multiple synostoses syndrome 1

A multiple synostoses syndrome 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_i

A multiple synostoses syndrome 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 NOG gene on chromosome 17q22.

Signs and symptoms

• Hypermetropia
• Thin upper lip vermilion
• Wide nasal bridge
• Lower limb undergrowth
• Short foot
• Progressive conductive hearing impairment
• Single transverse palmar crease
• Radial deviation of finger
• Short sternum
• Finger symphalangism