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Wolf-Hirschhorn syndrome

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Title: Wolf-Hirschhorn syndrome  
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Subject: Chromosome, WHS, Aneuploidy, List of geneticists, List of congenital disorders, Hypertelorism, Chromosome abnormality, Aplasia cutis congenita, Kurt Hirschhorn
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Wolf-Hirschhorn syndrome

Wolf–Hirschhorn syndrome
Classification and external resources
ICD-10 9 OMIM DiseasesDB eMedicine ped/2446

Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt-Rogers-Danks syndrome (PRDS) or Pitt syndrome,[1][2] was first described in 1961 by Americans Herbert L. Cooper and Kurt Hirschhorn[3] and, thereafter, gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine Humangenetik.[4][5] It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4 (del(4p16.3)).

Signs and symptoms

The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth and mental retardation, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness.[6] Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.[7]

Genetics

Wolf–Hirschhorn syndrome is caused by a partial deletion of the short arm of genetic counseling is offered to affected families.

References

External links

  • WolfHirschhorn.org
  • UW GeneTests
  • Wolf-Hirschhorn syndrome at www.orpha.net (Adobe .pdf format)
  • 4P- Support Group
  • Wolf Hirschhorn Syndrome Trust for the UK and Ireland
  • Craig Richardson: A Life Worth Living, With Disabilities, by Rebecca Richardson, RN, BSN.
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