Acheiropodia Mutation
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Acheiropodia (ACHP) is an autosomal-
recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
disorder that results in hemimelia, a lack of formation of the distal extremities. This is a congenital defect that consists of bilateral
amputation Amputation is the removal of a limb by trauma, medical illness, or surgery. As a surgical measure, it is used to control pain or a disease process in the affected limb, such as malignancy or gangrene. In some cases, it is carried out on indi ...
s of the distal upper and lower extremities, as well as aplasia of the
hand A hand is a prehensile, multi-fingered appendage located at the end of the forearm or forelimb of primates such as humans, chimpanzees, monkeys, and lemurs. A few other vertebrates such as the koala (which has two opposable thumbs on each "h ...
s and feet. It was first discovered and is prevalent almost exclusively in Brazil.


Genetics

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 An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...
, and two copies of the defective gene (one inherited from each parent) are required 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


External links


Overview
at Orphanet
PDF of Am. J. of Human Genetics article
Congenital disorders of musculoskeletal system Autosomal recessive disorders Rare diseases Congenital amputations Syndromes {{genetic-disorder-stub