What is van der Woude syndrome?

What is van der Woude syndrome?

What is Van der Woude syndrome? Patient with cleft lip and palate as well as lower lip pits, characteristic of Van der Woude syndrome. Van der Woude syndrome is a rare genetic disorder characterized by various structural deformities of the mouth. The disorder affects between 1 and 3 children in every 100,000.

Why are children who are born with complete clefts of the soft palate at high risk for middle ear problems hearing loss?

Ear infections and hearing loss: Children with cleft palate are at increased risk of ear infections since they are more prone to fluid buildup in the middle ear. If they are not treated, ear infections can cause hearing loss. Speech problems: Children with cleft palate may also have trouble speaking.

Is cleft lip related to other problems?

Sometimes when a child is born with a cleft lip and/or palate there is a chance that they may have additional medical condition/s. These associated conditions include ‘Pierre Robin Sequence’ (PRS), Stickler Syndrome and 22q11 Deletion Syndrome.

Does cleft lip cause deafness?

Isolated cleft lip is not generally associated with hearing difficulties. However due to the presence of a facial difference it is recommended that hearing is tested to ensure that no hearing difficulties are present.

How is Van der Woude syndrome diagnosed?

Van der Woude syndrome is usually diagnosed based on its features. A genetic test is available that identifies a mutation in the IRF6 gene, which is found in 70 percent of people with van der Woude syndrome. A mutation in this gene is found in 97 percent of people who have features of Popliteal Pterygium syndrome.

What causes lip pits?

Genetic defect of lip pit was found to be due to micro deletion on chromosome bands Iq32-q4 (5,6). More recently a mutation in the IRF6gene was identified (7). The main clinical manifestations are pits and/or sinuses of the lower lip associated with cleft lip and /or palate and occasionally hypodontia (8).

Is cleft palate hereditary?

Researchers believe that most cases of cleft lip and cleft palate are caused by an interaction of genetic and environmental factors.

Is cleft lip hereditary?

The causes of cleft lip and cleft palate (or both) are unknown, although hereditary (genetic) factors sometimes play a small role. A cleft lip or cleft palate (or both) is not caused by anything the parents did or did not do during the pregnancy.

How is cleft palate related to otitis media?

Otitis media with effusion is ubiquitous in children who have a cleft palate. The cause is simply the lack of proper insertion of the tensor veli palatini muscle in the soft palate. The muscle is, therefore, unable to open the eustachian tube on swallowing or wide mouth opening.