loading...| Preferred Name |
Craniosynostosis |
| ID |
http://www.orpha.net/ORDO/Orphanet_1531 |
| definition |
Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
X-linked recessive Autosomal recessive Unknown Not applicable Autosomal dominant |
| hasDbXref |
MedDRA:10049889 ICD-10:Q75.0 MeSH:D003398 ICD-11:LB70.0 MedDRA:10048907 UMLS:C0010278 |
| label |
Craniosynostosis |
| notation |
ORPHA:1531 Category |
| prefixIRI |
ORDO:Orphanet_1531 |
| prefLabel |
Craniosynostosis |
| present_in |
Australia AND has_birth_prevalence_average_value : 49.4 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown France AND has_birth_prevalence_average_value : 47.6 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 43.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 24.3 AND has_birth_prevalence_range : 1-5 / 10 000 |
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_183542 http://www.orpha.net/ORDO/Orphanet_98038 http://www.orpha.net/ORDO/Orphanet_364559 |