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Cheirospondyloenchondromatosis

Disease definition

Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.

ORPHA:99647

Classification level: Disorder
  • Synonym(s):
    • Generalized enchondromatosis with platyspondyly
  • Prevalence: <1 / 1 000 000
  • Inheritance: No data available 
  • Age of onset: Neonatal, Infancy
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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