Biology:Buttien-Fryns syndrome

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Short description: Congenital genetic disorder which causes oligodactyly and micrognathia

Template:Infobox Disease

Buttien-Fryns syndrome is a congenital genetic disorder that causes severe oligodactyly and micrognathia. It is caused by a change in the structure of the 10q gene.[1] The condition has been reported in four patients, two of which were siblings.[2]

Cause

Buttien-Fryns syndrome is caused by a duplication or triplication of the 10q24 gene.[3] This gene is also associated with other conditions such as split hand.[1] The condition is inherited in an autosomal recessive manner.[4]

Symptoms

Oligodactyly and micrognathia are the most well known symptoms of the disease. Other symptoms include:[4]

References