Conditions / Genetic
Saethre-Chotzen syndrome
info · Genetic
An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
Signs and symptoms
- Craniosynostosis
- Downslanted palpebral fissures
- Duplication of the distal phalanx of the hallux
- Broad hallux
- Hallux valgus
- Bilateral ptosis
- Toe syndactyly
- Hearing impairment
- Strabismus
- Moderate intellectual disability