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📋Overview
Cartilage-Hair Hypoplasia, also known as metaphyseal chondrodysplasia, McKusick type, is a rare genetic skeletal dysplasia caused by mutations in the RMRP gene. This condition primarily affects bone growth and may impact the development of hair and the immune system.
The disorder is characterized by short-limbed stature and often involves fine or sparse hair. Individuals can also exhibit varying degrees of immune system abnormalities, as the genetic mutation affects multiple cellular processes.
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