|
1 / 1
|
DeCS
|
|
 |
|
Descriptor Inglés:
|
|
Costello Syndrome
|
|
Descriptor Español:
|
|
Síndrome de Costello
|
|
Descriptor Portugués:
|
|
Síndrome de Costello
|
|
Sinónimos Inglés:
|
|
FCS Syndrome
FCS Syndromes
Faciocutaneoskeletal Syndromes
Syndrome, Costello
Syndrome, FCS
Syndrome, Faciocutaneoskeletal
Syndromes, FCS
Syndromes, Faciocutaneoskeletal
Faciocutaneoskeletal Syndrome
|
|
Categoría:
|
|
C05.660.207.219
C16.131.077.256
C16.320.185
|
|
Definición Inglés:
|
|
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). |
|
Relacionados Inglés:
|
|
Genes, ras
Noonan Syndrome
Proto-Oncogene Proteins p21(ras)
|
|
Nota Histórica Inglés:
|
|
2010
|
|
Calificadores Permitidos Inglés:
|
|
|
|
Número del Registro:
|
|
53495
|
|
Identificador Único:
|
|
D056685
|
Ocurrencia en la BVS:
|
|
|
Similar:
|
|
DeCS CID-10 LILACS
|