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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 25/10/2008 |
Symbol | SABT |
Location | 17q22 |
Name | stapes ankylosis with broad thumb and toes |
Other name(s) | Teunissen-Cremers syndrome |
Corresponding gene | NOG |
Other symbol(s) | TCS |
Main clinical features | ankylosis of stapes, contractures of the elbows and knees, hyperopia and lens opacities, broad thumbs, broad first toes, and syndactyly. In most, stapedial ankylosis was bilateral, leading to a 40 to 60 dB conductive hearing loss, bilateral syndactyly of the second and third toe, fused cervical vertebrae |
Genetic determination | autosomal dominant |
Function/system disorder | osteo-articular |
Type | malformation |
Gene product |
Name | noggin |
Remark(s) |