radial ray aplasia
DA:791
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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
See also
limb malformations