loading...| Preferred Name |
Oculo-auriculo-vertebral spectrum |
|
| Synonyms |
OAV spectrum |
|
| Definitions |
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_141132 |
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| alternative_term |
OAV spectrum Oculoauriculovertebral spectrum |
|
| definition |
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Not applicable |
|
| hasDbXref |
ICD-10:Q87.0 MedDRA:10051934 ICD-11:LD2F.16 |
|
| label |
Oculo-auriculo-vertebral spectrum |
|
| notation |
ORPHA:141132 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_183576 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_330206 |
|
| prefixIRI |
ORDO:Orphanet_141132 |
|
| prefLabel |
Oculo-auriculo-vertebral spectrum |
|
| present_in |
Japan AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_139036 http://www.orpha.net/ORDO/Orphanet_183576 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_330206 |
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| subClassOf |