WOLF-HIRSCHHORN SYNDROME

WHS; Chromosome 4p Deletion Syndrome; Chromosome 4p Monosomy; Del(4p) Syndrome; Monosomy 4p; Partial Monosomy 4p; Pitt-Rogers-Danks Syndrome; PRDS

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: 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:

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  Craniofacial defects (dysmorphic facial features);

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  Microcephaly;

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  Facial stigmata;

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  Prenatal-onset of growth deficiency followed by growth delay;

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  Hypotonia (floppy muscle tone); and

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  Muscle underdevelopment.

Other findings include:

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  Skeletal anomalies, such as scoliosis or kyphosis;

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  Congenital heart defects;

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  Conductive hearing loss;

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  Seizures;

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  Skin changes, such as mottled or dry skin;

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  Missing teeth;

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  Cleft palate or cleft lip; and

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  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

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 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*

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Genetic laboratory findings are needed to confirm the diagnosis;

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  Imaging may show delayed bone maturation, anterior fusion of vertebrae, fused ribs, dislocated hips, proximoral radioulner synostosis, and club feet; and

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

Suggested Listings for Evaluation:

REMARKS