multiple synostoses syndrome 2

A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_b

A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.

Signs and symptoms

• Brachydactyly
• Vertebral fusion
• Humeroradial synostosis
• Finger symphalangism
• Tarsal synostosis
• Carpal synostosis
• Proximal symphalangism
• Wide nose
• Talipes equinovarus