Acheiropody
Acheiropodia
Overview
Type of disease: Rare conditions
Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the bones of the hands and feet. The condition appears to affect only the extremities, with no other signs and symptoms reported. It is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner. Walking may be possible for individuals with acheiropody with well-fitted prostheses. With the exception of a couple of affected individuals in Puerto Rico, all other reported cases have occurred in Brazil. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Medical Resources
- Genetic & Rare Diseases Information Center (GARD) GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
- Children’s Alopecia Project, Inc. General Support Organization
- Retina UK General Support Organization
- PID UK General Support Organization