radial agenesis
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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
- 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)
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)
Association
cleft lip/palate (MIM.179400)
renal anomalies (6829604)
Case records
Case 10516: Sirenomelia with upper limb anomalies
See also