Fuhrmann syndrome

Disease Overview

Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of Fuhrmann syndrome are present from birth and may include bowing of the femurs (the upper bones of the legs), having no fibula (lower bone of the leg) or a smaller fibula than usual, and having more fingers or toes than normal (polydactyly) or fewer fingers or toes than normal (oligodactyly).[13678][13679]

Fuhrmann syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner.[13678] Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome.[13680] The diagnosis can be confirmed by genetic testing. Treatment for Fuhrmann syndrome depends on the specific symptoms of each affected person, but may include surgical options.[13352] 

Synonyms

• Bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies
• Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly