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GTR Home > Conditions/Phenotypes > Syndactyly-telecanthus-anogenital and renal malformations syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

Synonyms
STAR syndrome; SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS; Syndactyly, telecanthus, anogenital and renal malformations; Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations; Toe syndactyly, telecanthus, anogenital and renal malformations
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function. [from SNOMEDCT_US]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CycM, FAM58A, CCNQ
    Summary: cyclin Q

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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