Acheiropodia (ACHP) is an
autosomal
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 allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...
-
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
Hemimelia comprises the following:
* Fibular hemimelia, Congenital longitudinal deficiency of the fibula or fibular longitudinal meromelia
* Tibial hemimelia, Congenital longitudinal deficiency of the tibia, Congenital aplasia and dysplasia of t ...
, a lack of formation of the distal extremities.
This is a
congenital defect
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can r ...
that consists of bilateral
amputations of the distal upper and lower extremities, as well as
aplasia
Aplasia (; from Greek ''a'', "not", "no" + ''plasis'', "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process.
Aplastic anemia is the failure of the body to produc ...
of the
hands and feet. It was first discovered and is prevalent almost exclusively in
Brazil
Brazil ( pt, Brasil; ), officially the Federative Republic of Brazil (Portuguese: ), is the largest country in both South America and Latin America. At and with over 217 million people, Brazil is the world's fifth-largest country by area ...
.
Genetics
ACHP has been associated with a
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA replication, DNA or viral repl ...
in the ''
LMBR1
Limb region 1 protein homolog is a protein that in humans is encoded by the ''LMBR1'' gene.
This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane ...
'' 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 to be born with the disorder. The parents of an individual with an autosomal recessive disorder both
carry
Carry or carrying may refer to:
People
*Carry (name)
Finance
* Carried interest (or carry), the share of profits in an investment fund paid to the fund manager
* Carry (investment), a financial term: the carry of an asset is the gain or cost of h ...
one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Diagnosis
References
External links
Overviewat
Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks
The website is managed by a network of academic establishments from 40 countries, led by Inserm.
It c ...
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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