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GTR Home > Conditions/Phenotypes > Proximal symphalangism 1A

Proximal symphalangism 1A

Summary

Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). Genetic Heterogeneity of Proximal Symphalangism Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146). [from OMIM]

Available tests

22 tests are in the database for this condition.

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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