loading...| Preferred Name |
Craniofacial Dysostosis |
|
| Synonyms |
Crouzon Syndrome Craniofacial Dysostosis |
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| Definitions |
A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84653 |
|
| code |
C84653 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
|
| DEFINITION |
A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. |
|
| FULL_SYN |
Crouzon Syndrome Craniofacial Dysostosis |
|
| label |
Craniofacial Dysostosis |
|
| Preferred_Name |
Craniofacial Dysostosis |
|
| prefixIRI |
Thesaurus:C84653 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0010273 |
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| subClassOf |