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.
MONDO:0019054
congenital limb malformation
is_a
Mononen Karnes Senac syndrome
related
brachydactyly Mononen type
related
skeletal dysplasia brachydactyly
related
skeletal dysplasia-brachydactyly syndrome
exact
thumbs and great toes short and abducted
related