ContentsSynopsisCodesBest TestsReferences
Tietz syndrome
Print
Other Resources UpToDate PubMed

Tietz syndrome

Print Images (1)
Other Resources UpToDate PubMed

Synopsis

A very rare autosomal-dominant inherited disorder of melanocytes, which presents with pale skin, eyes, and hair (hypopigmentation), and bilateral profound sensorineural hearing loss. Other features include white eyelashes and eyebrows and blue eyes, with normal psychomotor development. The same MITF gene mutation produces Waardenburg syndrome type 2.

For more information, see OMIM.

Codes

ICD10CM:
E70.8 – Other disorders of aromatic amino-acid metabolism

SNOMEDCT:
403805009 – Albinism-deafness syndrome of Tietz

Best Tests

Subscription Required

References

Subscription Required

Last Updated: 03/29/2017
Copyright © 2019 VisualDx®. All rights reserved.
Tietz syndrome
Print 1 Images
Tietz syndrome : Deafness, Fundi hypopigmented
Copyright © 2019 VisualDx®. All rights reserved.