Van der Woude syndrome synonyms

Van der Woude syndrome, also known as lip-pit syndrome or lip-pit-cleft syndrome, is a rare genetic disorder that primarily affects the development of the face and mouth. It is named after the Dutch physician who first described the condition in 1954, Dr. E. Van der Woude.

Individuals with Van der Woude syndrome may exhibit a range of symptoms, but the most characteristic feature is the presence of lip pits. These are small depressions or openings in the vermilion border of the lower lip, usually near the midline. Lip pits can vary in size and depth and may be unilateral or bilateral. They are often accompanied by cleft lip and/or cleft palate, which are openings or splits in the upper lip and/or roof of the mouth.

In addition to lip pits and orofacial clefts, individuals with Van der Woude syndrome may also experience other craniofacial abnormalities. These can include malformed or missing teeth, abnormalities of the salivary glands, and underdevelopment of the facial muscles. Some individuals may also have hearing loss or speech difficulties due to the structural abnormalities in the mouth and palate.

Van der Woude syndrome is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, not all individuals with the syndrome have a family history of the disorder, as it can also occur due to spontaneous genetic mutations.

While there is no cure for Van der Woude syndrome, treatment focuses on managing the specific symptoms and associated complications. This may involve surgical repair of cleft lip and/or palate, orthodontic treatment to address dental abnormalities, and speech therapy to improve communication skills. Genetic counseling is also recommended for individuals and families affected by the syndrome to understand the risks of passing it on to future generations.