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Acheiropodia
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| Acheiropodia | |
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| Other names | Horn-Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type) |
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| Acheiropodia has an autosomal recessive pattern of inheritance | |
Acheiropodia (ACHP), is an autosomal recessive[1] disorder that results in hemimelia, a lack of formation of the distal extremities.
This is a congenital defect which consists of bilateral amputations of the distal upper and lower extremities, as well as aplasia of the hands and feet. It was first discovered and is prevalent almost exclusively in Brazil.[2]
Genetics
ACHP has been associated with a mutation in the LMBR1 gene.[3] The disorder is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Diagnosis
References
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