How common is van der Woude syndrome?

Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases.

How do you test for Van der Woude syndrome?

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.

Are Lip pits bad?

The presence of lower lip pits in individuals with Van der Woude syndrome (VWS) may cause discomfort due to saliva secretion. Furthermore, one of the main complaints in relation to lip pits is poor aesthetics, which often affects quality of life.

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).

Why is there a hole on my lip?

The pitted area is simply a commissural lip pit. Although lip pits are a benign entity, most clinicians are somewhat baffled by their first encounter with this rather rare developmental anomaly. Lip pits are referred to as “blind caves” that are epithelial-lined with stratified epithelium.

What does charge syndrome stand for?

CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.

What is popliteal pterygium syndrome?

Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1 in 300 000 live births. The main clinical manifestations are popliteal webbing, cleft lip, cleft palate, lower lip pits, syndactyly, and genital and nail anomalies.

Are Lip pits normal?

Lip pits are the most common sign (>80%) and are mostly asymptomatic although dribbling and infection is possible. The second most frequent sign is cleft lip, followed by cleft palate, with variable clinical repercussions depending on severity.

Does everyone have lip pits?

The failure of fusion in the embryonic union of the maxillary and mandibular processes is cited as the possible etiology of lip pits (Neville et al. 1995). The population percentage is 12 to 20% in adults but much less in children (0.2 to 0.7% of the population).

What are the balls inside your lip?

A mucous cyst, also known as a mucocele, is a fluid-filled swelling that occurs on the lip or the mouth. The cyst develops when the mouth’s salivary glands become plugged with mucus. Most cysts are on the lower lip, but they can occur anywhere inside your mouth.

How common is CHARGE syndrome?

CHARGE syndrome is a rare disorder, affecting 0.1-1.2/10,000 live births. It affects males and females in equal numbers and has been seen in all races and on every continent. There are far more cases of CHARGE than those described in the medical literature.

Who is most at risk for Van der Woude syndrome?

Van der Woude syndrome is the most common genetic syndrome associated with cleft lip and palate, and is diagnosed in about 1 to 2 percent of children born with cleft lip and/or cleft palate. No differences in the incidence among races or gender have been described.

How does van der Woude syndrome affect your face?

Summary Summary. Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits.

Which is more severe van der Woude syndrome or IRF6?

Van der Woude syndrome represents the mild end of the spectrum of disorders known as IRF6-related disorders. At the more severe end of the spectrum is popliteal pterygium syndrome.

What can be done for Van der Woude syndrome?

The lip pits themselves can be removed with a minor surgical procedure. This can cure the drainage of saliva and improve the appearance of the lip, but often some irregularity of the lip remains after surgery. The long-term outlook for children with Van der Woude syndrome is generally very positive.