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Costello syndrome

Disease definition

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.


  • 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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