loading...| Preferred Name |
Beare-Stevenson Cutis Gyrata Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123813 |
| code |
C123813 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles. |
| FULL_SYN |
Beare-Stevenson Cutis Gyrata Syndrome |
| label |
Beare-Stevenson Cutis Gyrata Syndrome |
| Preferred_Name |
Beare-Stevenson Cutis Gyrata Syndrome |
| prefixIRI |
Thesaurus:C123813 |
| prefLabel |
Beare-Stevenson Cutis Gyrata Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C1852406 |
| subClassOf |