Wolf-Hirschhorn syndrome

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Disease Overview

Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures. Other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, and/or structural brain abnormalities. WHS is caused by a missing piece (deletion) of genetic material near the end of the short (p) arm of chromosome 4 (written as 4p-). The size of the deletion varies among people with WHS, and studies suggest larger deletions tend to result in more severe features. Most cases of WHS are not inherited, but some cases are inherited from a parent who does not have WHS.[1172][7958] Treatment depends on the symptoms.


Synonyms

  • WHS
  • Wolf syndrome
  • Chromosome 4p syndrome
  • Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation
  • 4p syndrome
  • Distal deletion 4p
  • 4p- syndrome
  • Distal monosomy 4p
  • Telomeric deletion 4p
  • Pitt-Rogers-Danks syndrome
  • Wittwer syndrome

For more information, visit GARD.

National Organization for Rare Disorders