Van der Woude syndrome is a rare genetic disorder related to cleft lip and cleft palate, a condition formerly known as lip pit syndrome. It accounts for approximately 2% of people with this condition, and has distinct genetic and physical features. Treatment is mostly cosmetic, since people with this syndrome do not generally have other physical defects or intellectual disabilities and can lead normal lives.
The signs of this syndrome include lower lip pits or depressions, often in the center, clefting of the lip as well as the palate, and the absence of certain teeth, usually the premolars. People with this condition can vary greatly in physical appearance, with lip pits being the most common visible sign, followed by clefting of either or both the upper lip and the palate. Around half of affected people have both pits and clefting, and missing teeth only occur in a minority of cases.
There is a genetic factor to the syndrome, and the children of people with this condition have a 50/50 chance of inheriting it. Some people have such mild symptoms that the condition may remain undiagnosed, and therefore unknowingly passed on to children. Patients with severe manifestations of van der Woude syndrome are more likely to have children with severe manifestations, whereas people with mild cases are less likely to have children with severe manifestations. It is very possible, however, for a severe case to arise in a family with no previously diagnosed cases.
There are a couple of other genetic conditions which seem to be related to van der Woude syndrome, since they tend to occur in the same extended family. The full genetic profile of the syndrome and the specifics of how it relates to other disorders is not yet known. Other syndromes that involve this condition seem to be related, as well as popliteal pterygium syndrome, which involves webbed skin on the backs of the legs as well.
Cosmetic surgery is the primary treatment for van der Woude syndrome. The surgery for clefting, if present, is the same as for that which is caused by any other disorder. Correcting the lip pits can be trickier, since they can connect with sinuses and salivary glands. If excision of these is not complete, there can be trapped inflammation. Children with the syndrome should be monitored as they develop, since they may require speech therapy or multiple surgeries over a period of years to achieve a good aesthetic and functional result.