loading...| Preferred Name | Beare-Stevenson Cutis Gyrata Syndrome | |
| Synonyms |
Beare-Stevenson Cutis Gyrata Syndrome |
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| Definitions |
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. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123813 |
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| code |
C123813 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| 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. |
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| FULL_SYN |
Beare-Stevenson Cutis Gyrata Syndrome |
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| label |
Beare-Stevenson Cutis Gyrata Syndrome |
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| Preferred_Name |
Beare-Stevenson Cutis Gyrata Syndrome |
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| prefixIRI |
Thesaurus:C123813 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1852406 |
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| subClassOf |