Van der Woude syndrome is a rare genetic disorder that can affect how a child's mouth forms and can cause cleft lip and/or palate (an opening in the upper lip and roof of the mouth). Van der Woude syndrome causes birth defects, that are issues of development of a child in the womb. It is not a severe disease and does not usually have any impact on growth or intelligence, however, it can cause issues with speech and language development.

Van der Woude syndrome is caused by a genetic mutation (change) in a specific gene (IRF6 gene) that is responsible for the early development of tissues in the face and head. The genetic mutation can be inherited from the parents; if one parent has the condition there is a 50% chance of it being inherited, or can be an entirely new mutation even if the parents do not have the genetic mutation that causes Van der Woude syndrome.

There are several methods for diagnosis of Van der Woude syndrome, if it is suspected that a child may have the genetic condition; due to a parent having Van der Woude syndrome, prenatal screening and testing can occur to confirm a diagnosis. After birth, if a child presents with symptoms such as cleft lip, cleft palate, or lip pits, genetic testing can be performed to confirm whether this symptoms are caused by Van der Woude Syndrome.

Treatment for Van der Woude syndrome is surgical intervention, to correct the lip and mouth issues that are typical. The surgery would usually occur between 2 and 18 months of birth, depending on the nature and severity of the defect.

Symptoms of Van der Woude

Van der Woude syndrome has some symptoms that present commonly when the gene mutation that causes Van der Woude syndrome is present, these symptoms are-

• Cleft lip/palate (one or both of these conditions)
• Lip pits or mounds on the lower lip
• Wet-looking lower lip, due to mucus and salivary glands connected to lip pits
• Missing teeth or enamel

Van der Woude syndrome generally has no effect on intelligence or growth¹ but due to the nature of the symptoms; affecting the mouth and face, there can be spoke impact on speech and language development at an early age.²

Cause of Van der Woude syndrome

Van der Woude syndrome is caused by a genetic mutation (change) in specific genes, these can be passed on from parents to children if one or both adults have said mutation. The genetic mutation can also occur randomly due to a newly occurring genetic mutation. Van der Woude syndrome requires only one parent to pass on the necessary mutation, with there being a 50% chance of passing on the mutated gene.

The mutation that causes Van der Woude syndrome is known to occur in one of two genes, GRHL3 or IRF6 genes, knowing this allows doctors to know whether the cause of the cleft lip/palate is Van der Woude syndrome.³

Diagnosis of Van der Woude syndrome

Diagnosis of Van der Woude syndrome can occur before birth with prenatal screening; if one parent has the genetic mutation, testing can be done to confirm whether it has been passed to the child. Ultrasound can detect a cleft palate/lip whilst the child is still developing in the womb. Other prenatal tests can be done to directly test for the genetic mutations that cause Van der Woude syndrome these are: 

Chorionic Villus Sampling (CVS) - cells are taken from the placenta; that have the foetus’ genes, and can be tested to confirm genetic mutations that may cause many disorders, such as Van der Woude syndrome or Down syndrome.

Amniocentesis - A small amount of amniotic fluid (fluid that surrounds the foetus in the womb) is removed, this will contain some cells of the foetus that can then be tested for genetic mutations.

If these prenatal tests are not used then after birth; if the child presents with a cleft lip/palate, genetic testing will be done to search for genetic mutations and confirm whether Van der Woude syndrome is the cause.²

Treating Van der Woude syndrome

The main approach for treating Van der Woude syndrome is surgery to correct any cleft lip or palate and any lip pits. Through surgery the gaps in the lip and palate can be repaired and joined together, the surgery for a cleft lip usually occurs around 3-6 months, with the cleft palate surgery at 10-18 months after birth, any lip pits and issues with salivary pr mucus glands can be fixed at the same time as either the lip or palate cleft surgery.

Due to the nature of the symptoms, babies suffering from Van der Woude syndrome may have issues with feeding so an approach must be strategized to ensure that the baby is fed properly and no issues arise from this.^4,2 

Post-surgery there may be a need for speech therapy so that the child can continue to improve verbally and make up for any lost time that may be suffered as a result of Van der Woude syndrome.²

Depending on the extent of the cleft and how the development of the face and mouth has been affected by Van der Woude syndrome, there may be a need for orthodontic treatment; due to missing teeth and affected gums.⁵ 

Prognosis

Those who are confirmed to have Van der Woude syndrome generally go through surgery to correct their lip or palate issues, this surgery is highly successful. Post-surgery people go on to live full lives, with no further issues related to the disorder, unless speech therapy is required to aid in correcting any issues that have arisen with speech due to Van der Woude syndrome.²

Prevention

With help from a genetic counsellor, parents can understand the risk they stand of passing on the mutated gene that causes Van der Woude syndrome; this is for those that have van der Woude syndrome, they may also help advise on how to lower the risk of passing on the mutated gene to any future children.² 

Summary

Van der Woude syndrome is a rare genetic disorder that can be passed on by parents or can occur through a random genetic mutation. 

Van der Woude syndrome affects the development of the head and face of a foetus; the several parts of the head and face that should join together in the womb fail to do so; this is caused by a mutated gene that is responsible for the normal development being no longer fully functional.

The most common symptoms associated with Van der Woude syndrome are:

• Cleft lip
• Cleft palate
• Lip dips (depressions on the lower lip that appear wet due to increased salivary or mucus glands)

Long term there are generally no further symptoms or issues that arise from Van der Woude syndrome; however, speech problems can occur due to the nature of the disorder affecting the head and face.

Van der Woude syndrome can be diagnosed with prenatal screening; before the child is even born, ultrasound imaging can show the presence of a cleft lip or palate. This can then be diagnosed with prenatal genetic tests: Chorionic Villus Sampling (CVS) and Amniocentesis. These tests can also be used if there is thought to be a risk of Van der Woude syndrome; if either parent also has the condition, and to detect other potential genetic mutations in the foetus.

After birth, if the child presents with symptoms of Van der Woude syndrome; and prior genetic testing has not occurred, then genetic testing can be used to confirm whether Van der Woude syndrome is the cause of the cleft lip/palate.

Treatment for van der Woude syndrome is focused on rectifying the symptoms, this is done through surgery. This usually takes place in two stages; fixing the cleft lip, then the cleft palate, this can take place around the 3-month age mark, with the second procedure around 10-18 months, lip pits can be corrected at the same time as either procedure.

Speech therapy may then be required if there has been an impact on speech due to the cleft lip/palate.

The surgery is very effective and usually leads to anyone with Van der Woude syndrome leading a full, healthy life.