What is Skraban-Deardorff syndrome?
It is a rare neurodevelopment syndrome. Intellectual disability and developmental delay are characteristic of the syndrome. Seizures and distinct facial features are also associated with the syndrome.
It is also referred to as WDR26-related intellectual disability.
This syndrome is also known as:
Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features
What gene changes cause Skraban-Deardorff syndrome?
Mutations in the WDR26 gene are responsible for causing the syndrome.
It is inherited in an autosomal dominant pattern.
What are the main symptoms of Skraban-Deardorff syndrome?
Developmental delay and intellectual disability are the main features of the syndrome. The extent of the delay may vary in its severity between affected individuals, and range from mild to severe. However, all individuals experience speech delay with many never learning to speak. A few affected individuals begin to speak in their second year of life.
In some instances, individuals have also been diagnosed with autism-like features, including specific behaviors that include rocking and abnormal hand movements.
Seizures are a common symptom, but most if not all of the seizures that occur are treatable.
How is it diagnosed?
To find out if someone has a diagnosis of Skraban-Derdorff syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
