📂 Diseases
Acropectoral syndrome — Definition
Akropektoral sendrom / Acropectoral syndrome
Akropektoral syndrome is a rare genetic disease in the region of chest cage (pektoral) with abnormalities (acral) in the hands and foot fingers. This syndrome is often characterized by symptoms such as absence of meme glands or less advanced, sternum (göğüs bone) deformities and sinmintili (structured) or brachymintili (shortness). The disease manifests autozomal dominant inheritance and is associated with mutations in TBX3 gene. The clinical picture may vary between individuals and the diagnosis is usually subject to physical examination and genetic tests.
Frequently Asked Questions
❓ What is Akropektoral sendrom?
Akropektoral sendrom; akropektoral syndrome is a rare genetic disease in the region of chest cage (pektoral) with abnormalities (acral) in the hands and foot fingers. This syndrome is often characterized by symptoms such as absence of meme glands or less advanced, sternum (göğüs bone) deformities and sinmintili (structured) or brachymintili (shortness). The disease manifests autozomal dominant inheritance and is associated with mutations in TBX3 gene. The clinical picture may vary between individuals and the diagnosis is usually subject to physical examination and genetic tests.
❓ What is Acropectoral syndrome in Turkish?
The Turkish equivalent of "Acropectoral syndrome" is Akropektoral sendrom.
❓ Which medical field is Akropektoral sendrom related to?
This term belongs to the Diseases category.