Mononen-Karnes-Senac syndrome

Mononen-Karnes-Senac syndrome is 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 overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.

Also known as: skeletal dysplasia-brachydactyly syndrome, Mononen Karnes Senac syndrome, brachydactyly Mononen type, brachydactyly, Mononen type, skeletal dysplasia brachydactyly, thumbs and great toes short and abducted, thumbs and great toes, short and abducted

1 clinical trial for this condition and its sub-types, 0 tagged with Mononen-Karnes-Senac syndrome itself.