Conditions / Genetic

multiple synostoses syndrome 3

info ยท Genetic

A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_ba

A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12.

Signs and symptoms

  • Metatarsal synostosis
  • Cleft palate
  • Humeroradial synostosis
  • Limited interphalangeal movement
  • Cubitus valgus
  • Metacarpal synostosis
  • Cutaneous syndactyly of toes
  • Hallux varus
  • Broad thumb
  • Broad hallux