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Lethal recessive chondrodysplasia

Disease definition

Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.

ORPHA:1423

Classification level: Disorder
  • Synonym(s):
    • Maroteaux-Stanescu-Cousin syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 3399
  • MedDRA: -
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