Syndromes

of the head
& neck

Produced by:
Dr. Mohamed Fawzy
Albright syndrome:
- Polyostotic fibrous dysplasia
(multiple bones affected)
- Patchy skin pigmentation (caf au lait)
- Endocrine abnormality
- Facial asymmetry in 25% of cases

Apert syndrome:
- Is rare develpmental deformity
- Craniosynostosis (premature fusion of sutures)
- Syndactyly (fusion of fingers or toes)
- Severe Mid-face retrusion
lead to exophthalmus

Behcet syndrome:
- Oral, genital ulcers & uvietis
- young males
- associated with HLA-B5
- treated with thalidomide

Binder syndrome:
- Maxillo-nasal dysplasia
- Severe Mid-face retrusion
- Absent or hypoplastic frontal sinuses

Caplan Syndrome: (in lungs of a Rheumatoid Arthritis patient)

- Nodular Pulmonary fibrosis in a patient with R.A. who is exposed to
various industrial ducts

Carpal tunnel Syndrome:

- In Reumatoid arthritis & also with Acromegaly due to compression of
medial n.)
- Atlastoaxial subluxation (due to weakening of the transverse ligament of
Atlas) may lead to neurological abnormalities
- Polyneuropathy
Chediack-Hegashi syndrome: (Genetic disease)
- defective neutrophil function so, increase susceptibility to infection
(leading to severe gingivitis, periodontitis & aphthae in young children)
- abnormal skin pigmentation

Cleidocranial dysostosis:( Autosomal dominant )

- hypoplasia or aplasia of clavicles
- short stature, large short skull
- delayed ossification of cranial fontanelles
- frontal bossing, mid-face hypoplasia
- high arched palate or clefting
- delayed eruption of teeth
with multiple supernumerary teeth

Cri du chat syndrome:

- Chromosomal abnormality
(caused by deletion of short arm of chromosome no.5)
- microcephaly
- hypertolorism
- round face, broad nasal bridge, malformed ears
- severe mental retardation
- laryngeal hypoplasia : characteristic shrill cry

Crouzon syndrome:
- the commonest of craniosynostoses
- autosomal dominant
- premature closure of cranial sutures
- increase intracranial pressure : cerebral damage
- midface hypoplasia, shallow orbit, proptosis of eyes
- Radiographically: characteristic beater copper skull

Digeorge Syndrome Thymic hypoplasia : (1ry immune deficiency)

- Failure of development of 3rd & 4th branchial pouches thymus
- T-cell defiency
- Tetany, congenital defects of heart and great vessels
- Recurrent fungal infections (oral candidiosis)
- Recurrent Viral infections (herpes)
- Eitiology: Intrauterine damage at 8 w.i.u.
- need Thymus transplant
Down syndrome: ( trisomy 21 )
- the commonest of all malformation syndrome
- 1 : 6000 of birth, increase with increase of maternal age
- severe mentally handicapped child
- midface retrusion,facial clefts
- upward sloping palpebral fissures (mongoloid slant)
- small nose with flattened nasal bridge
- shortened palate,cleft lip or palate
- macroglossia, tongue clefts
- delayed eruption of teeth
- heart defects, atlantoaxial sublaxation
- extremely friendly and cooperative

Eagle syndrome:
- dysphagia & pain in chewing and turning the head
- elongated styloid process

Ehlers-Danlos syndrome:
- abnormality of collagen
- increased bleeding & bruising
(bleeding is common in type IV)
- hyperflexibility of joints,
recurrent TMJ dislocation
- hyperelasticity of skin
- small teeth with short roots - common pulp stones
- early onset periodontal dis. in type VII

Felty's syndrome: (in Rheumatoid Arthritis)

- palpable lymph nodes
- enlarged spleen
- neutropenia

Frey syndrome:
- follows trauma to skin overlying salivary gland
- due to crossover symp.& parasymp.
innervation of skin & gland
- may follow parotidectomy
- gustatory sweating & flushing of skin
Gardener syndrome: (autosomal dominant)
- multiple osteomas of jaws & facial bones
- multiple polyps of large intestine (polyposis coli)
which have a tendency to rapid malignant change
- multiple epidermoid cysts
- multiple impacted perm. & supernumerary teeth

Goldenhar syndrome: (variant of hemifacial

- microtia (small ears) Microsomia)
- macrostomia
- agenesis of mandibular ramus & condyle
- 10% may be handicapped

Gorlin-Goltz syndrome: (multiple basal cell naevi/jaw cysts syndrome)

- multiple basal cell carcinoma naevi in skin (epitheliomas)
- multiple odontogenic keratocysts of jaw
- mandibular prognasthism
- cleft lip, palate in 5%
- vertebral-rib anomalies
- due to mutation of PTCH patched tumor suppressor gene

Graves' disease: (Autoimmune disease)

- Abnormal presence of thyroid-stimulating
Immunoglobulin which stimulate both secretion &
Growth of thyroid gland
- hyperthyroidism
- ophthalmopathy (bulging eyes)
- 2-5% of Women 30-50y commonly affected

Heerfordt syndrome: (uveoparotid fever)

- is sarcoidosis with lacrimal, salivary swelling esp. parotid
- uvitis - bilateral
- fever
- neuropathies (e.g. facial palsy)

Hemifacial microsomia :
- 1 :5000 birth congenital
- lack of hard & soft tissues in the affected side
- usually at ramus & external ear (1st &2ed branchial arches)
Histocytosis-X :
- Histological features of infiltration by macrophages & eosinophils
- 3 broad groups of diseases :
* Solitary eosinophilic granuloma mandible in males <20y
* Hand-Schuller-Christian disease multifocal eosinophilic granuloma
causing skull lesions & affect younger groups
* Letterer-Siwe disease <rapidly progressive, pancytopenia, can be fatal>

Horner Syndrome :
- Consticted pupil miosis
- Drooping eyelid ptosis
- Unilateral loss of sweating anhydrosis on the face
- Caused by interruption of symp.nerve fiber at the
cevical ganglion

Hurler Syndrome :
- Mucopolysaccharides causing growth failure,
mental retardation
- Large head, frontal bossing
- Multiple skeletal abnormalities
- Serum & urinary acid mucopolysaccharides abnormalities

Hypohydrotic ectodermal dysplasia :

- Hypodontia
- Lack of hair (hypotrichosis)or sparse hair
- Decreased Sweating (hypohydrosis)

Klippel-Feil anomalad :
- Cervical vertebral fusion
- Short neck
- Low-lying posterior hairline
- Some neurological anomalies

Larsen syndrome : (Autosomal dominant condition)

- Prediliction to females
- Cleft palate
- Flatenned facies
- Deformities of feet
 - Short stature

Lesch-Nyhan syndrome :
Defect in purine metabolisim, causing :
- Mental retardation
- Cerebral palsy
- Self mutilating behaviour (particularly lips)

MAGIC Syndrome :
- stands for Mouth And Genital ulcers & Interstitial chondritis
- A varient of Behcets syndrome

Marfan Syndrome :
- Autosomal dominant condition
- Tall-thin stature
- Arachnodactyly long-thin hands
- Aortic regurgitation & floppy mitral valve
- Dislocation of the lens
- High arched palate
- Prelevant among basketball & volleyball players

Melkerson-Rosenthal Syndrome : (orofacial granulomatosis)

- Facial paralysis
- Facial oedema
- Fissured tongue

Multiple endocrine neoplasia : MEN

- Group of conditions affecting endocrine glands
- Index of suspicion shold be : high in tall, thin, wasted-looking children &
young adults with lumps in the mouth

Orofacial-digital Syndrome :
- One of many CLP syndromes
- Hypodontia especially laterals
- Supernumerary teeth
- Digital finger abnormalities

Papillon-Lefevre Syndrome :
- Palmoplunter Hyperkeratosis
- Juvenile periodontitis (prim.&perm. teeth)
- Hyperkeratosis of palms and soles
 - Aggressive gingivitis, periodontitis after teeth eruption only

Patterson-Brown-Kelly Syndrome
Plummer-Vinson Syndrome :
( a form of iron defiecency aneamia)
- Dysphagia (due to atrophy of mucous membrane
of mouth,pharnx, oesophygus)
- Koilonychia spoon nails
- Hyperkeratosis of palms & soles
- Angular chelitis

Peutz-Jeghers Syndrome :
- Autosomal dominant
- Melantic pigmentation of
skin peri-oral & mucosa
- Intestinal polyps (small intestine)
have no tendancy to malignant change
(unlike Gardener syndrome)
- 10% of women are affected

Progeria :
- Collagen abnormality
- Causing Dwarfisim
- Premature aging, death occurs in mid-teens
- Disproportion between small face & beak-like nose

Ramsay Hunt Syndrome :

- Lower motor neuron facial palsy
- Vesicles in the same side in face & pharynx
- Thought to be due to heres Zoster

Reiter Syndrome :
- Arthritis
- Urithritis
- Conjunctivitis
- Oral lesions which resemble benign migratory glossitis in appearence
but affect other parts in the mouth
Robin Sequence Pierre Robin :
- structures derived from 1st arch
- Micrognathia (Mandibular hypoplasia)
- Cleft palate
- Eye & ear defects

Romberg Syndrome Hemifacial atrophy :

- Atrophy of soft tissues of half of the face
- associated with contralateral Jacksonian epilepsy & trigeminal neuralgia

Sicca Syndrome 1ry Sjogren Syndrome :

- Xerostomia
- Keratoconjunctivitis sicca dry mouth, dry eyes
- High risk of parotid lymphoma

Sjogren Syndrome 2ry Sjogren Syndrome :

- Dry eyes & dry mouth
- Autoimmune condition Rheumatoid arthritis + SLE

Stevens-Johnson syndrome :
- Severe version of erythyma multiform
- Mucocutaneous condition which is autoimmune
in nature & preciptated by drugs or viral inf.
- Concentric red rings affects hands and feet
- Multiple mucosal involvement

Stickler syndrome:
- Commonest syndrome with cleft palate (20%)
- Myopia & retinal detachment
- Flat mid face
- Hearing loss (80%)
30% of Robin sequence patients have Stickler synd.

Sturge Weber syndrome:

- Hamartomatous angioma affecting upper part of face
- associated Convulsions
( haemangioma in meningies causing mental defect )
Treacher-Collins syndrome mandibulofacial dysostosis :
Autosomal dominant triat (single-gene defect)
(New mutation in 60% of cases)
- Defects in structures derived from 1st brancial arch
- Antimongoloid slant (downward sloping of palpebral fissures)
- Notching of lower eyelids
- Mandibular retrognathia with
high gonial angle
- Hypoplastic air sinuses
- Middle & inner ear deafness
- 30% have Cleft palate
- 25% have tongue-like projections
of hair pointing towards the cheek

Trotter Syndrome:
- Unilateral deafness
- Pain in mandibular division of trigeminal nerve
- Ipsilateral immobility of palate & trismus due to invasion of the lateral wall
of the nasopharynx by malignant tumor
N.B: pterygopalatine fossa syndrome is similar condition in which 1 st & 2ed
divisions of the trigeminal are affected

Von Recklinghausen neurofibromatosis Syndrome:

(Autosomal dominant)
- Multiple neurofibromas
- Skin pigmentation
- Skeletal abnormalities
- CNS involvement
- Predisposition to Malignancy

Wiskott Aldrich Syndrome:

- Immune deficiency with thrombocytopenia & Eczema
- Although thymus is normal there is continuous decrease
in T-lymphocytes. (Multiple infections)
- Purpuric spots on oral mucosa
- Eitiology: absence of sialoglycoprotien from the surface of lymphocytes
& platelets due to mutation of chromosome 16
Syndromes associated with Cleft lip and palate: (CLP)
- Patau syndrome (Trisomy 13) multiple brain & other organs defect
(early death) Up to 70% of cases with CLP
- Down syndrome (Trisomy 21) 1:200 patients with CLP
- Gorlin-Goltz syndrome (5%)
- Orofacial- Digital syndrome
With Cleft Palate:
- Stickler syndrome (20%)
- Treacher-Collins syndrome (30%)
- Robin sequence
- Larsen syndrome

Syndromes associated with Supernumerary teeth:

- Cleidocranial dysostosis
- Gardener syndrome
- Orofacial- Digital syndrome

Syndromes associated with Delayed eruption of teeth:

- Cleidocranial dysostosis
- Down syndrome
(delayed eruption also associated with: - Cretinism - Rickets ''uncommon now''
- Hereditary gingival fibromatosis
- Cherubism

Syndromes associated with Hypodontia:

- Hypohydrotic ectodermal dysplasia
- Down syndrome (one or more third molar are missed in 90%)
- Orofacial- Digital syndrome

Good
luck
M.Fawzy