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Mononen-Karnes-Senac syndrome

Disease Summary
Associated Targets ()

Mondo Description 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 Term and Equivalent IDs
MONDO:0010538:  Mononen-Karnes-Senac syndrome
GARD:0004886: 
MESH:C535914: 
Orphanet:2565: 
SCTID:733095006: 
UMLS:C2931060: