Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Tietz syndrome

Synonym(s) Hypopigmentation-deafness syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10 -
  • C0391816
  • C536919
MedDRA -


Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.

Tietz syndrome has been reported in 7 families to date.

Affected cases have a pale skin, blue eyes and light blond to white hair with white eyebrows and eyelashes. They gradually gain some pigmentation often as freckles on sun-exposed areas. Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.

The syndrome is due to a missense mutation or in-frame deletion of one amino acid in the basic domain of the MITF (3p14-p13) gene, coding a basic helix-loop-helix (bHLH) leucine zipper transcription factor, regulating melanocyte development and the biosynthetic melanin pathway. However, these types of mutations give rise to variable phenotype, ranging from Tietz syndrome to Waardenburg syndrome type 2 (see this term), with possible interactions with modifier loci.

Tietz syndrome is an autosomal dominant syndrome. Genetic counseling is recommended.

Expert reviewer(s)

  • Dr Véronique PINGAULT

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.