This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|30%-79% of people have these symptoms|
|Lower lip pit||0000196|
|5%-29% of people have these symptoms|
|Abnormal salivary gland morphology||
Abnormality of the salivary glands
|Cleft upper lip||
Failure of development of between one and six teeth
|Percent of people who have these symptoms is not available through HPO|
Lip pits and cleft lip AND/OR palate (CLP). Lip pits must be paramedian on the lower lip, and can include mounds with a sinus tract leading from a mucous gland of the lip.
Lip pits alone and a
CLP and a first-degree relative with lip pits
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The main differential diagnosis is autosomal dominant popliteal pterygium syndrome (PPS; see this term). VWS has a milder phenotype; PPS includes popliteal pterygia, syndactyly, and abnormal external genitalia. There is significant overlap in the craniofacial features of the two syndromes. Other conditions to consider include isolated cleft lip and Kabuki syndrome (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My nephew was born with a cleft lip and lip pits but tested negative for van der Woude syndrome. Neither parent has cleft lip, lip pits, or a family history of either. Is it possible that this genetic test is incorrect? See answer