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GTR Home > Conditions/Phenotypes > Terminal osseous dysplasia-pigmentary defects syndrome

Terminal osseous dysplasia-pigmentary defects syndrome

Synonyms
ODPD; ODPF SYNDROME; OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; Terminal osseous dysplasia
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010). [from OMIM]

Available tests

89 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (89 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, FLNA
    Summary: filamin A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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