Costello syndrome: an overview

Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):42-8. doi: 10.1002/ajmg.c.10019.


The Costello syndrome is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive cardiomyopathy, developmental delay, and a outgoing, friendly behavior. Patients can develop papillomata, especially around the mouth, and have a predisposition for malignancies (mainly abdominal and pelvic rhabdomyosarcoma in childhood). Costello syndrome is likely to be an autosomal dominant disorder. The pathogenesis is unclear, but there are many clues for a disturbed elastogenesis, possibly through a disturbed elastin-binding protein reuse by chondroitin sulfate-bearing proteoglycans accumulation. A review of the findings in the 73 patients that have been described in sufficient detail is provided.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics
  • Child
  • Face / abnormalities
  • Female
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics
  • Humans
  • Incidence
  • Male
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / genetics
  • Syndrome