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bilateral radial agenesis


Wednesday 6 April 2005

Etiology (Exemples)

- X-linked radial aplasia
- VATER association (VACTERL association)
- Pallister-Hall syndrome
- Cateye syndrome
- Duane anomaly and thenar hypoplasia or Duane-radial ray syndrome or Okihiro syndrome (MIM.607323) (SALL4 mutations)
- Fanconi disease (Fanconi syndrome or Fanconi anemia)
- 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)
- X-linked radial ray deficiency (MIM.300378)
- 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)
- TAR syndrome (thrombocytopenia-absent-radius syndrome (17847015)


- cleft lip/palate (MIM.179400)
-  renal anomalies (6829604)

Case records

- Case 10516: Sirenomelia with upper limb anomalies

See also

- radial ray aplasia