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radial ray defects

Monday 12 December 2005


- radial agenesis (radial aplasia)
- radial hypoplasia
- preaxial polydactyly
- anomalies of thumbs

  • triphalangeal thumbs
  • supernumerary thumbs
  • broad thumb
  • bifid thumb


- omphalocele (2359107)
- diaphragmatic hernia (2359107)
- hepatic cyst (2359107)


- isolated radial agenesis
- X-linked radial agenesis (X-linked radial ray deficiency) (MIM.300378)

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

- 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 10516: Sirenomelia with bilateral radial ray anomalies

See also

- limb malformations (limb anomalies)