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GTR Home > Conditions/Phenotypes > Fuhrmann syndrome

Fuhrmann syndrome

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
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. 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. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25). [from SNOMEDCT_US]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Wnt-7a, WNT7A
    Summary: Wnt family member 7A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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