Synonym(s)
ADFN; Albinism deafness syndrome; Margolis Syndrome; Woolf-Dolowitz-Aldous-Zipkrowski-Margolis syndrome
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.
- Margolis E (1962) A new hereditary syndrome--sex-linked deaf-mutism associated with total albinism. Acta Genet Statist Med 12: 12-19
- 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
- Woolf CM et al (1965) Congenital deafness associated with piebaldness. Arch Otolaryng 82: 244-250
- Zucchi I et al (1999) Transcription map of Xq27: candidates for several X-linked diseases. Genomics 57: 209-218
Incoming links (1)
Tietz syndrome;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.