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Wolf–Hirschhorn syndrome
Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt-Rogers-Danks syndrome (PRDS) or Pitt syndrome, was first described in 1961 by Americans Herbert L. Cooper and Kurt Hirschhorn 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''. 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 restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness.〔Wieczorek D. Wolf-Hirschhorn syndrome. Orphanet encyclopedia. September 2003: http://www.orpha.net/data/patho/GB/uk-WHS.pdf〕 Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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