Acheiropodia

Orpha code: 931OMIM code: 200500

Definition

An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.

Disease data
Classification

Morphological anomaly

Synonyms
Acheiropody
ORPHA code
931
OMIM code
200500
ICD10 code
Q74.8
ICD11 code
LB9B

No additional description.

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