Mononen-Karnes-Senac syndrome

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Synonyms: Skeletal dysplasia-brachydactyly 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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