MeSH Browser

MeSH Supplementary: Jeune syndrome
Unique ID: C537571
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537571
Entry Term(s): Asphyxiating Thoracic Chondrodystrophy; Asphyxiating Thoracic Dysplasia; Asphyxiating Thoracic Dystrophy (ATD); Asphyxiating Thoracic Dystrophy 1; Asphyxiating thoracic dystrophy; Chondroectodermal dysplasia-like syndrome; Infantile thoracic dystrophy; Jeune Thoracic Dysplasia; Jeune Thoracic Dystrophy; Jeune's syndrome; Thoracic Asphyxiant Dystrophy; Thoracic pelvic phalangeal dystrophy; Thoracic-Pelvic-Phalangeal Dystrophy
Heading Mapped to: *Ellis-Van Creveld Syndrome
Frequency: 72
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/04/01

Jeune syndrome MeSH Supplementary Concept Data 2024