Acheiropodia (ACHP), also known as Horn-Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is an autosomalrecessive disorder that results in hemimelia, a lack of formation of the distal extremities.
Acheiropodia has an autosomal recessive pattern of inheritance.
ACHP has been associated with a mutation in the LMBR1 gene. The disorder is inherited in an autosomal recessive manner. 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.
^Freire-Maia, A; Opitz, John M. (1981). "Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia". American journal of medical genetics9 (1): 31–41. doi:10.1002/ajmg.1320090108. PMID7018242.