Fuhrmann syndrome

Last revised by Ammar Haouimi on 16 Mar 2021

Fuhrmann syndrome is a rare non-lethal genetic limb malformation syndrome characterized by 1,2:

  • hypoplasia of pelvis
  • bowing of femur bone
  • polydactyly
  • hypoplastic fibula
  • symmetrical fingernail deficiency 4
  • tooth anomalies 5
  • malformed thumbs 8

It is a syndrome in which there is a partial loss of the WNT7A gene identified 1,3.

Differential diagnosis

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