Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause costello syndrome. costello syndrome shows early phenotypic overlap with other disorders that involve map kinase signaling system (e.g., noonan syndrome and cardiofaciocutaneous syndrome).



We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.