chromosome 2q31.1 duplication syndrome

A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region.

Signs and symptoms

• 3-4 finger cutaneous syndactyly
• Short stature
• Pendular nystagmus
• Triphalangeal thumb
• Talipes equinovarus
• Absent thumb
• Short thumb