Cartilage-hair hypoplasia [Supplementary Concept]

A hereditary autosomal recessive form of short-limbed DWARFISM due to osteochondrodysplasia. Affected individuals may also experience gastrointestinal abnormalities such as Hirschsprung Disease, immunologic deficiency, and increased susceptibility for LYMPHOMA and SKIN NEOPLASMS. Mutations in the RMRP gene have been identified. OMIM: 250250

Date introduced: August 25, 2010

MeSH Unique ID: C535916

Heading Mapped to:

• Primary Immunodeficiency Diseases
• Hair/abnormalities
• Hirschsprung Disease
• Osteochondrodysplasias/congenital

Entry Terms:

• McKusick Metaphyseal Chondrodysplasia Syndrome
• Metaphyseal Chondrodysplasia, Recessive Type
• Metaphyseal chondrodysplasia, McKusick type
• Cartilage Hair Syndrome

Previous Indexing:

• IMMUNOLOGIC DEFICIENCY SYNDROMES (2014-2019)