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
Overviewat
Orphanet
PDF of Am. J. of Human Genetics article
Congenital disorders of musculoskeletal system
Autosomal recessive disorders
Rare diseases
Congenital amputations
Syndromes
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