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GTR Home > Conditions/Phenotypes > Stapes ankylosis with broad thumbs and toes

Stapes ankylosis with broad thumbs and toes

Synonyms
ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY; STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM; Stapes ankylosis with broad thumb and toes; TEUNISSEN-CREMERS SYNDROME
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22). [from SNOMEDCT_US]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SYM1, SYNS1, SYNS1A, NOG
    Summary: noggin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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