Cenani Lenz syndactylism
Cenani Lenz syndactylism (pronunciation: se-na-ni lenz sin-dak-til-izm) is a rare genetic disorder characterized by the complete or partial fusion of fingers and/or toes, a condition known as syndactyly. The disorder is named after the Turkish pediatrician, A. Cenani, and the German pediatrician, W. Lenz, who first described the condition in 1967.
Etymology
The term "Cenani Lenz syndactylism" is derived from the names of the two doctors who first described the condition, A. Cenani and W. Lenz. The term "syndactylism" comes from the Greek words "syn" meaning "together" and "daktylos" meaning "finger".
Symptoms
The primary symptom of Cenani Lenz syndactylism is the fusion of fingers and/or toes. This can range from a simple fusion of the skin between the digits (known as cutaneous syndactyly) to a more complex fusion involving the bones, nerves, and blood vessels (known as complex syndactyly). Other symptoms may include short stature, facial abnormalities, and intellectual disability.
Causes
Cenani Lenz syndactylism is caused by mutations in the LRP4 gene. This gene provides instructions for making a protein that is involved in the formation of the limbs during embryonic development. Mutations in the LRP4 gene disrupt this process, leading to the fusion of the digits.
Diagnosis
Diagnosis of Cenani Lenz syndactyly is based on a physical examination of the hands and feet. Genetic testing can confirm the diagnosis by identifying mutations in the LRP4 gene.
Treatment
Treatment for Cenani Lenz syndactylism primarily involves surgical separation of the fused digits. Physical and occupational therapy may also be beneficial for improving hand and foot function.
See also
External links
- Medical encyclopedia article on Cenani Lenz syndactylism
- Wikipedia's article - Cenani Lenz syndactylism
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