Conradi-Hnermann Syndrome

Definition: Also referred to as X-linked dominant chondrodysplasia punctata 2 (CDPX2). An Xlinked dominant disorder that has cutaneous, skeletal, and ocular manifestations. CDPX2 is a rare
genodermatosis with intense phenotypic variation. The largest case series reported to date for
CDPX2 have revealed clinical findings consistent with the involvement of the skin, bones and eyes.
Skin involvement (normally defined by ichthyosis following the lines of Blaschko) has been
observed in more than 95% of cases, chondrodysplasia punctata, cicatricial alopecia and asymmetric
shortening of the limbs in around 80%, and cataracts in about 60% of patients. Short stature and
other bone defects have been also found frequently. Unusual clinical associations such as hypotonia,
cri du chat syndrome and hypoglycemia have also been found in patients with CDPX2.
Diagnosis: Prenatal - ultrasound may help in diagnosing, especially when a family history exists.
Molecular prenatal diagnostic is available through the identification of the causing EBP mutation
using chorionic villus samples (performed at 1012 weeks gestation) or amniocentesis (performed at
1518 weeks gestation). Postnatal diagnosis of CDPX2 relies on clinical, biochemical and genetic
tests. Ichthyosis following Blaschko's lines in a female is highly specific for CDPX2 (95%).
Biochemical analyses should be performed when CDPX2 is suspected and if positive they would
show increased levels in 8(9) cholestenol and 8-dehydrocholesterol. Molecular test for emopamil
binding protein (EBP) mutations can confirm the diagnosis.
(Caueto, J., Girs, M., & Gonzlez-Sarmiento, R. 2014).
Cause: Mutations in the emopamil binding protein (EBP) gene, which is located on the short arm of
the X chromosome. EBP functions as a 8-7-sterol isomerase in the cholesterol biosynthesis
pathway, and it catalyzes the conversion of 8(9)-cholestenol to lathosterol. The EBP deficiency that
underlies CDPX2 results in accumulation of 8-dehydrocholesterol and 8(9)-cholestenol in the
plasma, skin, and other tissues.
(Hartman, R. D. M., Molho-Pessach, V. M., & Schaffer, J. V. 2010)

Clinical Presentation/ Assessment:

Growth deficiency/short stature
Craniofacial appearance: Frontal bossing, Flat nasal bridge Sparse eyebrows and lashes, often
asymmetric.
Skeletal: Stippling (chondrodysplasia punctata) involving the epiphyses of the long bones and
vertebrae, the trachea and distal ends of the ribs seen on x-ray. This is the main criterion for
diagnosis of this disorder in infants. The presence of stippling is age dependent and cannot be
seen once normal epiphyseal ossification occurs during childhood. Rhizomelic (i.e., proximal)
shortening of limbs that is often asymmetric, but occasionally symmetric. Postaxial polydactyly
in up to 5% of individuals. Polydactyly appears to be most common in CDPX2 among the
various types of chondrodysplasia punctata. Scoliosis, occasionally congenital.
Skin, hair, and nails: Scaling ichthyosis on an erythematous base arranged in a linear or blotchy
pattern in the newborn period (following lines of X-chromosome inactivation) that usually
resolves in the first months of life. This may be followed by linear or whorled atrophic patches
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involving hair follicles (follicular atrophoderma). Coarse hair with scarring alopecia. Occasional
flattened or split nails with normal teeth.
Ocular: Cataracts (in ~2/3; 67%), often congenital, asymmetric and/or sectorial. Microphthalmia
and/or microcornea.
Occasional malformations (<10% of patients): Sensorineural or conductive hearing loss. Cleft
palate. Congenital heart disease. Renal malformations, including hydronephrosis.CNS
malformations, including Dandy-Walker variant malformation; uncommon in females but
usually present in affected males, especially posterior fossa defect.
(Dempsey MA, Tan C, Herman GE. 2011)
Treatment/ Interventions:
Treatment is symptomatic and should be tailored to each patient.
For females with typical CDPX2 diagnosed in the newborn period:
o Orthopedic management of leg length discrepancy; surgical correction of polydactyly;
frequent assessment of kyphoscoliosis, which can progress rapidly at any age.
o Cataract extraction and correction of vision.
o Dermatologic management of skin lesions
o Physical, occupational, and speech therapies, if necessary
o Standard interventions for congenital heart defects, kidney anomalies, and hearing
loss
(Dempsey MA, Tan C, Herman GE. 2011)
Expected Outcomes/Prognosis:
It is an X-linked male lethal disorder although there are some cases of male survivors
At least 95% of individuals with X-linked chondrodysplasia punctata 2 (CDPX2) are female
Phenotypes range from fetal demise with multiple malformations and severe growth
retardation to much milder manifestations, including adults with no recognizable physical
abnormalities.
Complications: severe scoliosis caused by the disorder can compromise heart and lung
function
(Dempsey MA, Tan C, Herman GE. 2011)
Morbidity & Mortality: 1 in 75,000 to 100,000 births: Typically life expectancy is normal in
individuals with CDPX2 as long as severe scoliosis has not compromised heart and lung function.
(Dempsey MA, Tan C, Herman GE. 2011)
Health needs and Promotion for this disease process

Regular follow-up of ophthalmologic abnormalities

Regular orthopedic evaluations to monitor kyphoscoliosis or joint problems and assess linear
growth and any leg length discrepancy
Ongoing developmental assessments
Ongoing follow-up with dermatologist
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Routine monitoring of any existing cardiac and/or renal abnormalities

Regular hearing evaluations

Genetic Counseling related to family planning and prenatal testing

(Dempsey MA, Tan C, Herman GE. 2011)

Microsystem
Child
General Impression/Work of Breathing/Circulation to Skin
Melissa is a small, underdeveloped, pale 2-year-old Hispanic female admitted to the the Thompson
Home March of 2014. Napping soundly after a morning of activity. Has a tracheostomy with normal
respirations, clear breath sounds, and normal work of breathing. Neither parent is present. Thompson
Home healthcare staff attending to her every need.
Pediatric Assessment Triangle (some information obtained from healthcare staff)
Appearance
T: vigorous purposeful movements
I: Interacts with healthcare staff, has the run of the house
C: In a good mood most of the time
L: Follows movement, good eye contact w/ healthcare staff
S: Tracheostomy
Work of Breathing
Body Position: lying on left side
Visible Movement: abdominal breathing, symmetrical rise/ fall of chest and abdomen
Respiratory Rate: normal
Respiratory Effort: normal
Audible Airway Sounds: clear
Circulation
Skin color: pale
Primary Assessment
A: airway patent; no adventitious breath sounds
B: normal RR, no retractions
C: normal HR, dry lips, CR 3 sec
D: Alert, gross motor development delayed due to condition especially the left arm and leg,
PERRLA.
E: normal skin temp
Secondary Assessment
F: No temp obtained, staff did not want me to wake her.
G: No BP obtained, HR 100 (obtained from pulse oxymetry), RR 20, SaO2 98%.
Pain: no signs of pain
September 14, 2014 (2 year wellness check)
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Weight 22 lbs.
Height 27.3 inches (<5th percentile)
BMI = 21.3 (>95th percentile)
H: Hydrocephalus with ventriculoperitoneal (VP) shunt to decrease intracranial pressure (ICP).
Head free of bugs; no lesions. Skin clear; no acne. Teeth are white and well taken care of, which
reflects appropriate oral hygiene regimen. Child is bathed every day and dressed in clean clothes.
Finger and toe nails are clean and well trimmed.
I: Posterior appears to be without deformities, wounds, or irritation. Disproportionate due to left
side stunted growth.
History
C: Conradi-Hnermann Syndrome
I: Immunizations not listed in given documents, no recent infections/exposures
A: no known allergies
M: Current:
Enteral Medication
Cetirizine 2.5ml QD
Lactobaccilus pediatric packet; add to fdg bag BID
Multi-Vit w/iron 1 ml QD in fdg bag
Reglan 1 ml QID
Enteral PRN
Acetaminophen (160mg/5ml) 3ml Q4hr for fever/discomfort
Cuvposa (1mg/5ml solution) Q8hrs for increased secretions PRN
Docusate (10mg/ml) 1.25 - 2.5ml Q HS for constipation
Prednisolone (15mg/5ml sol) give 3ml BID x 5 day; may need extended course x 10 day;
wean if over 7 day course
Simethicone liquid up to QID
Topical Medication
Aquaphor to trunk and extremities BID
Cetaphil skin cleanser sponge bath
Ciprodex 2gtts both ears BID
Nystatin Topical ointment, apply under trach strap BID
Topical PRN
Calazime to peri area PRN
Nystatin ointment, apply to affected areas (irritation in skin creases eg axillae) QD PRN
Bowel Program
Glycerin ped suppository 1 QD PRN for constipation
Miralax 1tsp with 60ml H20 followed by 30ml H20 flush; hold for multiple stools. > to BID if
no stool x 2 day; QID if hard/infrequent (1 stool x 5 day)
Senokot Syrup 1.25-2.5ml Q HS PRN
Respiratory Medications/Treatments
Budesonide (pulmicort 0.25mg/2ml) BID
Levalbuterol 1 vial by SVN BID (xopenex 0.63mg/3ml)
PRN Respiratory Medications/Treatments
Albuterol MDI meter dose by spacer/ambu (travel- when SVN not available)
Levalbuterol (xopenex 0.63mg/3ml) 1 vial by SVN PRN up to Q 4-6hr
Normal Saline nebulizer treatment PRN
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Trach
3.5 Ped Shiley cuffless trach. Use 3.0 Ped Shiley cuffless trach PRN for emergency
replacement.
Suction trach 8fr to 5.5cm (8cm w/adaptor); oral/nasal PRN
Change trach Q week. Trach care BID; trach tie change QD and PRN; apply nystatin ointment
to neck BID.
Heated mist to trach (02 @ 1LPM) Off 02/mist 2-4hr day as tolerated. Use t-vent when mist
off Oximetry checks throughout day; monitor continuously @ sleep
Trach sputum culture; standing lab order for s/s infection
Nutrition/Fluids
Neocate Jr mix 4 scoops powder with 4oz water; run120ml formula +100ml water @ rate 80100/hr.
Neocate Jr mix 12 scoops with 12oz H20; run 330ml formula +100m! water @ 65ml/hr @
NOC
(When awake may bolus 60cc/hr) 10cc water flush after meds, except 0800 (see Miralax
flush) QD
P: Past Medical History:
08/20/2012 (DOB) 39 weeks gestation, birth wt: 6lb 2oz
04/07/2014 ICHTHYOSIS CONGENITA
CLEFT PALATE UNSPECIFIED
CONRADI-HUNERMANN SYNDROME
PEROXISOMAL DISORDERS
SUBGLOTTIC STENOSIS-S/P TRACHEOSTOMY
GER- S/P G-TUBE INSERTION NISSEN FUNDOPLICATION
UNS CONGENITAL CATARACT
S/P MT INSERTION FOR CHRONIC MUCOID OTITIS MEDIA
NUTRITIONAL SUPPORT / LIFECARE SOLUTIONS
RESPIRATORY INSUFFICIENCY - ribs not growing fast enough, which puts her at risk
for pneumothorax; may place steel ribs for greater expansion.
REACTIVE AIRWAY DISEASE
ANEMIA UNSPECIFIED
S/P TACHYCARDIA UNSPECIFIED
OTHER CONVULSIONS
OBSTRUCTIVE HYDROCEPHALUS STATUS POST VPSHUNT 3 GLOBAL DEVELOPMENTAL DELAY
E: Mom feels that she is a normal baby but she is unable to talk because of her trach.
D: All of her feedings go through her gastrostomy tube and they are resulting in her gaining
weight well.Occasional constipation. Takes multivitamin daily.
S: No additional findings
Diagnostics:
MicroArray analysis resulted in finding a micro deletion at 22q11.2 consistent with 22q11.2 deletion
syndrome or DiGeorge syndrome.
Developmental Age/Stage:
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According to the healthcare staff, Melissa has improved cognitively, socially,and emotionally
since her entry into the Thompson Home in March 2014. She did not have much interaction or
movement while living with her parents. They said that they kept her in her crib most of the time.
One of the therapists that has evaluated her said that she was 6 months behind. According to the
healthcare staff, her behavior is that of a normal 2-year-old.
Physical
Fine Motor Ability: Developmentally delayed on left side.
Gross Motor Ability: Developmentally delayed on left side.
Speech/Language: Cannot speak due to trach but is learning sign language.
Cognitive (Piaget)/birth to age 2: Sensorimotor stage is evident as Melissa is trying to make
sense of the world, which for her is the Thompson Home.
Social/Emotional Interaction (Erikson): Between autonomy vs. shame and doubt and trust
vs. mistrust: Melissa appears to be developing a greater sense of personal control as she
moves about the house but she also appears to be developing trust as she tests the caregivers
by attempting to pull out her trach.
Preconventional level of the Punishment-Obedience stage (Kohlberg): Melissa knows the
rules and consequences concerning her trach although it is more of a self punishment if she
does not comply with the rules.
Child/Caregiver understanding: Melissa was born with her condition and appears to be in
the process of understanding her limitations and the consequences of ignoring those
limitations.
Nutrition: Feedings through gastrostomy tube of Neocate Infant and Neocate Jr. resulting in Melissa
gaining weight very well.
Anticipatory Guidance: Guidance is needed for language development and temperament and
behavior with her trach. Safety concerns include reinforcing trach safety, prevention of accidents
from choking hazards, teaching her not to play with her trach, which she does to get attention.

Gilberto
Garcia

Consuelo
Chavez
Aguilar

Family
Figure 1 Genogram

2012

Pertinent family health history:

Mother presumed to have same

Samantha 6

Melissa
Garcia
Chavez

condition as Melissa due to her being short in stature and had cataracts although she refuses
testing.
Composition/Structure: Mother Consuelo, Father Gilberto. Patient lived with parents until
March 2014 and has since lived at the Thompson Home. According to the healthcare staff, parents
visit for about 15 minutes every day.
Interaction/coping patterns: Mother had fired about 30 in home care nurses prior to Melissa being
accepted into the Thompson Home. She is currently pregnant although does not intend on having
tests to determine if this child has the same condition as Melissa.
Lifestyle and living environment: Quiet rural house, healthcare staff sets daily routine. Lives in a
wonderful caring environment with other children that have varying degrees of debilitating
conditions.
Health concept, behaviors, and challenges: According to the healthcare staff, parents visit for 15
minutes every day. Melissa is awake and active from about 0700 until 1200 hours and from 1600
until 2100 hours. She is so active that she needs all of her 4 hour nap. According to the
healthcare staff, the only challenge that they have with her is keeping her from playing with her
trach and taking it out. They said that she only does it to get attention but she did take it out once
and arrested.
Financial resources/employment status: Melissas healthcare is taken care of by Medicaid and the
Thompson Home.
Linkages with community: Thompson Home healthcare staff, volunteers, family, local area medical
professionals, Spokane medical professionals, and Seattle medical professionals.

Figure 2 Melissas Ecomap

Mesosystem
School/Childcare: Melissa has therapists that work with and evaluate her.
Relationships with teacher/peers: Interacts and plays appropriately; not much separation/ stranger
anxiety.
Academic ability and achievement: Currently working on cognitive, gross/fine motor, sign
language, and social developmental goals and she is advancing well for her condition.
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Attitudes toward school/learning: Melissa appears to have a good attitude toward learning.
Health Care/Access: PCP is Dr. R. Gavino; Source(s) of specialty health care Shriners Hospital
(orthopedics); Sacred Heart (Spokane) Doctor specializing in condition and Genetic
Counselor; local and emergency services are utilized appropriately when necessary.
Quality of relationship with health care providers: Mother went through 30 in home care nurses
in an 18 month period and does not appear to like any of the care that her child has received
from that situation. Do not know her attitude toward the Thompson Home. Thompson Home
healthcare staff works well with local and specialty care medical professionals.
Financial resources/agencies used: Melissas care is exclusively through Medicaid and the
Thompson Home.
Other: Melissa and the Thompson Home rely on volunteers to help with her care.
Exo- & Macrosystem
Thompson Home healthcare staff reported that all of the healthcare professionals that work with
Melissa are very supportive. She will have a future of many surgeries, therapies, and treatments and
will need to rely on these professionals for a long time to come.
Resiliency

Pro-social bonding: with Thompson Home healthcare staff and volunteers.

Set clear consistent boundaries: set/ follow regular daily schedule and routines
Learn new life skills: anticipatory guidance to include general safety (choking, electrical
hazards, chemicals, falls) and specific safety (trach, meds, surgery, wound care)
Provide caring and support: allow child to try new toys, experiences, etc.; fear of doctors
could become a problem with all of the future surgeries she will have to endure.
Set and communicate high expectations: no hitting or biting, point to item wanted, continue
increasing sign language vocabulary
Praise family for visitation, participation, and dedication to health and safety

Legal/ Ethical Considerations

Health Insurance: Melissas insurance is Medicaid and it is not documented about

whether the parents provide any support through supplemental insurance .
Melissa will require extensive healthcare for many years to come with a
multitude of surgeries to correct her disabilities.
Budget cuts to Medicaid will be detrimental to Melissas future although
enactment of the Children's Access to Reconstructive Evaluation & Surgery
(CARES) Act of 2011 would be a godsend for her future.

H.R. 1955 (112th): Childrens Access to Reconstructive Evaluation & Surgery (CARES) Act of
2011 Introduced: May 24, 2011 (112th Congress, 20112013)
Nursing Diagnoses
1. Ineffective airway clearance r/t tracheobronchial secretion.
2. Ineffective breathing pattern r/t musculoskeletal impairment.
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3. Risk for impaired skin integrity r/t presence of tracheostomy.

4. Risk for infection r/t invasive procedure of shunt insertion.
5. Imbalanced nutrition: less than body requirements r/t inability to ingest food.
6. Risk for compromised resilience r/t complications of disease.
7. Alteration in mobility r/t postural imbalance as evidenced by scoliosis.
8. Compromised family coping r/t the childs condition and prognosis.
9. Impaired parenting r/t child separated from parents.
10. Interrupted family processes r/t disabled child living away from parents.
Child:

Ineffective breathing pattern related to musculoskeletal impairment as

evidenced by decreased respiratory depth/chest expansion.
Goals:
1. Melissa will maintain a breathing pattern that supports blood gas results
within the clients normal parameters every day.
2. Melissa will maintain the ability to breathe comfortably every day.
3. Melissa will avoid specific factors that exacerbate episodes of ineffective
breathing patterns every day.
Interventions: Monitor Melissas blood gas levels and provide supplemental
oxygen via hood, tent, cannula, or face mask as needed if hypoxia results from
inadequate breathing pattern and ventilation; if a she is apneic, provide access
at bedside at all times..
Rationale: Maintains oxygen level in blood to maintain tissue and organ
function, amount and type of oxygen administration dependent on hypoxia and
changes in mentation. [Luxner, K. L. (2004). Delmars pediatric nursing care
plans (3rd ed.)]
Implementation and Evaluation: Melissas caregivers monitor her 24/7 to
ensure that she is meeting her goals and outcomes. Her primary problem is that
her ribs are not growing at a fast enough rate to keep up with her lung growth
and soon she will have to go in for surgery to have artificial titanium ribs inserted
to expand the chest cavity.

Risk for infection related to invasive procedures due to the presence of

an AV shunt and tracheostomy.
Goals:
1. Melissa will have normal temperature, WBC count, and differential every
day.
10

2. Melissa will be supported to maintain good personal and oral hygiene

every day.
3. Melissa will have clear and odorless respiratory secretions every day.
Interventions: Assess shunt and trach sites for inflammatory process,
temperature, odor, WBC, dressings every 4 hours. Maintain good handwashing
and aseptic technique at all times.
Rationale: Assessments provide data indicating presence or potential for
infection which affect shunt and trach function as well as overall health of the
individual. Both good hand-washing and aseptic technique are necessary to
prevent infections. [Luxner, K. L. (2004). Delmars pediatric nursing care plans
(3rd ed.)]
Implementation and Evaluation: Melissa is closely monitored for infection as
it is her biggest vulnerability. She does get respiratory infections quite often but
they have never been serious enough to warrant hospitalization. To date, she has
not had any VP shunt infections.
Family:

Impaired parenting related to child separated from parents as

evidenced by lack of parental attachment behaviors.
Goals:
1. Parents will exhibit improved parenting skills by demonstrating
appropriate parenting behaviors every time they visit.
2. Parents will exhibit improved parenting skills by establishing a positive
relationship with Melissa and realistic expectations for self and Melissa
and list the expectations to be gone over and evaluated every visit.
3. Parents will exhibit improved parenting skills by maintaining a safe
environment for Melissa every time they visit.
Interventions: Determine the interaction between parents and Melissa, the
parents' financial status, work demands, support systems, and their knowledge
of Melissa. We as caregivers can act as role models for parenting when caring for
the child in the presence of the parents. Involve parents in the care of the child
as much as possible. Provide books, videos, and internet sources that will help
the parents' quest for enhanced knowledge. .
Rationale: To identify appropriate interventions for this diagnosis we will first
have to assess as listed in the first intervention. Lack of knowledge of routine
child care practices, as well as growth and developmental norms, significantly
11

contributes to child abuse. Involving parents will promote attachment to Melissa.

Supplying some media materials and websites directly may be a motivation for
the parents to search further. [Luxner, K. L. (2004). Delmars pediatric nursing
care plans (3rd ed.)]
Implementation and Evaluation: Unfortunately the parents do not appear to be
interested in spending much time with Melissa as they only visit about 15 minutes a
day and do not interact with her other than watch her in her crib. Being at the
Thompson Home has positively improved Melissas quality-of-life as her developmental
progress has shown that she is like any other child her age in intelligence and behavior.
The only thing holding her back is her lack of physical development but there are plans
to correct as much of that as possible.

References
Caueto, J., Girs, M., & Gonzlez-Sarmiento, R. (2014). The role of the abnormalities in the distal
pathway of cholesterol biosynthesis in the ConradiHnermannHapple syndrome. The Important
Role of Lipids in the Epidermis and Their Role in the Formation and Maintenance of the Cutaneous
Barrier, 1841(3), 336344. doi:10.1016/j.bbalip.2013.09.002
Dempsey MA, Tan C, Herman GE. Chondrodysplasia Punctata 2, X-Linked. (2011 May
31). In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet].
Seattle (WA): University of Washington, Seattle; 1993-2014. Retrieved from:

http://www.ncbi.nlm.nih.gov/books/NBK55062/
Hartman, R. D. M., Molho-Pessach, V. M., & Schaffer, J. V. (2010). Conradi-HnermannHapple syndrome. Dermatology Online Journal, 16(11). Retrieved from
http://www.escholarship.org/uc/item/8c0053h9

H.R. 1955 (112th): Childrens Access to Reconstructive Evaluation & Surgery (CARES) Act of
2011 Introduced: May 24, 2011 (112th Congress, 20112013)
Luxner, K. L. (2004). Delmars pediatric nursing care plans (3rd ed.). Cengage Learning,
Millikin University, Decatur, IL.

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