loading...| Preferred Name |
Jeune syndrome |
| Synonyms |
Thoracic-Pelvic-Phalangeal Dystrophy |
| ID |
http://purl.bioontology.org/ontology/MESH/C537571 |
| altLabel |
Thoracic-Pelvic-Phalangeal Dystrophy Jeune Thoracic Dystrophy Infantile thoracic dystrophy Asphyxiating thoracic dystrophy Asphyxiating Thoracic Dysplasia Asphyxiating Thoracic Dystrophy 1 Thoracic pelvic phalangeal dystrophy Asphyxiating Thoracic Chondrodystrophy Jeune Thoracic Dysplasia Asphyxiating Thoracic Dystrophy (ATD) Chondroectodermal dysplasia-like syndrome Thoracic Asphyxiant Dystrophy Jeune's syndrome |
| cui |
C4551856 C0265275 |
| HM |
D004613 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
72 |
| MMR |
20190401 |
| notation |
C537571 |
| prefLabel |
Jeune syndrome |
| SC |
3 |
| Scope Statement |
A group of hereditary autosomal recessive skeletal ciliopathies (Ellis-van Creveld syndrome, Jeune syndrome, short rib-polydactyly syndrome, and Mainzer-Saldino syndrome) that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the roof of the ACETABULUM. POLYDACTYLY is variably present, and there is phenotypic overlap in the various forms, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs, brain, and genitalia. Severity ranges from neonatal lethality to mild adult disability. OMIM: 208500 |
| TERMUI |
T743033 T800869 T743028 T840933 T743032 T844816 T743031 T840930 T800867 T840931 T840935 T743030 T743029 T840934 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 T047 |