Stapes Ankylosis with Broad Thumbs and Toes (SABTS)

Alias:

Stapes Ankylosis with Broad Thumb and Toes

Teunissen-Cremers Syndrome

Ankylosis of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, and Syndactyly

Stapes Ankylosis Syndrome Without Symphalangism

Sabts

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Stapes Ankylosis with Broad Thumbs and Toes, also known as stapes ankylosis with broad thumb and toes, is related to symphalangism, proximal, 1a and chromosome 2q35 duplication syndrome. An important gene associated with Stapes Ankylosis with Broad Thumbs and Toes is NOG (Noggin). Affiliated tissues include bone and eye, and related phenotypes are broad thumb and conductive hearing impairment

Related ID：

MALACARDS：STP011

OMIM：184460

MESH：D009140