Jeune syndrome

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

Also Known As:

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

Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Osteochondrodysplasias: 604
      - Ellis-Van Creveld Syndrome: 27
        Jeune syndrome: 57
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Ectodermal Dysplasia: 512
      - Ellis-Van Creveld Syndrome: 27
        Jeune syndrome: 57
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 512
      - Ellis-Van Creveld Syndrome: 27
        Jeune syndrome: 57
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Ectodermal Dysplasia: 512
      - Ellis-Van Creveld Syndrome: 27
        Jeune syndrome: 57
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 512
      - Ellis-Van Creveld Syndrome: 27
        Jeune syndrome: 57
  - Genetic Skin Diseases: 51
    - Ectodermal Dysplasia: 512
      - Ellis-Van Creveld Syndrome: 27
        Jeune syndrome: 57

Thérèse Reboul Selected Research

Thérèse Reboul Research Topics

Disease

Drug/Important Bio-Agent (IBA)