Costello syndrome (faciocutaneoskeletal syndrome)
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Epidemiology
rare
Genetics
associated with defects in HRAS
Clinical manifestations
- prenatally increased growth
- postnatal growth deficiency
- mental retardation
- distinctive facial appearance
- cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy &/or atrial tachycardia)
- tumor predisposition
- skin abnormalities
- musculoskeletal abnormalities