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GTR Home > Conditions/Phenotypes > Syndactyly type 5

Syndactyly type 5

Synonyms
SYNDACTYLY WITH METACARPAL AND METATARSAL FUSION; Syndactyly with associated metacarpal and metatarsal fusion; Syndactyly, type V
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait. [from SNOMEDCT_US]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDE, BDSD, HOX4I, SPD, SPD1, HOXD13
    Summary: homeobox D13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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