Cartilage-hair hypoplasia

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Disease Overview

Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. People with this condition are also at an increased risk of developing cancer, particularly blood, skin, and immune system cancers. Gastrointestinal problems are also common. Cartilage-hair hypoplasia is caused by mutations in the RMRP gene and is inherited in an autosomal recessive fashion.[3654]


Synonyms

  • Metaphyseal chondrodysplasia McKusick type
  • CHH
  • Cartilage hair hypoplasia like syndrome

For more information, visit GARD.

National Organization for Rare Disorders