Summitt syndrome

Summitt syndrome is an extremely rare condition first described in two brothers. It is characterized by a range of physical features including different degrees of premature closure of the skull sutures (craniosynostosis) and fusion of the fingers and toes (syndactyly). People with this condition also experience significant obesity, but they typically have normal intelligence. Later observations in another patient added details such as a pointed skull shape (acrocephaly), short fingers (brachydactyly), bent fingers (clinodactyly), mild fusion of tissues in the hands and feet, and knock-knees (genu valgum). Some experts think that Summitt syndrome could be a variant of another disorder known as Carpenter syndrome.

The condition may include varying degrees of craniosynostosis and syndactyly. Other features that have been described include acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum (knock-knees), and marked obesity.

Summitt syndrome is noted as a recessive disorder. While its exact cause has not been fully detailed, it is suspected to be a variant of Carpenter syndrome. Further genetic information is very limited.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.