Medicine:Albinism–deafness syndrome
| Albinism–deafness syndrome | |
|---|---|
| Other names | Woolf syndrome and Ziprkowski–Margolis syndrome |
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| Albinism–deafness syndrome is inherited in an X-linked recessive manner | |
| Specialty | Dermatology |
Albinism–deafness syndrome is a rare condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation.[1]
A locus at Xq26.3-q27.1 has been suggested.[2]
It has been suggested that it is a form of Waardenburg syndrome type II.[3]
Presentation
Males affected by albinism-deafness syndrome present with profound sensorineural deafness and severe pigmentary abnormalities of the skin (piebald pigmentary variegation).
Female carriers present with variable hearing impairment without pigmentary abnormalities.[4]
Cause
The gene that causes albinism-deafness syndrome is thought to be located on the q arm of the X chromosome. It has been variously mapped to Xq26.3-q27.1 and Xq24-q26 using DNA probes.[4]
See also
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 928. ISBN 978-1-4160-2999-1.
- ↑ "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20–7. July 1990. PMID 2349949.
- ↑ Zlotogora J (November 1995). "X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis". Am. J. Med. Genet. 59 (3): 386–7. doi:10.1002/ajmg.1320590321. PMID 8599367.
- ↑ 4.0 4.1 "Orphanet: Albinism-deafness syndrome". 9 April 2025. https://www.orpha.net/en/disease/detail/998.
External links
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