Costello syndrome

MONDO:0009026

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.

Also known as: Costello syndrome, FCS syndrome, congenital myopathy with excess of muscle spindles, faciocutaneoskeletal syndrome, CSTLO, myopathy, congenital, with excess of muscle spindles

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