Conditions / Syndrome
Ritscher-Schinzel syndrome 2
info · Syndrome
A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11.
Signs and symptoms
- Poor speech
- Upslanted palpebral fissure
- Prominent fingertip pads
- Wide anterior fontanel
- Camptodactyly of finger
- Protruding tongue
- Hypotonia
- Low posterior hairline
- Relative macrocephaly
- Broad hallux