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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
  • ICD-11: FB82.Y
  • OMIM: -
  • UMLS: C4304745
  • MeSH: -
  • GARD: 3399
  • MedDRA: -

  A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014) Deutsch (2005)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.