loading...| Preferred Name |
Jeune syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_474 |
| alternative_term |
JATD Jeune asphyxiating thoracic dystrophy Asphyxiating thoracic dystrophy of the newborn |
| definition |
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
ICD-11:LD24.B1 OMIM:616300 OMIM:617088 OMIM:615630 OMIM:208500 MeSH:C537571 ICD-10:Q77.2 OMIM:613819 UMLS:C0265275 OMIM:614376 MedDRA:10057621 OMIM:619479 OMIM:611263 OMIM:615633 OMIM:613091 |
| label |
Jeune syndrome |
| notation |
ORPHA:474 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_156165 http://www.orpha.net/ORDO/Orphanet_93603 http://www.orpha.net/ORDO/Orphanet_1505 http://www.orpha.net/ORDO/Orphanet_506213 |
| prefixIRI |
ORDO:Orphanet_474 |
| prefLabel |
Jeune syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 0.89 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_156165 http://www.orpha.net/ORDO/Orphanet_93603 http://www.orpha.net/ORDO/Orphanet_1505 http://www.orpha.net/ORDO/Orphanet_506213 |
| subClassOf |