Terminology Service for NFDI4Health
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Craniofacial Dysostosis

Go to external page http://purl.obolibrary.org/obo/NCIT_C84653

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. [ ]

Term info

Label

Craniofacial Dysostosis

Synonyms
  • Craniofacial Dysostosis
  • Crouzon Syndrome
Subsets

NCIT_C90259, NCIT_C99147

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C107377

NICHD Hierarchy Term

Craniofacial Dysostosis

Preferred Name

Craniofacial Dysostosis

Semantic Type

Disease or Syndrome

UMLS CUI

C0010273

code

C84653