Conditions / Genetic
Carpenter syndrome 1
info · Genetic
A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11.
Signs and symptoms
- Epicanthus
- Opacification of the corneal stroma
- Toe syndactyly
- Short stature
- Lambdoidal craniosynostosis
- Sagittal craniosynostosis
- Microcornea
- Coronal craniosynostosis
- Duplication of the proximal phalanx of the hallux
- Lateral displacement of patellae