loading...| Preferred Name |
Moebius syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_570 |
| alternative_term |
Möbius syndrome |
| definition |
A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-10:Q87.0 OMIM:157900 UMLS:C0221060 MeSH:D020331 MedDRA:10030069 ICD-11:LD2F.1Y |
| label |
Moebius syndrome |
| notation |
ORPHA:570 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_98683 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_156224 http://www.orpha.net/ORDO/Orphanet_98518 |
| prefixIRI |
ORDO:Orphanet_570 |
| prefLabel |
Moebius syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Worldwide AND has_cases/families_value : 300.0 (Case) Italy AND has_birth_prevalence_average_value : 0.06 AND has_birth_prevalence_range : <1 / 1 000 000 Italy AND has_point_prevalence_average_value : 0.27 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 2.12 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_98683 http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_156224 http://www.orpha.net/ORDO/Orphanet_98518 |
| subClassOf |