MeSH Browser

MeSH Supplementary: Cartilage-hair hypoplasia
Unique ID: C535916
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535916
Entry Term(s): Cartilage Hair Syndrome; McKusick Metaphyseal Chondrodysplasia Syndrome; Metaphyseal Chondrodysplasia, Recessive Type; Metaphyseal chondrodysplasia, McKusick type
Registry Numbers: 0
Previous Indexing: IMMUNOLOGIC DEFICIENCY SYNDROMES (2014-2019)
Heading Mapped to: Hair / abnormalities; *Hirschsprung Disease; Osteochondrodysplasias / congenital; *Primary Immunodeficiency Diseases
Frequency: 65
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/06/17

Cartilage-hair hypoplasia MeSH Supplementary Concept Data 2025