What Is van der Woude Syndrome? Early Signs and Symptoms of This Genetic Disorder
Van der Woude syndrome, also called Verworren’s disease, is a condition that causes craniofacial abnormalities. It is also associated with other complications affecting the brain, eyes, and heart. There are only roughly 300 cases of van der Woude syndrome globally, making it a rare disease. If you or your child has symptoms, see the physician for a diagnosis.
What is Van der Woude Syndrome?
Van der Woude syndrome is a rare genetic disorder that presents with nystagmus, anophthalmia, and intellectual disability features. This syndrome is caused by a gene, “RET,” which encodes the tyrosine kinase receptor Ret. Ret mutations can lead to disorders ranging from dominant, autosomal-recessive, and X-linked recessive forms.
Mutations in the gene encoding the p73 protein can be found in approximately half of all cases of familial HCC. Mutations associated with p73 are characterized by an increased number of CAG repeats and reported in the literature for these patients. The most common mutation, length of 49 to 51 repetitions, is located in exon 3 of the gene; however, other mutant p73 proteins found in the liver include proteins with deletions and different lengths of CAG repeats.
Signs and Symptoms of Van der Woude Syndrome
Van der Woude syndrome is a disorder in which the optic nerves become inflamed. Signs and symptoms of Van der Woude syndrome include blurred vision, floaters, flashes, and yellow spots in the visual field. In most cases, the condition resolves within six months to a year. In the case of Van der Woude syndrome, the signs and symptoms are blurred vision, floaters, flashes, and yellow spots in the visual field. Diagnosis of Van der Woude syndrome is made by an eye doctor (ophthalmologist) or a neurologist. The doctor will ask about your symptoms and medical history. They will also give you a physical exam.
Your doctor may examine the front of your eyes for signs of damage. You may be asked to look into light or shine a light in your eyes. This is called indirect ophthalmoscopy. Your doctor may ask you to follow their finger with your eyes. This is called visual field testing.
Diagnosing Van Der Woude Syndrome
A person with Van Der Woude Syndrome will have a large area of discoloration on the skin from birth. Van Der Woude Syndrome is a condition where a person has a large area of discoloration on the skin from birth. This occurs when a person has an extra copy of the A1 or A2 gene from one of their parents, who have regular copies of the A1 or A2 gene. There are different Van Der Woude Syndrome types, depending on which type of A1 or A2 gene is extra. Type A1
This is the more common type. An extra A1 gene causes it. People with this type have relatively mild symptoms, usually start to show signs around the age of 10, and are likely to remain asymptomatic until they reach their twenties or thirties. The most common feature is pigmentation problems, often with a facial mask of freckles, moles, birthmarks, or darkened areas (especially on the lower legs).
Treatment for Van Der Woude Syndrome
Van Der Woude Syndrome is a type of anemia in which one of the two types of hemoglobin in red blood cells is not formed correctly. Treatment for Van Der Woude Syndrome is to take monthly transfusions of the missing type of hemoglobin. A blood transfusion can usually be given once or twice a week during treatment. The goal of treatment is to stabilize the patient and prevent further deterioration of organs such as the heart, liver, lungs, and eyes.
Treatment for Sickle Cell Disease involves taking medications daily and having regular medical checkups. Medications include aspirin, blood pressure medicine, pain medicine, and anti-inflammatory medicine (usually non-steroidal anti-inflammatory drugs). If you have sickle cell disease, you must take your medications as prescribed. Missing or skipping any doses of your medications can cause your condition to get worse.
Injections are sometimes used if blood transfusions are not possible.
Adults who have sickle cell disease and feel they need treatment should talk with their doctor about the risks and benefits of receiving blood transfusions.
Prevention for Van Der Woude Syndrome
Van Der Woude Syndrome is a rare autosomal dominant disorder with incomplete penetrance and variable expressivity characterized by excessive soft tissue. The cause of Van Der Woude Syndrome is unknown, and there is no prevention. Currently, there is no effective treatment.
Van Der Woude Syndrome affects approximately 1 in 15,000 people worldwide. Although it is rare, Van Der Woude Syndrome can cause many different signs and symptoms, including vision loss in one or both eyes (either complete or partial)
- Loss of peripheral vision
- Abnormal color vision
- High intraocular pressure
- Problems with eye movement
- Problems with accommodation
- Sluggish pupillary light reflex
- Blurred or double vision
Floaters or flashes of light behind the eye (retinal detachment)
Decreased visual acuity due to changes in the shape of the lens of the eye
An abnormal number of sweat glands that may cause excessive sweating, especially of the palms and soles of the feet
Increased risk of infections (intense skin infections)
Future Treatments for Van Der Woude Syndrome
Van Der Woude Syndrome (VWS) is a rare genetic condition affecting people of all ages. It is characterized by the fusion of the skull bones, leading to breathing difficulties, visual problems, and hearing loss. There are currently no known treatments for VWS; however, there are potential treatments that could be explored in the future. Future therapies for Van Der Woude Syndrome involve using bone grafts to treat the skull fusions and the surgical replacement of the ear with a synthetic prosthesis.
The condition was first described in 1875 by the German physician and pathologist Emil von Preradovich, who gave it the medical name “congenital fibrous dysplasia.” He noted that the bone development would be stunted or absent, particularly in the skull. The term “dysplasia” means abnormal growth, but the growth is not malignant in this case.
A tissue sample is sent to a pathologist (a doctor who diagnoses and treats disease) for further evaluation. For example, in some cases, a surgeon may need to remove a portion of the earlobe to allow a more giant, more benign tumor to be removed.
In rare cases, cancer may spread to other parts of the body. These are life-threatening cancers, but they are treatable if caught early.