acheiropody
MONDO:0008700
Acheiropodia is 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.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Acheiropodia
Acheiropodia, also known as Horn Kolb syndrome, is a genetic condition that affects limb development, resulting in shortened arms and legs and absent hands and feet on both sides of the body at birth. Specifically, individuals are born missing the epiphysis typically found at the end of the humerus bone of the upper arm, the diaphysis which makes up the long section of the tibia bone of the shin, the radius and ulna bones which make up the lower arm, the fibula bone of the shin, and all hand and foot bones. It was first discovered and is prevalent almost exclusively in Brazil.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.