Tietz syndromeE70.35

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 22.06.2022

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Synonym(s)

Albinism deafness; Albinism Deafness Syndrome; OMIM 103500

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HistoryThis section has been translated automatically.

Tietz, 1960

DefinitionThis section has been translated automatically.

Autosomal-dominantly inherited special form of total albinism with deafness (or deaf-muteness), light blue irides, muteness and eyebrow hypoplasia. So far only 3 patients have been described worldwide.

EtiopathogenesisThis section has been translated automatically.

mutation of the MITF gene mapped on chromosome 3p14.1-p12.3 (MITF = microphthalmia-associated transcription factor).

Clinical featuresThis section has been translated automatically.

Genuine albinism, light blue iris, hypoplasia of the white eyebrows, inner ear deafness, deaf-mute.

Differential diagnosisThis section has been translated automatically.

Waardenburg Syndrome

Zipkrowski-Margolis Syndrome

BADS Syndrome

LiteratureThis section has been translated automatically.

  1. Reed WB, Stone VM, Boder E, Ziprkowski L (1967) Pigmentary disorders in association with congenital deafness. Arch Derm 95: 176-186
  2. Smith SD et al (2000) Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 37: 446-448
  3. Tietz W (1963) A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. At J Hum Genet 15: 259-264
  4. Tietz W (April 1960) Dominant albinism associated with deaf-mutism. At the Society of Human Genetics

Authors

Last updated on: 22.06.2022

Author: Prof. Dr. med. Peter Altmeyer