Zipkrowski-margolis syndromeE70.3

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

ADFN; Albinism deafness syndrome; Margolis Syndrome; Woolf-Dolowitz-Aldous-Zipkrowski-Margolis syndrome

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DefinitionThis section has been translated automatically.

Very rare, probably X-linked recessive syndrome with deafness, piebald-like hypomelanosis of skin and hair, translucent iris. At birth the skin is usually completely depigmented, later round-oval, hyperpigmented spots appear on the trunk and extremities.

TherapyThis section has been translated automatically.

Symptomatic. Textile and physical/chemical light protection (SPF > 30, e.g. Anthelios, see also light protection agents). Regular checks of the skin to exclude malignant tumours. Genetic counselling, see also Piebaldism.

LiteratureThis section has been translated automatically.

  1. Margolis E (1962) A new hereditary syndrome--sex-linked deaf-mutism associated with total albinism. Acta Genet Statist Med 12: 12-19
  2. Ziprkowski L, Krakowski A, Adam A, Costeff H, Sade J (1962) Partial albinism and deaf-mutism due to a recessive sex-linked gene. Arch Derm 86: 530-539
  3. Woolf CM et al (1965) Congenital deafness associated with piebaldness. Arch Otolaryng 82: 244-250
  4. Zucchi I et al (1999) Transcription map of Xq27: candidates for several X-linked diseases. Genomics 57: 209-218

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer