Van der Woude syndrome is a rare genetic disorder related to cleft lip and palate, characterized by pits or depressions of the lower lip, clefting of the lip and palate, and missing teeth. It is primarily cosmetic and can be treated with surgery, but there is a genetic factor and children of people with the condition have a 50/50 chance of inheriting it.
Van der Woude syndrome is a rare genetic disorder related to cleft lip and palate, a condition formerly known as labial fossa syndrome. It accounts for about 2% of people with this condition and has distinct genetic and physical characteristics. Treatment is primarily cosmetic, as people with this syndrome generally have no other physical defects or intellectual disabilities and can lead normal lives.
Signs of this syndrome include pits or depressions of the lower lip, often in the center, clefting of the lip and palate, and the absence of some teeth, usually the premolars. People with the condition can vary greatly in physical appearance, with dimpled lips being the most common visible sign, followed by clefting of one or both upper lip and palate. About half of those affected have both pits and fissures, and missing teeth only occur in a minority of cases.
There is a genetic factor in the syndrome and children of people with the condition have a 50/50 chance of inheriting it. Some people have such mild symptoms that the condition can go undiagnosed and then unknowingly passed on to children. Patients with severe manifestations of van der Woude syndrome are more likely to have children with severe manifestations, while people with mild cases are less likely to have children with severe manifestations. However, a severe case is very likely to occur in a family with no previously diagnosed cases.
There are a couple of other genetic conditions that appear to be related to van der Woude syndrome, as they tend to run 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 involving this condition appear to be related, as does popliteal pterygium syndrome, which also involves webbed skin on the back of the legs.
Cosmetic surgery is the main treatment for van der Woude syndrome. Surgery for splitting, if any, is the same as for any other disorder. Correcting lip pits can be trickier, as they can connect with the sinuses and salivary glands. If the excision of these is not complete, there may be trapped inflammation. Children with the syndrome should be monitored as they develop, as they may require speech therapy or multiple surgeries over a period of years to achieve a good cosmetic and functional outcome.
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