Albinism–deafness syndrome explained

Albinism–deafness syndrome
Synonyms:Woolf syndrome and Ziprkowski–Margolis syndrome
Field:Dermatology

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]

See also

Notes and References

  1. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 928 . 978-1-4160-2999-1 .
  2. Shiloh Y, Litvak G, Ziv Y . Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I . Am. J. Hum. Genet. . 47 . 1 . 20–7 . July 1990 . 2349949 . 1683749 . etal.
  3. Zlotogora J . X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis . Am. J. Med. Genet. . 59 . 3 . 386–7 . November 1995 . 8599367 . 10.1002/ajmg.1320590321 .