Conditions / Syndrome
Joubert syndrome with orofaciodigital defect
info · Syndrome
A Joubert syndrome that is characterized by orofaciodigital defect.
Signs and symptoms
- Molar tooth sign on MRI
- Preaxial foot polydactyly
- Toe syndactyly
- Postaxial hand polydactyly
- Epicanthus
- Hypotonia
- Generalized hypotonia
- Nystagmus
- Hypertelorism
- Radial deviation of finger
Also known as: OFD6; Polydactyly cleft lip palate psychomotor retardation; Varadi syndrome; Varadi-Papp syndrome; orofaciodigital syndrome VI