Rare Diseases Symptoms Automatic Extraction

A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

Diseases presenting "short arm" symptom

  • cystinuria
  • kindler syndrome
  • monosomy 21
  • pyruvate dehydrogenase deficiency
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

You can validate or delete this automatically detected symptom