Albinism–deafness syndrome

Albinism–deafness syndrome
Classification and external resources
OMIM 300700

Albinism–deafness syndrome (also known as "Woolf syndrome," and "Ziprkowski–Margolis 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

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 928. ISBN 1-4160-2999-0. 
  2. ^ Shiloh Y, Litvak G, Ziv Y, et al. (July 1990). "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20–7. PMC 1683749. PMID 2349949. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1683749. 
  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. 
Hypo-/
leucism
Loss of melanocytes
Leukoderma w/o
hypomelanosis
Ungrouped
Hyper-
Reticulated
Diffuse/
circumscribed
Linear
Other/ungrouped
Other
pigments
Dyschromatoses

M: INT, SF, LCT

anat/phys/devp

noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)