Albinism–Deafness Syndrome

Classification	D ICD-10: H90.5; OMIM: 300700; MeSH: C537042;
External resources	Orphanet: 998;

Albinism–deafness syndrome
Other names	Woolf syndrome and Ziprkowski–Margolis syndrome
	Albinism–deafness syndrome is inherited in an X-linked recessive manner

Albinism–deafness syndrome is a 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.I has been suggested.^[2]

It has been suggested that it is a form of Waardenburg syndrome type II.^[3]

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.

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[Bolognia-1] 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.

[pmid2349949-2] "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.

[pmid8599367-3] 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.

Albinism–deafness syndrome
Other names	Woolf syndrome and Ziprkowski–Margolis syndrome

Albinism–deafness syndrome is inherited in an X-linked recessive manner

Classification	D ICD-10: H90.5 OMIM: 300700 MeSH: C537042
External resources	Orphanet: 998

Albinism–Deafness Syndrome

See also

References

External links