SNP Shot: Genomic Insights

Van der Woude syndrome is a genetic disorder impacting facial development. A common characteristic is the presence of a cleft lip or cleft palate (an opening in the roof of the mouth or upper lip) at birth, or both conditions co-occurring. Most individuals affected by this syndrome exhibit lip pits, which are small depressions usually located near the center of the lower lip. These pits often appear moist because they contain salivary and mucous glands. Small tissue mounds may also be present on the lower lip. Tooth agenesis, or missing teeth, can also occur in some instances.

Similar to others with cleft lip and/or palate, individuals with van der Woude syndrome who have these conditions may face a higher chance of experiencing delayed language development, learning challenges, or minor cognitive difficulties. However, the average intelligence quotient (IQ) of people with van der Woude syndrome is generally comparable to the general population's IQ.

Inheritance:

Van der Woude syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is necessary to cause the disorder. Typically, an affected person inherits the gene from a parent who also has the condition. In rare situations, a person may carry the altered gene but display no noticeable signs or symptoms of the disorder, a phenomenon known as incomplete penetrance.