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Costello syndrome

Thursday 6 October 2005

Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors.

Synopsis

- coarse face
- loose skin

- cardiovascular anomalies (63%) (12210337)

  • cardiovascular malformation (CVM) (30%)
    • pulmonic stenosis (46% of CVM)
  • rhythm disturbances (33%) (12210337)
    • atrial tachycardia (74%)

- tumoral predisposition (16010679)

Etiology

- germline mutations in Costello syndrome (16170316)

  • germline mutations in HRAS perturb human development and increase susceptibility to tumors.

References

- Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer. 2007 Apr;7(4):295-308. PMID: 17384584

- Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet. 2005 Oct;37(10):1038-40. PMID: 16170316

- Gripp KW. Tumor predisposition in Costello syndrome. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137(1):72-7. PMID: 16010679

- Hennekam RC. Costello syndrome: an overview. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117(1):42-8. PMID: 12561057