Conditions / Genetic
Antley-Bixler syndrome without disordered steroidogenesis
info · Genetic
An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.
Signs and symptoms
- Long philtrum
- Femoral bowing
- Lambdoidal craniosynostosis
- Wide anterior fontanel
- Flexion contracture
- Narrow pelvis bone
- Upper airway obstruction
- Ulnar bowing
- Coronal craniosynostosis
- Fused labia minora