Summitt syndrome is a rare genetic disorder that has only been known to affect a few people throughout the world. It is mainly characterized by craniosynostosis, which is the early fusion of the bones of the skull. This causes brain and skull growth problems. Individuals also have fingers and toes that are joined together and curved, knees that bend in when legs are straight, and experience obesity. These symptoms tend to appear during early childhood. It has been suggested that this condition is a variant of Carpenter syndrome, which has similar symptoms.
This condition is inherited (passed through families) in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of Summitt syndrome, their children have a one in four chance (25%) of having the condition. However, the gene associated with Summitt syndrome is still unknown.
If you or a family member has been diagnosed with this condition, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 18, 2018