Jeune syndrome [Supplementary Concept]
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
Date introduced: August 25, 2010
MeSH Unique ID: C537571
Heading Mapped to:
Entry Terms:
- Asphyxiating thoracic dystrophy
- Infantile thoracic dystrophy
- Thoracic pelvic phalangeal dystrophy
- Jeune's syndrome
- Thoracic Asphyxiant Dystrophy
- Thoracic-Pelvic-Phalangeal Dystrophy
- Asphyxiating Thoracic Chondrodystrophy
- Asphyxiating Thoracic Dysplasia
- Jeune Thoracic Dysplasia
- Jeune Thoracic Dystrophy
- Asphyxiating Thoracic Dystrophy (ATD)
- Chondroectodermal dysplasia-like syndrome
- Asphyxiating Thoracic Dystrophy 1