Fuhrmann syndrome

Term ID

DOID:0090067

Synonyms

Definition

A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. (2)

References

• GARD:2410
• ICD10CM:Q74.8
• MESH:C538189
• OMIM:228930
• ORDO:2854

Ontology

Human Disease   ( DOID:0090067 )