bent bone dysplasia syndrome 1

A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in

A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.

Signs and symptoms

• Decreased calvarial ossification
• Hypoplastic pubic bone
• Abnormally large globe
• Bent long bone
• Hypertelorism
• Clitoral hypertrophy
• Short clavicles
• Hirsutism
• Coronal craniosynostosis
• Brachydactyly