Cartilage-hair hypoplasia

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

Also Known As:

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Digestive System Abnormalities
    - Hirschsprung Disease: 1458
      - Cartilage-hair hypoplasia: 78
- Inborn Genetic Diseases: 11939
  - Primary Immunodeficiency Diseases: 1189
    - Cartilage-hair hypoplasia: 78
  - Osteochondrodysplasias: 592
    - Cartilage-hair hypoplasia: 78
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Cartilage-hair hypoplasia: 78
Integumentary System
- Hair
  - Cartilage-hair hypoplasia: 78
Digestive System Diseases: 1042
- Gastrointestinal Diseases: 5874
  - Intestinal Diseases: 1601
    - Colonic Diseases: 359
      - Megacolon: 321
        Hirschsprung Disease: 1458
        Cartilage-hair hypoplasia: 78
- Digestive System Abnormalities
  - Hirschsprung Disease: 1458
    - Cartilage-hair hypoplasia: 78
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Cartilage-hair hypoplasia: 78

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