Acheiropodia
Acheiropodia
Acheiropodia (pronounced: ah-kai-ro-po-dee-ah) is a rare genetic disorder characterized by the absence of the distal extremities. The term is derived from the Greek words "acheir" meaning "without a hand", and "podia" meaning "without a foot".
Etymology
The term "Acheiropodia" is derived from the Greek words "acheir" (αχείρ), meaning "without a hand", and "podia" (ποδιά), meaning "without a foot". This name is descriptive of the primary physical characteristics observed in individuals affected by this disorder.
Definition
Acheiropodia is a rare autosomal recessive disorder, which results in the absence of the hands and feet, and the distal portion of the limbs. This condition is also known as Hand and Foot Absence or Lobster Claw Syndrome.
Symptoms
The primary symptom of Acheiropodia is the absence of the hands and feet. Individuals with this disorder may also have other physical abnormalities, such as the absence of the distal portions of the limbs, including the forearms and lower legs.
Causes
Acheiropodia is caused by mutations in the LMBR1 gene. This gene provides instructions for making a protein that is involved in the development of the limbs. Mutations in the LMBR1 gene disrupt the normal development of the limbs, leading to the physical abnormalities seen in Acheiropodia.
Treatment
There is currently no cure for Acheiropodia. Treatment is focused on managing the symptoms and improving the quality of life for individuals with this disorder. This may include the use of prosthetics and physical therapy.
Related Terms
- Autosomal Recessive: A type of inheritance pattern in which two copies of an abnormal gene must be present in order for the disease or trait to develop.
- LMBR1 gene: A gene that provides instructions for making a protein involved in the development of the limbs.
- Prosthetics: Artificial devices that replace a missing body part, which may be lost through trauma, disease, or a condition present at birth.
External links
- Medical encyclopedia article on Acheiropodia
- Wikipedia's article - Acheiropodia
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski