Number of the records: 1
Costellov syndróm
Record number d056685 Date 06.06.2025 Type M - MESH Topical term Costellov syndróm Other term English (Pseudonym) Faciocutaneoskeletal Syndrome
See also (Later heading) Noonanovej syndróm
(Later heading) gény ras
(Later heading) proteíny protoonkogénové p21(ras)
(Skutočné meno) Noonanovej syndróm
(Skutočné meno) gény ras
(Skutočné meno) proteíny protoonkogénové p21(ras)
UDC C05.660.207.219C16.131.077.256C16.320.188 Note 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). 
subject heading
Number of the records: 1