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Cartilage-hair hypoplasia

Disease definition

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

ORPHA:175

  • Synonym(s):
    • Autosomal recessive metaphyseal chondrodysplasia
    • Metaphyseal chondrodysplasia, McKusick type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.8
  • OMIM: 250250  250460
  • UMLS: C0220748
  • MeSH: C535916
  • GARD: 6996
  • MedDRA: 10069596

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