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GTR Home > Conditions/Phenotypes > Acheiropodia

Acheiropodia

Synonyms
Acheiropody; Acheiropody, Brazilian type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, TPTPS, ZRS, LMBR1
    Summary: limb development membrane protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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