GTR Home > Conditions/Phenotypes > Acheiropodia

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 GTR]

Available tests

4 tests are in the database for this condition.

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Genes See tests for all associated and related genes

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

Clinical features

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