Mononen-Karnes-Senac syndrome

Mononen-Karnes-Senac syndrome is a rare condition that affects the skeleton. This syndrome is mainly characterized by abnormalities in the hands and feet. People with this condition may have short fingers with notably short and outwardly placed thumbs, a short index finger, and a marked shortening and outward placement of the great toes. In addition to these limb differences, there can be mild short stature and a slight bowing of the legs with an overgrowth of the fibula. The condition has been seen in a small number of families, including two affected males along with their mothers and a maternal aunt. Females tend to be less severely affected than males, and the pattern of inheritance appears to be X-linked dominant.

Common signs of this condition include skeletal abnormalities such as brachydactyly, which means the fingers and toes are shorter than usual. Specifically, the thumbs and great toes are both short and tend to be positioned outward. There may also be short index fingers, mild short stature, a slight bowing of the legs, and an overgrowth of the fibula.

Mononen-Karnes-Senac syndrome is suggested to be inherited in an X-linked dominant fashion, meaning that the gene responsible is found on the X chromosome. This inheritance pattern may explain why females often have milder symptoms compared to males. However, specific genes involved have not been identified.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.