Crouzon syndrome

Preferred Label : Crouzon syndrome;

CISMeF acronym : CFD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Crouzon craniofacial dysostosis; CFD1; Craniofacial dysostosis, type I;

Description : Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2, 176943.0001);

Prefixed ID : #123500;

Details

Origin ID

123500;

UMLS CUI

C2931196;

Automatic exact mappings (from CISMeF team)
- FGFR2 wt Allele [NCIt concept]
- fibroblast growth factor receptor 2 [ORDO Gene]
- fibroblast growth factor receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Craniofacial Dysostosis [NCIt concept]
- Craniofacial dysostosis [ICD-10 Sub-category]
- Craniofacial dysostosis [MedDRA Preferred Term]
- Craniofacial dysostosis [HPO term]
- Craniofacial dysostosis [ICD-10 Sub-category (who)]
- Crouzon disease [PASCAL descriptor]
- Crouzon disease [ICD-11 Sub-sub category]
- Crouzon syndrome [Disease (Nov.)]
- Crouzon syndrome [DO Concept]
- Crouzon syndrome [ORDO Disease]
- Crouzon syndrome (disorder) [SNOMED CT concept]
- Crouzon's disease [MedDRA LLT]
- craniofacial dysostosis [MeSH Descriptor]
- craniofacial dysostosis [MeSH concept]
- crouzon disease [MeSH concept]
- crouzon syndrome [SNOMED Notion]
DO Cross reference
- Crouzon syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- Abnormal nasopharynx morphology [HPO term]
- Abnormality of the cervical spine [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Conductive hearing impairment [HPO term]
- Conjunctivitis [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniofacial dysostosis [HPO term]
- Craniosynostosis (coronal, sagittal, lambdoid sutures) [HPO term]
- Dental crowding [HPO term]
- Dysgerminoma [HPO term]
- Frontal bossing [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Mandibular prognathia [HPO term]
- Optic atrophy [HPO term]
- Proptosis [HPO term]
- Sagittal craniosynostosis [HPO term]
- Seizure [HPO term]
- Shallow orbits [HPO term]
- Sleep apnea [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Crouzon syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- crouzon disease [MeSH concept]

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