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Fuhrmann syndrome
Disease definition
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.
ORPHA:2854
Summary
Epidemiology
It has been reported in 11 patients.
Clinical description
Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals, and hypoplasia and aplasia of the toes. Autosomal recessive inheritance is presumed.
Etiology
The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25).
Differential diagnosis
The syndrome is allelic to Schinzel phocomelia (or Al-Awadi-Raas-Rothschild syndrome), which results from null mutations in the same gene.
Additional information
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