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Cartilage-Hair Hypoplasia - Medical Condition Information

Cartilage-Hair Hypoplasia

CHH
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📋Overview

Cartilage-Hair Hypoplasia (CHH) is a rare inherited disorder characterized by short-limbed dwarfism, fine sparse hair, and immune system abnormalities. It is a genetic skeletal dysplasia caused by mutations in the RMRP gene. CHH is also known as metaphyseal chondrodysplasia, McKusick type, a legacy term. The condition affects bone growth, hair development, and immune function.

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