Van Der Woude syndrome refers to a disorder that affects face development. Individuals with this condition are born having a cleft palate and or cleft lip. They have pits (depressions) at the middle of the lower lip. This may look moist as a result of the presence of mucous and salivary glands in those pits. There may also be small mounds of tissue on the lower lip. In some instances, these individuals have some missing teeth. However, intelligence and growth is not affected by this condition. The disorder is caused by mutations occurring in IRF6 gene that gets inherited in an autosomal dominant manner.
There are many hospitals in the United States that offer specialized treatments for Van Der Woude Syndrome. However, travel is needed to access these healthcare facilities. It is notable that insurance service providers cover medical expenses but not travel costs. Patients therefore need to make their own travel arrangements wisely so that the cost of travel remains low.
If you have already identified the health center for your Van Der Woude Syndrome treatment, consultation or second opinion, you can go ahead and plan your travel. Otherwise, you can check our list of healthcare facilities in the US that provide specialized treatments for Van Der Woude Syndrome. In case you are unable to meet your travel costs, you can check our directory of charitable organizations that help in the arrangement of cost-free travel for medical purposes.
About Van Der Woude Syndrome
Van Der Woude Syndrome is an autosomal hereditary disorder as a result of a single gene mutation that manifests in equal distribution between both genders. Although the condition has high penetrance capped at approximately 96 percent, the phenotypic manifestation varies widely ranging from individuals with lower lip depressions, those with cleft lip, and cleft palate to those with no visible abnormalities. 88 percent of individuals with this disorder have lower lip pits while 64 percent of sufferers have only lower lip pits as the only visible manifestations of the disorder.
As an autosomal hereditary disorder, an affected parent has 50 percent chance of passing the condition to each baby. The disorder can also be caused de novo (through new mutations). The frequency of this disease ranges from one in 40,000 to one in 100,000 born babies.
Causes of Van Der Woude Syndrome
Van Der Woude syndrome is caused by a range of mutations in the IRF6 gene on chromosome 1. This gene is responsible for the formation of the mouth roof and other structures during growth. In order for the child to have the disorder, the gene only has to be passed down from one parent. This is because the gene is inherited in autosomal fashion.
Where to Go for Van Der Woude Syndrome Treatment
There are several hospitals in the United States that provide Van Der Woude syndrome treatments. These hospitals are equipped with the necessary tools, technology, doctors, support staff and medications that allow them to offer comprehensive and family-centered healthcare services. Among these facilities include the following;
- Seattle Children’s Hospital
The craniofacial team in Seattle Children’s Hospital is experienced in caring for babies with complex conditions that involve cleft lip and palate — including Van Der Woude Syndrome. Many of the patients treated in this facility are newly diagnosed babies. The hospital also works with children who received their initial care at other hospitals around the country.
Treatments of Van Der Woude Syndrome
Before treatment of this disorder can be undertaken, proper diagnosis is required. The diagnosis of Van Der Woude syndrome is normally based on the features manifest in the patient. The doctor may also recommend a genetic test that checks mutations of IRF6 gene. 70 percent of individuals suffering from this condition have this mutation. 97 percent of patients with Popliteal Pterygium syndrome have this mutation too.
The treatment of clefts in babies with Van Der Woude syndrome is almost the same as the treatment for cleft lip and palate alone. A surgical operation is done to repair the cleft lip when the baby is three months old. The cleft palate is surgically operated and repaired when the child is 10 months. The lip pits on the other hand, are removed palate or cleft lip operation.
Due to the fact that cleft palate may interfere with proper feeding, babies with cleft lip require evaluations immediately after they are born in order to come up with a feeding plan. Majority of these will require bottle-feeding using formula or breast milk through a bottle with special nipple. The baby will additionally require weight check on weekly basis by a pediatrician.
To help reduce the width, cleft lips should be taped immediately after birth awaiting surgical operation. The operation takes two to three hours and the baby may stay in the hospital for a night or two.
The doctor may also recommend hearing and eye tests because the infections of the ears and eyes are common in children suffering from these defects.
It is necessary to have orthodontic treatment with braces and alveolar bone grafting. This is done to fill the rest of the gap in the gum line. This starts with widening the jaw with an orthodontic piece of equipment as at when the permanent teeth have erupted approximately when the child is seven years old. After the widening is complete, bone grafting surgery is done. The last orthodontic treatment is done later when most of the permanent teeth are already there.
Risks Associated with Van Der Woude Syndrome
As a genetically inherited disease, individuals with genetic history of the disease are at higher risks of developing the disease. Individuals suffering from this condition also have increased risks of delayed language development and other mild cognitive problems. Due to the fact that the disease can develop de novo, those individuals who are consistently exposed to mutation agents are more at risk of developing the disease and passing it on.
Who Can Go for Van Der Woude Syndrome Treatment
Parents with a history of Van Der Woude Syndrome, or who have suffered from it should be sure to have their children well examined to rule out or treat the defects. Parents should go for genetic counseling before pregnancy. During pregnancy, the mother should be sure to have proper scans and exams to detect any abnormalities on the fetus even before birth. This ensures that any defects are detected and ealt with as early as it is medically possible.