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Costello syndrome
rareCostello 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.
- Identifiers
- MONDO:0009026 OMIM:218040Orphanet:3071
- Causal genes
- HRAS
- Part of
- Noonan syndrome and Noonan-related syndromeAutosomal dominant diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- congenital myopathy with excess of muscle spindles · CSTLO · faciocutaneoskeletal syndrome · FCS syndrome
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