Wolf–Hirschhorn syndrome
| Wolf-Hirschhorn syndrome | |
|---|---|
Young girl with Wolf-Hirschhorn syndrome
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | Q93.3 |
| ICD-9-CM | 758.3 |
| OMIM | 194190 |
| DiseasesDB | 32279 |
| eMedicine | ped/2446 |
| Patient UK | Wolf–Hirschhorn syndrome |
| MeSH | D054877 |
| GeneReviews | |
| Orphanet | 280 |
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)).[6]
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.[7] Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.[8]
Genetics
Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSC1 and WHSC2.[9] About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. In the cases of familial translocation, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. Severity of symptoms and expressed phenotype differ based on the amount of genetic material deleted. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescence in situ hybridization (FISH). Genetic testing and genetic counseling is offered to affected families.
See also
References
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- WolfHirschhorn.org
- whs at NIH/UW GeneTests
- Wolf-Hirschhorn syndrome at www.orpha.net (Adobe .pdf format)
- 4P- Support Group
- Wolf Hirschhorn Syndrome Trust for the UK and Ireland
- http://wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/
- http://www.ncbi.nlm.nih.gov/books/NBK1183/
- Wolf-Hirschhorn syndrome on Genetics Home Reference
- Craig Richardson: A Life Worth Living, With Disabilities, by Rebecca Richardson, RN, BSN.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) Wolf-Hirschhorn syndrome -194190
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- ↑ Wieczorek D. Wolf-Hirschhorn syndrome. Orphanet encyclopedia. September 2003: http://www.orpha.net/data/patho/GB/uk-WHS.pdf
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