OTUD6B-associated syndrome is a genetic condition that often affects multiple systems of the body. Patients with OTUD6B-associated syndrome typically start to experience delays in their developmental milestones and/or other medical problems during the first few years of life. Common medical problems that have been reported early in life for patients can include feeding difficulties, seizures, or differences in body structures such as a heart defect. Many patients have some common facial features to each other such as a broader nose or a thinner upper lip.
Most patients experience delays in their development and require developmental therapies such as speech therapy or physical therapy. Some patients have very limited speech and motor skills, and they may communicate nonverbally or use a wheelchair. Other patients do achieve some speech and are able to walk independently, but they will likely achieve these skills at a later age than their similarly aged peers. Most patients receive a diagnosis of intellectual disability when they are older, which is often classified as moderate-severe but has been reported to be mild in some patients. It is not currently well-understood why some patients achieve more developmental milestones than others, and there is not a specific test or evaluation that can predict if or when a child will achieve certain developmental milestones.
The medical concerns that are most common in patients with OTUD6B-associated syndrome are seizures and other neurologic concerns such as low muscle tone or issues with walking and balance. Many patients also have feeding or digestive concerns, such as reflux or constipation. Patients may be small compared to other children of their age or have short stature, especially if they have feeding difficulties. A smaller number of patients have differences in their body structure that may need to be managed by a specialist, such as a heart defect or a kidney defect. Many patients have dental concerns such as small or crowded teeth. Some patients have minor differences in their bones such as scoliosis (curving of the spine).
There have not been enough patients described with OTUD6B-associated syndrome to have a strong understanding of whether patients have a shorter than average life expectancy. There are known patients of adult ages with OTUD6B-associated syndrome. Life expectancy is likely influenced by the type and severity of medical complications experienced by the patient, and it is therefore important that patients follow closely with their doctors for management of any health complications that they have.
OTUD6B