Conditions / Genetic
Greig cephalopolysyndactyly syndrome
info · Genetic
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
Signs and symptoms
- Keratoconus
- Omphalocele
- Brachydactyly
- Delayed speech and language development
- Cerebellar hypoplasia
- Atrial septal defect
- Preaxial foot polydactyly
- Broad thumb
- Syndactyly
- Broad hallux
Also known as: polysyndactyly with peculiars skull shape