Home > F. Pathology by regions > Limbs > radial ray defects

radial ray defects

Monday 12 December 2005

Types

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

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

Associations

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

Types

- 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

  • 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 10516: Sirenomelia with bilateral radial ray anomalies

See also

- limb malformations (limb anomalies)

Portfolio

  • Radial agenesis with ectrodactyly
  • Radial agenesis with ectrodactyly
  • First metacarpal severe hypoplasia
  • First metacarpal severe hypoplasia
  • Omphalocele-radial ray aplasia association
  • Omphalocele-radial ray aplasia association
  • Omphalocele-radial ray aplasia association