loading...| Preferred Name |
Craniosynostosis |
|
| Synonyms |
|
|
| Definitions |
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. |
|
| 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 |
Infancy Neonatal |
|
| has_inheritance |
Not applicable Autosomal recessive X-linked recessive Autosomal dominant Unknown |
|
| hasDbXref |
MedDRA:10049889 ICD-11:LB70.0 UMLS:C0010278 ICD-10:Q75.0 MeSH:D003398 |
|
| label |
Craniosynostosis |
|
| notation |
Category ORPHA:1531 |
|
| prefixIRI |
ORDO:Orphanet_1531 |
|
| prefLabel |
Craniosynostosis |
|
| present_in |
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 Australia AND has_birth_prevalence_average_value : 49.4 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 47.6 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_183542 http://www.orpha.net/ORDO/Orphanet_404568 http://www.orpha.net/ORDO/Orphanet_557492 |