Conditions / Genetic
Pfeiffer syndrome
info · Genetic
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
Signs and symptoms
- Tracheal cartilaginous sleeve
- Brachyturricephaly
- Strabismus
- Short middle phalanx of toe
- Bronchomalacia
- Short nose
- Coronal craniosynostosis
- Elbow ankylosis
- Broad hallux
- Shortening of all middle phalanges of the fingers
Also known as: acrocephalosyndactylia type V