Acheiropodia
Encyclopedia
Acheiropodia also known as Horn-Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is an autosomal
recessive disorder that results in hemimelia
, a lack of formation of the distal extremities.
This is a congenital defect which consists of bilateral amputation
s of the distal upper and lower extremities, as well as aplasia
of the hand
s and feet. It was first discovered and is prevalent almost exclusively in Brazil
.
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.
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
recessive disorder that results in hemimelia
Hemimelia
Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete lack thereof. In humans, the disorder can be noted by ultrasound...
, a lack of formation of the distal extremities.
This is a congenital defect which consists of bilateral amputation
Amputation
Amputation is the removal of a body extremity by trauma, prolonged constriction, 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 individuals as a preventative surgery for...
s of the distal upper and lower extremities, as well as aplasia
Aplasia
Aplasia is defined in general as "defective development or congenital absence of an organ or tissue." In the field of hematology, the term refers to "incomplete, retarded, or defective development, or cessation of the usual regenerative process."-Examples:*Acquired pure red cell aplasia*Aplasia...
of the hand
Hand
A hand is a prehensile, multi-fingered extremity located at the end of an arm or forelimb of primates such as humans, chimpanzees, monkeys, and lemurs...
s and feet. It was first discovered and is prevalent almost exclusively in Brazil
Brazil
Brazil , officially the Federative Republic of Brazil , is the largest country in South America. It is the world's fifth largest country, both by geographical area and by population with over 192 million people...
.
Genetics
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
in the LMBR1
LMBR1
Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.-Further reading:...
gene. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
, 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
Genetic carrier
A genetic carrier , is a person or other organism that has inherited a genetic trait or mutation, but who does not display that trait or show symptoms of the disease. They are, however, able to pass the gene onto their offspring, who may then express the gene...
one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
External links
- Overview at OrphanetOrphanetOrphanet is a European website providing information about orphan drugs and rare diseases. It contains content both for physicians and for patients. Its administrative office is in Paris. The organisation also publishes the open-access online journal Orphanet Journal of Rare Diseases.-External...
- CTD's Acheiropodia page from the Comparative Toxicogenomics DatabaseComparative Toxicogenomics DatabaseThe Comparative Toxicogenomics Database is a public website and research tool that curates scientific data describing relationships between chemicals, genes, and human diseases....
- http://acronyms.thefreedictionary.com/acheiropody
- PDF of Am. J. of Human Genetics article