Synonym(s)
Albinism deafness; Albinism Deafness Syndrome; OMIM 103500
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.
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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.
LiteratureThis section has been translated automatically.
- Reed WB, Stone VM, Boder E, Ziprkowski L (1967) Pigmentary disorders in association with congenital deafness. Arch Derm 95: 176-186
- Smith SD et al (2000) Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 37: 446-448
- Tietz W (1963) A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. At J Hum Genet 15: 259-264
- Tietz W (April 1960) Dominant albinism associated with deaf-mutism. At the Society of Human Genetics
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Outgoing links (4)
Albinism (overview); Bads syndrome; Waardenburg syndrome (overview); Zipkrowski-margolis syndrome;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer