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

16 clinical trials for this condition and its sub-types, 7 tagged with Costello syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal dominant disease (699) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Noonan syndrome and Noonan-related syndrome (29)

Including sub-types (16) Tagged with Costello syndrome (7)

Trials to join now! 3 Not yet recruiting 2 Not yet finished but already full! 1 Terminated 1

Costello syndrome

Where it sits in the disease tree

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