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X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Disease definition

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.


Classification level: Disorder
  • Synonym(s):
    • X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300863
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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