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. Typical physical manifestations include craniofacial defects, microcephaly, facial stigmata, and prenatal-onset of growth deficiency followed by growth delay, hypotonia, and muscle underdevelopment. Other findings include skeletal anomalies, congenital heart defects, conductive hearing loss, and seizures. Delayed intellectual development is variable but present in all. Moderate to profound intellectual disability is estimated present in 85 percent of those affected. Expressive language is limited to guttural sounds and simple sentences.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-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. FISH deletion duplication analysis).

Physical findings: There is delayed growth and development along with evidence of skin changes, such as mottled or dry skin; skeletal abnormalities, such as scoliosis or kyphosis; missing teeth; and cleft palate or cleft lip. Abnormalities of the eyes, heart, genitourinary tract, and brain have also been reported.

ICD-9: 758.39

ONSET AND 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

• Developmental assessment or psychological testing to address allegations of mental impairment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08B

Medical Equals