Short Rib-Polydactyly Syndrome

A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.

Also Known As:

Asphyxiating Thoracic Dystrophy 3; Polydactyly With Neonatal Chondrodystrophy, Type I; Polydactyly With Neonatal Chondrodystrophy, Type II; Polydactyly with Neonatal Chondrodystrophy, Type 1; Polydactyly with Neonatal Chondrodystrophy, Type 2; Short Rib-Polydactyly Syndrome Type 1; Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Short Rib-Polydactyly Syndrome, Type I; Short Rib-Polydactyly Syndrome, Type II; Saldino Noonan Syndrome; Short Rib Polydactyly Syndrome; Short Rib Polydactyly Syndrome Type 1; Short Rib Polydactyly Syndrome, Majewski Type; Short Rib Polydactyly Syndrome, Saldino Noonan Type; Short Rib Polydactyly Syndrome, Type I; Short Rib Polydactyly Syndrome, Type II; Short Rib-Polydactyly Syndromes; Majewski Syndrome; Saldino-Noonan Syndrome

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Short Rib-Polydactyly Syndrome: 12
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Polydactyly: 308
      - Short Rib-Polydactyly Syndrome: 12
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Short Rib-Polydactyly Syndrome: 12
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Polydactyly: 308
        Short Rib-Polydactyly Syndrome: 12

Beemer type Short rib-polydactyly syndrome

Disease Context: Research Results