What is Van der Woude Syndrome (VWS)? Clefts of the lip has many causes.
One cause is Van der Woude Syndrome (VWS), an inherited disorder.
Inherited disorders are passed from adult to child through genes.
About three percent of people with a cleft have VWS. Side effects of VWS include:
mounds or pits on the lower lip
cleft lip with or without cleft palate
cleft pits alone
missing teeth
People who show signs of VWS can have one or more of these symtoms. It is the lip pits or mounds that help set VWS apart from other types of cleft syndromes.
Lip mounds (top) and lip pits (bottom) in patients with VWS What causes VWS?
Genes, the basic cell of heredity, contain blueprints for human growth and development. Genes are found on chromosomes. people have 46 chromosomes, 23 coming from the mother and 23 coming from the dad. A change or mutation in a single gene on chromosome number one causes VWS. Of the people who inherit this altered gene, 95 percent have some features of VWS. Some people who inherit an altered VWS gene do not show any features.
Can future children have VWS?
VWbbS is inherited in a pattern. In VWS, the altered gene is the dominant gene.
This means the person with an altered Van Der Woude gene usually has some feature of the syndrome.
People with Disease have a 50 percent chance of passing the dominant, altered gene to their children, whatever of the sex of the child.
They also have a 50 percent chance of passing the normal gene to their children.
Children who inherit the unaltered gene will not have VWS and thus cannot pass it on to future children. The severity of VWS features cannot be predicted even within a family.
It is not known why some people have lip pits only, some people have lip pits and a cleft, some people have only a cleft, while others do not show any features.
Van der Woude syndrome is an autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both.
It is the most common syndrome associated with cleft lip or cleft palate.
The degree to which individuals who carry the gene are affected widely varies, even within families.
These variable manifestations include lower lip pits alone, absent teeth, or isolated cleft lip and cleft palate of varying severity.
Hypodontia (absent teeth) has been increasingly recognized as a frequently associated anomaly.
Others have severe clefting in the lip or palate. Lip pits are often associated with accessory salivary glands that empty into the pits, which occasionally leads to embarrassing visible discharge.
Hypodontia is present in 10-81% of affected individuals. Most The upper and/or lower second premolars are frequently goneh.
History
Because of its variability, obtaining a detailed family history is important in diagnosing van der Woude syndrome. However, approximately 30-50% of all cases of van der Woude syndrome arise as a de novo mutation.
The pedigree should suggest an autosomal dominant inheritance pattern, unless the phenotype is the result of a de novo mutation in the affected individual. Expressivity also widely varies, and careful clinical examination of parents and relatives may be necessary.
Physical examination of relatives, close examination of family photos, or interviews of older relatives may be necessary to identify minimally affected family members.
By:Michael Allison
What is Van der Woude Syndrome (VWS)?
Clefts of the lip has many causes.
People who show signs of VWS can have one or more of these symtoms. It is the lip pits or mounds that help set VWS apart from other types of cleft syndromes.
Lip mounds (top) and lip pits (bottom) in patients with VWS
What causes VWS?
Genes, the basic cell of heredity, contain blueprints for human growth and development. Genes are found on chromosomes. people have 46 chromosomes, 23 coming from the mother and 23 coming from the dad. A change or mutation in a single gene on chromosome number one causes VWS. Of the people who inherit this altered gene, 95 percent have some features of VWS. Some people who inherit an altered VWS gene do not show any features.
Can future children have VWS?
- Van der Woude syndrome is an autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both.
- It is the most common syndrome associated with cleft lip or cleft palate.
- The degree to which individuals who carry the gene are affected widely varies, even within families.
- These variable manifestations include lower lip pits alone, absent teeth, or isolated cleft lip and cleft palate of varying severity.
- Hypodontia (absent teeth) has been increasingly recognized as a frequently associated anomaly.
- Others have severe clefting in the lip or palate. Lip pits are often associated with accessory salivary glands that empty into the pits, which occasionally leads to embarrassing visible discharge.
- Hypodontia is present in 10-81% of affected individuals. Most The upper and/or lower second premolars are frequently goneh.
History- Because of its variability, obtaining a detailed family history is important in diagnosing van der Woude syndrome. However, approximately 30-50% of all cases of van der Woude syndrome arise as a de novo mutation.
- The pedigree should suggest an autosomal dominant inheritance pattern, unless the phenotype is the result of a de novo mutation in the affected individual. Expressivity also widely varies, and careful clinical examination of parents and relatives may be necessary.
- Physical examination of relatives, close examination of family photos, or interviews of older relatives may be necessary to identify minimally affected family members.
Work Cited