body# 7t may be seen in abnormal losses o% sodium into the urine (as in congenital adrenal hyperplasia, adrenocortical insu%%iciency, or one o% the %orms o% salt-losing nephritis) or in large e(trarenal sodium losses, usually %rom the gastrointestinal tract# S7A&3 (syndrome o% inappropriate antidiuretic hormone) :ersistent hyponatremia, inappropriately ele ated urine osmolality, caused by release o% asopressin (antidiuretic hormone) "ithout discernible stimulus# San%ilippo1s syndrome ,our biochemically distinct but clinically indistinguishable %orms o%

mucopolysaccharidosis, characterized by urinary e(cretion o% heparan sul%ate, rapid mental deterioration, and mild 3urler-like symptoms, "ith death usually occurring be%ore AE years o% age# Scalenus syndrome , (scalenus anticus) Syndrome a type o% thoracic outlet syndrome due to compression o% the ner es and essels bet"een a cer ical rib and the scalenus anticus muscle, "ith pain o er the shoulder, o%ten e(tending do"n the arm or radiating up the back# Schaumann1s syndrome Sarcoidosis# Scheie1s syndrome A mild allelic ariant o% 3urler1s syndrome, marked by corneal clouding, cla"hand, aortic al e in ol ement, "ide-mouthed %acies, genu algus, and pes ca us* stature, intelligence, and li%e span are normal# Second impact syndrome Acute, usually %atal, brain s"elling and increased cranial pressure, caused by repeated head trauma in a short space o% time, so that a second concussion occurs be%ore reco ery %rom a pre ious concussion is complete# Sertoli-cell!only syndrome 2ongenital absence o% the germinal epithelium o% the testes, the semini%erous tubules containing only Sertoli cells, marked by testes slightly smaller than normal, azoospermia, and ele ated titers o% %ollicle-stimulating hormone and sometimes o% luteinizing hormone# Se ere acute respiratory syndrome (SA+S) An in%ectious respiratory illness characterized by %e er, dry cough, and breathing di%%iculties, o%ten accompanied by headache and body aches* belie ed to be caused by a corona irus# S?zary syndrome A %orm o% cutaneous 0-cell lymphoma mani%ested by e(%oliati e erythroderma, intense pruritus, peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear cells in the skin, lymph nodes, and peripheral blood# Sheehan1s syndrome :ostpartum pituitary necrosis# Short-bo"el syndrome Short-gut syndrome any o% the malabsorption conditions resulting %rom massi e resection o% the small bo"el, the degree and kind o% malabsorption depending on the site and e(tent o% the resection* it is characterized by diarrhea, steatorrhea, and malnutrition#

Shoulder-hand syndrome +e%le( sympathetic dystrophy limited to the upper limb# Shprintzen1s syndrome @elocardio%acial s# Sh"achman syndrome (Sh"achman-&iamond syndrome) :rimary pancreatic insu%%iciency and bone marro" %ailure, characterized by normal s"eat chloride alues, pancreatic insu%%iciency, and neutropenia* it may be associated "ith d"ar%ism and metaphyseal dysostosis o% the hips# Sick sinus syndrome 7ntermittent bradycardia, sometimes "ith episodes o% atrial tachyarrhythmias or periods o% sinus arrest, due to mal%unction originating in the supra entricular portion o% the cardiac conducting system# Sil er-+ussell syndrome A syndrome o% lo" birth "eight despite normal gestation duration, and short stature, lateral asymmetry, and some increase in gonadotropin secretion# Sipple1s syndrome 6ultiple endocrine neoplasia, type 77# S-8gren1s syndrome A symptom comple( usually in middle-aged or older "omen, marked by keratocon-uncti itis sicca, (erostomia, and enlargement o% the parotid glands* it is o%ten associated "ith rheumatoid arthritis and sometimes "ith systemic lupus erythematosus, scleroderma, or polymyositis# Sleep apnea syndrome Sleep apnea# Smith-9emli-;pitz syndrome An autosomal recessi e syndrome o% microcephaly, mental retardation, hypotonia, incomplete de elopment o% male genitalia, short nose "ith ante erted nostrils, and syndactyly o% second and third toes# Social breakdo"n syndrome o% social and interpersonal skills, "ork habits, and beha ior seen in chronically hospitalized psychiatric patients* due to the e%%ects o% long-term institutionalization rather than the primary illness# Stagnant loop syndrome Stasis s#

Staphylococcal scalded skin syndrome An in%ectious disease, usually a%%ecting in%ants and young children, %ollo"ing in%ection "ith certain strains o% Staphylococcus aureus, characterized by localized to "idespread bullous eruption and e(%oliation o% the skin lea ing ra", denuded areas that make the skin look scalded# Stasis syndrome ; ergro"th o% bacteria in the small intestine secondary to arious disorders causing stasis* it is characterized by malabsorption o% itamin <)A, steatorrhea, and anemia# Steele-+ichardson-;lsze"ski syndrome A progressi e neurological disorder "ith onset during the si(th decade, characterized by supranuclear ophthalmoplegia, especially paralysis o% the do"n"ard gaze, pseudobulbar palsy, dysarthria, dystonic rigidity o% the neck and trunk, and dementia# Stein-9e enthal syndrome :olycystic o ary s# Ste ens-Fohnson syndrome A sometimes %atal %orm o% erythema multi%orme presenting "ith a %lulike prodrome and characterized by se ere mucocutaneous lesions* pulmonary, gastrointestinal, cardiac, and renal in ol ement may occur# Ste"art-0re es syndrome 9ymphangiosarcoma occurring as a late complication o% se ere lymphedema o% the arm a%ter e(cision o% the lymph nodes, usually in radical mastectomy# Sti%%-man syndrome A condition o% unkno"n etiology marked by progressi e %luctuating rigidity o% a(ial and limb muscles in the absence o% signs o% cerebral and spinal cord disease but "ith continuous electromyographic acti ity# Stroke syndrome Stroke* a condition "ith sudden onset due to acute ascular lesions o% the brain (hemorrhage, embolism, thrombosis, rupturing aneurysm), "hich may be marked by hemiplegia or hemiparesis, ertigo, numbness, aphasia, and dysarthria, and o%ten %ollo"ed by permanent neurologic damage# Sturge1s syndrome (Sturge-=alischer-4eber syndrome) Sturge-4eber syndrome a congenital syndrome consisting o% a port-"ine stain type o% ne us %lammeus distributed o er the trigeminal ner e accompanied by a similar ascular disorder o% the underlying meninges and cerebral corte(#

Subcla ian steal syndrome 2erebral or brain stem ischemia due to ertebrobasilar insu%%iciency in cases o% subcla ian steal# Sudden in%ant death syndrome Sudden and une(pected death o% an in%ant "ho had pre iously been apparently "ell, and "hich is une(plained by care%ul postmortem e(amination# S"yer-Fames syndrome Ac$uired unilateral hyperlucent lung, "ith se ere air"ay obstruction during e(halation, oligemia, and a small hilum# Short %ace syndrome An abnormally short lo"er %acial height relati e to other %ace portions caused by increased le els o% mandibular %or"ard rotation during embryologic de elopment# Sicca syndrome See syndrome, S-8gren1s# S-8gren1s syndrome (sicca syndrome, (erodermostecisis) n#pr condition related to de%icient secretion o% sali ary, s"eat, lacrimal, and mucous glands ((erostomia, keratocon-uncti itis, rhinitis, dysphagia), increased size o% sali ary glands, and polyarthritis# Smyth1s syndrome See hyperostosis, in%antile cortical# Ste ens-Fohnson syndrome An acute in%lammatory disease characterized by oral, ocular, and genital lesions "ith se ere generalized symptoms# 0he oral lesions are irregularly shaped, pain%ul ulcers# See also erythema multi%orme# S"i%t1s syndrome See acrodynia# Syndrome in lzberger (incontinentia pigmenti) 7n "hich pigmented skin lesions, de%ects o% the eyes and central ner ous system, skeletal anomalies, and hypoplasia o% the teeth occur# 0arsal tunnel syndrome A comple( o% symptoms resulting %rom compression o% the posterior tibial ner e

or o% the plantar ner es in the tarsal tunnel, "ith pain, numbness, and tingling paresthesia o% the sole o% the %oot# 0aussig-<ing syndrome 0ransposition o% the great essels o% the heart and a entricular septal de%ect straddled by a large pulmonary artery# 0esticular %eminization syndrome 2omplete androgen resistance# 0horacic outlet syndrome Any o% se eral neuro ascular syndromes due to compression o% the brachial ple(us ner e trunks, "ith pain, paresthesias, asomotor symptoms, and "eakness and small muscle "asting in upper limbs* causes include drooping shoulder girdle, a cer ical rib or %ibrous band, an abnormal %irst rib, limb hyperabduction (as during sleep), or compression o% the edge o% the scalenus anterior muscle# 0olosa-3unt syndrome Gnilateral ophthalmoplegia associated "ith pain behind the orbit and in the area supplied by the %irst di ision o% the trigeminal ner e* it is thought to be due to nonspeci%ic in%lammation and granulation tissue in the superior orbital %issure or ca ernous sinus# 0;+23 syndrome (0o(oplasmosis, ;ther agents, +ubella, 2ytomegalo irus, 3erpes simple() any o% a group o% in%ections seen in neonates as a result o% the in%ectious agent ha ing crossed the placental barrier# 0ourette1s syndrome 5illes de la 0ourette1s s# 0o"nes1 syndrome An inherited disorder o% auricular anomalies, anal de%ects, limb and digit anomalies, and renal de%iciencies, occasionally including cardiac disease, dea%ness, or cystic o ary# 0o(ic shock syndrome A se ere illness "ith sudden high %e er, omiting, diarrhea, and myalgia, %ollo"ed by hypotension and, in se ere cases, shock* a sunburn-like rash "ith skin peeling, especially on palms and soles, occurs during the acute phase# 7t primarily a%%ects menstruating "omen using tampons, although a %e" "omen not using tampons and a %e" males ha e been a%%ected# 7t is thought to be caused by in%ection "ith Staphylococcus aureus#

0reacher 2ollins syndrome 0he incomplete %orm o% mandibulo%acial dysostosis#

0risomy Q syndrome A syndrome due to an e(tra chromosome Q, usually mosaic (trisomy Q/normal), "ith mild to se ere mental retardation, prominent %orehead, deep-set eyes, thick lips, prominent ears, and camptodactyly# 0risomy ))$ syndrome A ariable syndrome due to an e(tra long arm o% chromosome )), possibly including preauricular %istulas, hypoplasia o% the gallbladder, micropenis, bicornuate uterus, microphthalmos, mal%ormations o% the heart, lungs, and brain, seizures, and recurrent in%ection# 0risomy )M syndrome 3oloprosencephaly due to an e(tra chromosome )M, in "hich central ner ous system de%ects are associated "ith mental retardation, along "ith cle%t lip and palate, polydactyly, and dermal pattern anomalies, and abnormalities o% the heart, iscera, and genitalia# 0risomy )Q syndrome .eonatal hepatitis, mental retardation, scaphocephaly or other skull abnormality, micrognathia, blepharoptosis, lo"-set ears, corneal opacities, dea%ness, "ebbed neck, short digits, entricular septal de%ects, 6eckel1s di erticulum, and other de%ormities# 7t is due to an e(tra chromosome )Q# 0risomy A) syndrome &o"n s# 0rousseau1s syndrome Spontaneous enous thrombosis o% upper and lo"er limbs associated "ith isceral carcinoma# 0umor lysis syndrome Se ere hyperphosphatemia, hyperkalemia, hyperuricemia, and hypocalcemia a%ter e%%ecti e induction chemotherapy o% rapidly gro"ing malignant neoplasms# 0urcot1s syndrome ,amilial polyposis o% the colon associated "ith gliomas o% the central ner ous sytem# 0urner1s syndrome 5onadal dysgenesis "ith short stature, undi%%erentiated (streak) gonads, and

ariable abnormalities such as "ebbing o% neck, lo" posterior hair line, increased carrying angle o% elbo", cubitus algus, and cardiac de%ects# 0he genotype is X; (RB, X) or X/XX or X/XXX mosaic# 0he phenotype is %emale# 0"iddler1s syndrome &islodgement, breakdo"n, or other mal%unction o% an implanted diagnostic de ice as a result o% unconscious or habitual manipulation by the patient# 0"in trans%usion syndrome 0"in!t"in trans%usion syndrome one caused by t"in-to-t"in trans%usion ($# #)* the donor t"in is small, pale, and anemic, "hile the recipient is large and polycythemic, "ith an o erloaded cardio ascular system# 2haracterized by arterio enous shunt at a shared placental cotyledon in diamniotic monochorionic t"ins# 0riple XXX syndrome see (((# 0urner1s syndrome 7n humans* characterized by a small uterus and underde eloped e(ternal genitalia* dea%ness and lo"ered mentality may be present#

0emporomandibular -oint syndrome An acute muscle spasm in the muscles associated "ith the protection and mo ement o% the -oint# 7t is belie ed to be caused by a postural (occlusal) imbalance associated "ith the muscular tension induced by psychologic stress# 0he principal symptoms are pain in the region o% the -oint, limitation o% mobility o% the mandible, crepitus, clicking sounds in the -oint, and o%ten tinnitus# 0halassemia syndrome(2ooley1s anemia, 6editerranean anemia, hereditary leptocytosis) A group o% closely related and genetically determined disorders in "hich a speci%ic decrease in one o% the polypeptide chains constituting hemoglobin occurs# 0he de%ect results in hypochromic microcytic erythrocytes# Alpha, beta, and delta ariants occur, as "ell as se eral subtypes based on biochemical techni$ues# See also thalassemia# 0reacher 2ollins syndrome See dysostosis, mandibulo%acial#

0urner1s syndrome (X; syndrome, gonadal dysgenesis, genital d"ar%ism) A syndrome characterized by the absence o% one o% the X chromosomes, "ith a%%ected %emales being sterile and short o% stature and ha ing arious congenital anomalies, such as "ebbing o% the neck, lo"-set ears, "ide-set eyes, shieldlike chest, absence o% breasts, and cubitus algus# 2ommon oro%acial %indings are hypoplastic mandible, high palatal ault, and dental anomalies# Grethral syndrome Symptoms associated "ith a urethral problem other than in%ection, including suprapubic aching and cramping, urinary %re$uency, and bladder complaints such as dysuria, tenesmus, and lo" back pain# Gsher1s syndrome An inherited syndrome o% congenital dea%ness "ith retinitis pigmentosa, o%ten ending in blindness* mental retardation and gait disturbances may also occur# Gllrich-,eichtiger syndrome A syndrome that has micrognathia, polydactyly, and genital mal%ormations# Grbach-4iethe syndrome A syndrome characterized by hyalinosis o% the skin and mucous membranes and hoarseness# 0he skin is in%iltrated "ith yello"ish, "a(y nodules, and the oral tissues "ith similar pla$ues beginning be%ore puberty and becoming increasingly se ere# 0he teeth may be hypoplastic or may %ail to de elop# @elocardio%acial syndrome An inherited syndrome o% cardiac de%ects and cranio%acial anomalies, o%ten "ith abnormalities o% chromosome AA* learning disabilities o%ten occur, and less o%ten other abnormalities# @ernet1s syndrome :aralysis o% the glossopharyngeal, agus, and spinal accessory ner es due to a lesion in the region o% the -ugular %oramen# @ogt-=oyanagi-3arada syndrome <ilateral u eitis "ith iridocyclitis, e(udati e choroiditis, meningism, and retinal detachment, accompanied by alopecia, itiligo, poliosis, loss o% isual acuity, headache, omiting, and dea%ness* possibly an in%lammatory autoimmune disorder#

@estibular disorder syndrome ;ne o% se eral syndromes in ol ing the estibule o% the ear# 0he t"o most common syndromes o% estibular disorders are seasickness, "hich results %rom the continuous mo ement o% the endolymph in susceptible indi iduals (probably related to a disturbance in the re%le( control o% the eyeball mo ements), and 6eniere1s syndrome, o% "hich paro(ysmal ertigo is the principal sign but other associated ascular and metabolic disorders can occur# 4aardenburg-=lein syndrome A syndrome consisting o% congenital dea%ness, "hite %orelock, increased distance bet"een the inner canthi, the iris o% the same eye or o% the t"o eyes ha ing di%%erent color (heterochromic irides), and prognathism# 7nherited as an autosomal dominant disorder# 4eber-2ockayne syndrome A simple nonscarring %orm o% epidermolysis bullosa* transmitted as an autosomal dominant trait# See also syndrome, 5oldscheider1s# 4eech1s syndrome See hypohidrotic ectodermal dysplasia# 4itkop- on Sallman syndrome A hereditary benign intraepithelial dyskeratosis "ith gelatinous pla$ues on hyperemic bulbar con-uncti a and "hite %olds and pla$ues in ol ing the oral mucosa# 4aardenburg1s syndrome A hereditary, autosomal dominant disorder characterized by "ide bridge o% the nose due to lateral displacement o% the inner canthi and puncta, pigmentary disturbances, including "hite %orelock, heterochromia iridis, "hite eyelashes, leukoderma, and sometimes cochlear hearing loss# 4A5+ syndrome A syndrome o% 4ilms1 tumor, aniridia, genitourinary abnormalities or gonadoblastoma, and mental retardation, due to a deletion in chromosome ))# 4alker-4arburg syndrome 4arburg1s syndrome a usually %atal congenital syndrome o% hydrocephalus, agyria, arious ocular anomalies, and sometimes encephalocele#

4aterhouse-,riderichsen syndrome 0he malignant or %ulminating %orm o% epidemic cerebrospinal meningitis, "ith sudden onset, short course, %e er, collapse, coma, cyanosis, petechiae on the skin and mucous membranes, and bilateral adrenal hemorrhage# 4eber1s syndrome :aralysis o% the oculomotor ner e on the same side as the lesion, causing ptosis, strabismus, and loss o% light re%le( and accommodation* also spastic hemiplegia on the side opposite the lesion "ith increased re%le(es and loss o% super%icial re%le(es# 4eil1s syndrome A se ere %orm o% leptospirosis, marked by -aundice usually accompanied by azotemia, hemorrhage, anemia, disturbances o% consciousness, and continued %e er# 4erner1s syndrome :remature aging o% an adult, "ith early graying and some hair loss, cataracts, hyperkeratinization, muscular atrophy, scleroderma-like changes in the skin o% the limbs, and a high incidence o% neoplasm# 4ernicke-=orsako%% syndrome A neuropsychiatric disorder caused by thiamine de%iciency, most o%ten due to alcohol abuse, combining the %eatures o% 4ernicke1s encephalopathy and =orsako%%1s syndrome# 4hiplash shake syndrome Subdural hematomas, retinal hemorrhage, and sometimes cerebral contusions caused by the stretching and tearing o% cerebral essels and brain substance, sometimes seen "hen a ery young child is shaken igorously by the limbs or trunk "ith the head unsupported* paralysis, isual disturbances, blindness, con ulsions, and death may result# 4ilson-6ikity syndrome A rare %orm o% pulmonary insu%%iciency in lo"-birth-"eight in%ants, "ith hyperpnea and cyanosis during the %irst month o% li%e, sometimes ending in death* there are also radiologic abnormalities# 4iskott-Aldrich syndrome 2hronic eczema "ith chronic suppurati e otitis media, anemia, and thrombocytopenic purpura, an immunode%iciency syndrome transmitted as an X-linked recessi e trait, "ith poor antibody response to polysaccharide antigens and dys%unction o% cell-mediated immunity#

"ithdra"al syndrome substance "ithdra"al# 4ol%-3irschhorn syndrome A syndrome due to partial deletion o% the short arm o% chromosome R, "ith microcephaly, ocular hypertelorism, epicanthus, cle%t palate, micrognathia, lo"-set ears simpli%ied in %orm, cryptorchidism, and hypospadias# 4ol%%-:arkinson-4hite (4:4) syndrome 0he association o% paro(ysmal tachycardia (or atrial %ibrillation) and pree(citation, in "hich the electrocardiogram displays a short :!+ inter al and a "ide '+S comple( "hich characteristically sho"s an early '+S ector (delta "a e)# 4yburn-6ason1s syndrome Arterio enous aneurysms on one or both sides o% the brain, "ith ocular anomalies, %acial ne i, and sometimes mental retardation# X--syndrome Angina pectoris or angina-like chest pain associated "ith normal arteriographic appearance o% the coronary arteries# Dollinger-/llison syndrome 0he association o% atypical, intractable, sometimes %ulminating, peptic ulcers "ith e(treme gastric hyperacidity and benign or malignant gastrinomas in the pancreas# Dinsser-/ngman-2ole syndrome A syndrome consisting o% reticular atrophy o% the skin, "ith pigmentation, dystrophic %ingernails and toenails, and oral leukoplakia# 3yperhidrosis o% the palms and soles is present, as "ell as acrocyanosis o% the hands and %eet#