Table 2.

Frequency of Clinical Findings in Wolf-Hirschhorn Syndrome

Findings 1Frequency
  • Typical facial features (see Suggestive Findings)
  • Intrauterine/postnatal growth retardation
  • Intellectual disability
  • Hypotonia
  • Decreased muscle bulk
  • Seizures and/or distinctive EEG abnormalities
  • Feeding difficulties
>75%
  • Skin changes (hemangioma; marble/dry skin)
  • Skeletal anomalies
  • Craniofacial asymmetry
  • Ptosis
  • Abnormal teeth
  • Antibody deficiency
50%-75%
  • Hearing loss
  • Heart defects
  • Eye/optic nerve anomalies
  • Cleft lip/palate
  • Genitourinary tract anomalies
  • Structural brain anomalies
  • Stereotypies (hand washing/flapping, rocking)
25%-50%
Anomalies of the following:
  • Liver
  • Gallbladder
  • Gut
  • Diaphragm
  • Esophagus
  • Lung
  • Aorta
<25%
1.

Bolded features represent the core phenotype of WHS.

From: Wolf-Hirschhorn Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

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