This MedLibrary.org supplementary page on Wolf-Hirschhorn syndrome is provided directly from the open source Wikipedia as a service to our readers. Please see the note below on authorship of this content, as well as the Wikipedia usage guidelines. To search for other content from our encyclopedia supplement, please use the form below:
Related Sponsors
| Wolf-Hirschhorn syndrome Classification and external resources |
|
| ICD-10 | Q93.3 |
|---|---|
| ICD-9 | 758.3 |
| OMIM | 194190 |
| DiseasesDB | 32279 |
| eMedicine | ped/2446 |
Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p- syndrome was first described in 1961 by the Americans Herbert L. Cooper and Kurt Hirschhorn1, 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'.2 3It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4.
Contents |
Signs and symptoms
The most common abnormalties seen include severe to profound mental retardation, microcephaly (small head), seizures, poor muscle tone, and cleft lip and/or cleft palate. Characteristic facial features, include strabismus, hypertelorism, down-turned "fishlike" mouth, short upper lip and philtrum, small chin, ear tags or pits, and cranial asymmetry. Occasional abnormalities include heart defects, hypospadias, scoliosis, ptosis, fused teeth, hearing loss, delayed bone age, low hairline with webbed neck, and renal anomalies.
Genetics
Wolf-Hirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4, particularly in the region of WHSC1 and WHSC2. 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. The symptoms and phenotype do not differ based on the size of the deletion. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescent in situ hybridization (FISH). Genetic testing and genetic counseling is offered to affected families.
References
- ^ Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mammalian Chrom Nwsl. 1961;4:14.
- ^ Hirschhorn K, Cooper HL, Firschein IL. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik. 1965;1(5):479-82.
- ^ Wolf U, Reinwein H, Porsch R, et al. [Deficiency on the short arms of a chromosome No. 4]. Humangenetik. 1965;1(5):397-413.
External links
- whs at NIH/UW GeneTests
- Wolf-Hirschhorn syndrome at www.orpha.net (Adobe .pdf format)
- 4P- Support Group
Notes
- Cooper H, Hirschhorn K (1961). "Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion". Mammalian Chrom Nwsl. (4): 14.
- Hirschhorn K, Cooper HL, Firschein IL (1965). "Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion". Humangenetik 1 (5): 479–82. PMID 5895684.
- Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H (1965). "[Deficiency on the short arms of a chromosome No. 4]" (in German). Humangenetik 1 (5): 397–413. PMID 5868696.
|
|||||||||||||||||||||||||||
Wikipedia content modification information:
- This page was last modified on 22 October 2008, at 17:28.
Wikipedia Authorship and Review
Wikipedia content provided here is not reviewed directly by MedLibrary.org. Wikipedia content is authored by an open community of volunteers and is not produced by or in any way affiliated with MedLibrary.org.
Wikipedia Usage Guidelines
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article on "Wolf-Hirschhorn syndrome".
The URL for this specific entry is:
All Wikipedia text is available under the terms of the GNU Free Documentation License. (See Copyrights for details). Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc.