limb/pelvis-hypoplasia/aplasia syndrome (LPHAS); absence of ulna & fibula with severe limb deficiency

Pathology

• limb-malformation disorder
• various degrees of limb aplasia/hypoplasia & joint dysplasia

Genetics

• associated with defects in WNT7A

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• Fuhrmann syndrome; fibular aplasia or hypoplasia femoral bowing & poly- syn- & oligodactyly

Database

• OMIM: https://mirror.omim.org/entry/276820