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Albinism–deafness syndrome

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Medical condition
Albinism–deafness syndrome
Other namesWoolf syndrome and Ziprkowski–Margolis syndrome
Albinism–deafness syndrome is inherited in an X-linked recessive manner
SpecialtyDermatology

Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation.

A locus at Xq26.3-q27.I has been suggested.

It has been suggested that it is a form of Waardenburg syndrome type II.

See also

References

  1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 928. ISBN 978-1-4160-2999-1.
  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.
  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.

External links

ClassificationD
External resources
Pigmentation disorders/Dyschromia
Hypo-/
leucism
Loss of
melanocytes
Vitiligo
Syndromic
Melanocyte
development
Loss of melanin/
amelanism
Albinism
Melanosome
transfer
Other
Leukoderma w/o
hypomelanosis
Ungrouped
Hyper-
Melanin/
Melanosis/
Melanism
Reticulated
Diffuse/
circumscribed
Linear
Other/
ungrouped
Other
pigments
Iron
Other
metals
Other
Dyschromia
See also

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