Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • WHS
  • Wolf syndrome
  • Chromosome 4p syndrome
  • Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation

Wolf-Hirschhorn syndrome
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Wolf-Hirschhorn syndrome is a genetic condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. Most cases of this disorder are not inherited, although sometimes Wolf-Hirschhorn syndrome is inherited from an unaffected parent.[1]

References
  1. Wolf-Hirschhorn syndrome. Genetic Home Reference Website. January 2009 Available at: http://ghr.nlm.nih.gov/condition=wolfhirschhornsyndrome. Accessed May 5, 2009.

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