Program Operations Manual System (POMS)
TN 36 (09-20)
DI 23022.915 Wolf-Hirschhorn Syndrome
COMPASSIONATE ALLOWANCES INFORMATION
|
WOLF-HIRSCHHORN SYNDROME
|
ALTERNATE NAMES
|
WHS; Chromosome 4p Deletion Syndrome; Chromosome 4p Monosomy; Del(4p) Syndrome; Monosomy
4p; Partial Monosomy 4p; Pitt-Rogers-Danks Syndrome; PRDS
|
DESCRIPTION
|
Wolf-Hirschhorn Syndrome (WHS) is a genetic condition caused by loss of genetic material in the short arm of chromosome
4. The size of the deletion can vary among persons and determines the type and severity
of the condition(s). The loss is associated with early deficits in physical and mental
development.
|
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
|
Diagnostic testing: Diagnosis is based on characteristic clinical findings and confirmed by genetic testing
showing deletion of the critical gene region (WHSCR).
Genetic testing may include cytogenetic analysis, molecular genetic testing and clinical
testing (i.e. Fluorescence in situ hybridization (FISH)) deletion duplication analysis).
Physical findings:
-
•
Craniofacial defects (dysmorphic facial features);
-
-
-
•
Prenatal-onset of growth deficiency followed by growth delay;
-
•
Hypotonia (floppy muscle tone); and
-
Other findings include:
-
•
Skeletal anomalies, such as scoliosis or kyphosis;
-
•
Congenital heart defects;
-
-
-
•
Skin changes, such as mottled or dry skin;
-
-
•
Cleft palate or cleft lip; and
-
•
Abnormalities of the eyes, genitourinary tract, and brain have also been reported.
Delayed intellectual development is variable but present in all. Moderate to profound
intellectual disability is estimated present in 85% of those affected. Expressive
language is limited to guttural sounds and simple sentences.
ICD-9:
758.39
ICD-10: Q93.59
|
PROGRESSION
|
Delayed growth and development begins before birth. Affected infants have problems
with feeding and weight gain (failure to thrive) and hypotonia. These children have
delayed development in areas involving the ability to sit, stand, and walk. Most children
with this disorder have a short stature.
|
TREATMENT
|
Treatment includes standard modalities for physical defects and special therapies
directed toward developmental and communicative deficits. Gastrostomy may be needed
in infancy to protect the airway of children with major feeding difficulty.
|
SUGGESTED PROGRAMMATIC ASSESSMENT*
|
Suggested MER for Evaluation:
-
•
Clinical history and examination that describes the diagnostic features of the impairment;
-
•
Genetic laboratory findings are needed to confirm the diagnosis;
-
•
Imaging may show delayed bone maturation, anterior fusion of vertebrae, fused ribs,
dislocated hips, proximoral radioulner synostosis, and club feet; and
-
•
Developmental assessment or psychological testing to address allegations of mental
impairment.
|
Suggested Listings for Evaluation:
|
DETERMINATION
|
LISTING
|
REMARKS
|
Meets
|
110.08 B
|
|
Equals
|
|
|
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
|