costello syndrome


Summary: 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).

Top Publications

  1. Quelin C, Loget P, Rozel C, D Hervé D, Fradin M, Demurger F, et al. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. Eur J Med Genet. 2017;60:395-398 pubmed publisher
    b>Costello syndrome (CS) is a rare multiple congenital disorder caused by activating germline mutations in HRAS gene and is characterized by coarse facial features, severe feeding difficulties, failure to thrive, mild to severe ..
  2. Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, et al. Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet. 2017;25:823-831 pubmed publisher
    ..of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants)...