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Fuhrmann syndrome; fibular aplasia or hypoplasia femoral bowing & poly- syn- & oligodactyly
Pathology:
- distinct limb-malformation disorder
- various degrees of limb aplasia/hypoplasia & joint dysplasia
Genetics:
- associated with defects in WNT7A
Related
limb/pelvis-hypoplasia/aplasia syndrome (LPHAS); absence of ulna & fibula with severe limb deficiency
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 228930
References
OMIM :accession 228930