Costello syndrome
Costello syndrome
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.
Also known as congenital myopathy with excess of muscle spindles, Costello syndrome, faciocutaneoskeletal syndrome, FCS syndrome — per MONDO