More symptom information
Learn more about specific symptoms of this leukodystrophy in the pages listed here.
Also known as: Meyer-Schwickerath syndrome; Oculodentoosseous
Oculodentodigital Dysplasia with cerebral white matter abnormalities (ODD) is a rare genetic disorder caused by mutations in the GJA1 gene, which encodes a connexin protein involved in cell communication. It affects multiple systems in the body, leading to distinct facial features, eye, dental, and hand abnormalities. Additionally, ODD is associated with cerebral white matter abnormalities, causing neurological symptoms like developmental delay, intellectual disability, and movement difficulties. Treatment primarily focuses on managing symptoms and providing supportive care to improve the affected individual’s quality of life.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Mutations in the GJA1 gene cause this condition. The GJA1 gene creates a protein (connexin 43) used to form gap junctions – channels of communication between cells. When the protein is abnormally formed, the communication channels are closed, disrupting cell-to-cell communication. This prevents growth and specialisation of cells, leading to the developmental symptoms described.
Autosomal dominant: In autosomal dominant conditions, only one copy of the genetic mutation is needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. Someone with an autosomal dominant condition has one parent with a copy of the genetic mutation and the condition themselves. Therefore, someone with an autosomal dominant condition has a genetic mutation on one copy of the gene from their parent with the condition. Each child of a parent with the genetic mutation will have a 50% chance of having the condition and a 50% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
This condition most severely affects the eyes, teeth and fingers. Those with ODD typically have microphthalmia and abnormalities leading to vision loss, such as strabismus. They will experience small or missing teeth, weak enamel, early tooth loss and cavities. A thin nose and syndactyly between the fourth and fifth fingers are characteristic of this condition.
Other less common symptoms are sparse hair growth, brittle nails, microcephaly, a cleft palate, webbed toes and camptodactyly. Lack of bowel control, ataxia, spasticity, hearing loss and dysarthria may also occur.
Learn more about specific symptoms of this leukodystrophy in the pages listed here.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
We take great care in only selecting credible, useful links and resources, however we cannot be held responsible for the content of external websites or other sources.