Mononen-Karnes-Senac syndrome

Definition

A rare dysostosis with brachydactyly without extraskeletal manifestations characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with fibular overgrowth. Females were reported to exhibit phenotypic variation and be less severely affected than males who were similarly affected. There have been no further descriptions in the literature since 1992.