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Costello syndrome

Disease definition

A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.

ORPHA:3071

Classification level: Disorder
  • Synonym(s):
    • FCS syndrome
    • Faciocutaneoskeletal syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 218040
  • UMLS: C0587248
  • MeSH: D056685
  • GARD: 1550
  • MedDRA: 10067380

Detailed information

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