Acheiropodia

Acheiropodia is a rare malformation syndrome that has so far only been discovered in Brazil.

The autosomal recessive inherited anomalies are characterized by bilateral amputation of the tibial diaphysis and distal humeral epiphysis, as well as aplasia of radius, ulna, hand and foot bone, and fiblua. Apart from these abnormalities, patients remain symptom free as far as possible.

The cause of the syndrome are mutations in the LMBR1 gene at locus 7q36.