Fuhrmann syndrome

The Fuhrmann syndrome describes a combination of curved femora, aplasia or hypoplasia of the fibulae and oligo-, poly- and syndactyly. In addition, a hypoplastic pelvis and a hypoplasia of the fingernails and toenails were found in some of the eleven previously described patients.

Other symptoms seen in those affected include missing tarsal bones and toes and congenital hip dislocation.

The cause of the syndrome is the loss of function of the WNT7A protein.