Paula and Bobby
Parents of Lillie
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.
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 does someone get tested for Skraban-Deardorff syndrome?
The initial testing for Skraban-Deardorff syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
What is FDNA Telehealth?
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