Humpath.com - Human pathology - Photos - pictures - videos

radial ray aplasia

DA:791

Synopsis

- radial agenesis (radial aplasia)
- thumb agenesis

Associations: Syndromal types

- VATER association (VACTERL association)
- Fanconi disease (Fanconi syndrome or Fanconi anemia)
- Pallister-Hall syndrome
- Cateye syndrome
- Duane anomaly with thenar hypoplasia (Duane-radial ray syndrome or Okihiro syndrome) (MIM.607323) (SALL4 mutations)
- craniosynostosis with radial defects

  • Baller-Gerold syndrome (MIM.218600)
  • Saethre-Chotzen syndrome (SCS) (MIM.101400)

- hemifacial microsomia with radial defects (Goldenhar syndrome with radial defects) (MIM.141400)
- IVIC syndrome (oculootoradial syndrome) (MIM.147750)
- congenital posterior dislocation of radial heads (MIM.179200)
- radial apladia with cleft lip/palate (MIM.179400)
- X-linked dominant syndrome of radioulnar synostosis and radial ray abnormalities with severe malformations in the male and milder features in females (MIM.300233)
- radialrenal syndrome (MIM.179280)
- radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst association (Gershoni-Baruch syndrome) (MIM.609545) (HP.9455)
- omphalocele-radial ray aplasia association (ORR) (HP.12202)

Case records

- Case #14473

See also

- limb malformations