What Is Van Der Woude Syndrome?

You might have heard reports about babies born with clefts or gaps in their palate and lips, also known as ‘Orofacial clefting’. This is a very common developmental genetic disorder. However, in some cases, other abnormal features may accompany it as well. One such disorder is Van Der Woude (van-der-wood-eee) Syndrome, the most prevalent type of syndromic orofacial clefting, making up approximately 2% of all instances of this condition.⁴

Learning that your child has a congenital condition can be emotionally overwhelming and stressful, but rest assured because this condition is treatable. 

Overview

Van Der Woude Syndrome is a rare genetic disorder that primarily affects the development of the face and mouth. The affected individuals are born with small pits on their lower lip that may or may not be accompanied by cleft lip and/or cleft palate. Also, some individuals with the syndrome can present with missing teeth. Such children may have speech delays and problems associated with swallowing. However, several treatment modalities exist that can improve both function and appearance of the people suffering from this condition. 

How common is this syndrome?

Van Der Woude Syndrome (VWS) has been reported to occur in about 1 in 100,000 to 1 in 35,000 births. There is no difference in occurrence between males and females.⁵ 

What are the features of van der woude syndrome?

The features of VWS can be seen as soon as the child is born. However, the features and their intensity may vary among individuals and may occur on one or both sides of the face. 

The most common features are:  

• Lower Lip Pits: Small depressions near the midline of the lower lip on one or both sides. The pit may be circular or oval but can also be transverse or slit-like or be located at the tip of nipple-like elevations. These pits may sometimes appear wet because of a watery or saliva-like secretion coming out of them, especially during meal times.¹
• Cleft r Lip: Cleft lip refers to an opening or gap in the upper lip. This is a birth defect that occurs when parts of the lip fail to join together during its development in the womb. It may occur only on one side (unilateral) or both sides (bilateral)
• Cleft Palate: Cleft palate is a slit-like gap in the roof of the mouth (palate), that occurs as a result of incomplete fusion of the palate during its development. . It can manifest as either unilateral or bilateral, complete or incomplete, or it may extend to the softer part of the roof (soft palate).^2,3
• Missing teeth: Many cases of VWS have been reported to have missing teeth, mostly upper lateral incisors or second premolars. In some cases, thin enamel (enamel hypoplasia) was also seen.⁴
• Other features associated with the syndrome include:
  • Tongue tie
  • Narrow arched palate 
  • Congenital heart disease 
  • Cerebral abnormalities and
  • Syndactyly (fused or webbed fingers)¹

• Individuals with VWS who have cleft lip and/or palate have an increased risk of having delayed speech development and mild cognitive problems. However, their IQ levels were normal.

Cause & inheritance pattern

Van Der Woude Syndrome is a genetic disease caused by a mutation or alteration in the Interferon Regulatory Factor 6 (IRF-6) gene. This gene is required for the synthesis of proteins that are necessary for the development of facial structures in early growth. 70% of VWS cases are due to mutations in\IRF6 gene, 5% are due to mutations in the GRHL3 gene, and 25% are due to unknown causes. 

In most cases, a person who has VWS has one parent who also has the same condition. As this is an autosomal dominant disorder, it means that if a person inherits one copy of the mutated gene from either parent, they will have the associated trait or condition.⁵

Diagnosis

Van der Woude syndrome is typically diagnosed through a combination of clinical evaluation and genetic testing.²

• Clinical Evaluation: The characteristic finding of VWS is lower lip pits, with or without cleft lip and/or palate
• Genetic testing: If your physician suspects your newborn has VWS, he/she will order a gene test to be done to look for the mutated gene. Genetic testing can provide a definitive diagnosis and help determine whether the syndrome is inherited from a parent.
• Family History: Information about the family's medical history is important, as Van der Woude syndrome often has a hereditary component. If other family members have had similar features or a known genetic mutation related to the syndrome, this can be a valuable diagnostic clue.

In this era of modern sciences, genetic testing can be done while the baby is still in the womb, such as in cases where one parent has the condition and they suspect that their child may inherit it. These tests include prenatal ultrasound, chorionic villus sampling, and genetic amniocentesis.  

Treatment & management

Treatment for Van der Woude syndrome typically involves a multidisciplinary approach, a combination of medical, surgical, and therapeutic interventions, depending on the specific features and needs of the affected individual.

• Surgical repair for Cleft Lip & Palate: According to the Cleft Lip & Palate Association, surgical correction of the cleft lip is usually performed when the child is 3-6 months old, while for cleft palate, it is performed later when the baby is 6-12 months old.
• Lip Pit surgery & care: In some cases, surgery has to be performed to remove these pits for cosmetic reasons or to stop saliva flowing from them. 

Infection of these pits may warrant the use of antibiotics and analgesics and maintainance of oral hygiene 

• Orthodontic and Dental Care: Individuals with Van der Woude syndrome may need regular dental check-ups and proper oral hygiene instructions. Sometimes, braces may also be needed if their teeth fail to erupt in their normal positions.
• Hearing Assessment: Some individuals with Van der Woude syndrome may have ear abnormalities that can affect hearing. Regular hearing assessments are essential to identify and manage any hearing issues. Hearing aids may be given in some cases.
• Speech Therapy: Speech therapy may be necessary to address speech and language difficulties that can result from cleft lip and palate. Therapists work with individuals to improve articulation and communication skills.
• Feeding support: Advising parents about the position of the baby while breastfeeding or use of a special bottle since babies with cleft lip/palate may suffer from feeding problems.
• Support Groups & Counseling: Living with facial differences can impact an individual's self-esteem and psychosocial well-being. Psychosocial support, including counselling and support groups, can be valuable for both individuals and their families.^1,2,4

Remember that each individual with Van der Woude Syndrome is unique, and the management of the condition may vary. It's essential to consult with healthcare professionals specializing in congenital craniofacial conditions for personalized guidance and care.

Long-term outlook

Most of the children who undergo surgeries for repair of cleft lip and palate lead a healthy and normal life, as the treatment helps improve their appearance with minimal scarring that fades away with age. Additionally, speech therapy and hearing aids help them resolve their speech or hearing problems. 

Prevention

Genetic counselling can provide families with information about the genetic basis of Van der Woude syndrome, its 50% chance of inheritance, and the likelihood of passing it on to future generations. Moreover, prenatal diagnosis via embryo copy and prenatal genetic testing allows for early termination of pregnancy in patients with VWS.⁴

FAQs

What is the differential diagnosis of van der woude syndrome?

The differential diagnosis includes;

• Oro-facial-digital syndrome: In addition to cleft palate, hypodontia, and lip pits, it is also associated with abnormalities of the hands, kidneys, and brain
• Popliteal pterygium syndrome: This condition is characterized by cleft lip, cleft palate & lip pits as well as pyramidal skin fold over the big toe, underdeveloped or abnormal genitalia, and skin webs between fingers⁴ 

What are the risk factors for van der woude syndrome?

Parents having a history of Van Der Woude syndrome have a high risk of having a baby with this syndrome. 

Are there support groups for individuals and families affected by van der woude syndrome?

Yes, there are support groups and organizations that provide information, resources, and a sense of community for those affected by VWS and their families.³

Summary

Van der Woude Syndrome is a rare genetic disorder characterized by cleft lip and/or palate, along with other facial features. It is diagnosed through clinical evaluation and genetic testing, and treatment typically involves a combination of surgical repairs, orthodontic care, speech therapy, and ongoing medical support. Seeking support from healthcare professionals, support groups, and counselling can be invaluable for parents as well as children facing the emotional impact of a VWS diagnosis. Additionally, with early intervention and a comprehensive care plan, children with VWS can lead fulfilling lives and achieve their potential, emphasizing that every smile tells a unique story of resilience and triumph.