Fuhrmann syndrome

A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7

A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.

Signs and symptoms

• Femoral bowing
• Aplasia/Hypoplasia of the fibula
• Aplasia/Hypoplasia of the ulna
• Radial bowing
• Hypoplasia of the radius
• Congenital hip dislocation
• Toe syndactyly
• Short stature
• Finger aplasia
• Foot oligodactyly