📂 Diseases
acromesomelic dysplasia 4 — Definition
akromezomelik displazi tip 4 / acromesomelic dysplasia 4
Akromezomelic dysplasia type 4 is a rare genetic skeleton dysplasia that affects the parts of the middle (arm and leg) with dystal (el and foot). The disease is characterized by shortness and deformities in short size, hand and foot fingers. Autozomal indicates resessive inheritance and is usually caused by mutations in PRKAR1A gene. Clinical findings include joint stiffness, facial dysmorphism and cardiac anomalies in some cases.
Frequently Asked Questions
❓ What is akromezomelik displazi tip 4?
akromezomelik displazi tip 4; akromezomelic dysplasia type 4 is a rare genetic skeleton dysplasia that affects the parts of the middle (arm and leg) with dystal (el and foot). The disease is characterized by shortness and deformities in short size, hand and foot fingers. Autozomal indicates resessive inheritance and is usually caused by mutations in PRKAR1A gene. Clinical findings include joint stiffness, facial dysmorphism and cardiac anomalies in some cases.
❓ What is acromesomelic dysplasia 4 in Turkish?
The Turkish equivalent of "acromesomelic dysplasia 4" is akromezomelik displazi tip 4.
❓ Which medical field is akromezomelik displazi tip 4 related to?
This term belongs to the Diseases category.