Skraban-Deardorff syndrome

WDR26-related intellectual disability


Type of disease: Rare Condition or Disease

Skraban-Deardorff syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, seizures, neurological differences and subtle facial differences. People with Skraban-Deardorff syndrome have varying degrees of developmental delays and intellectual disabilities, ranging from mild to severe. Speech delays and delays in the development of motor skills are typical in children with Skraban-Deardorff syndrome, some have also received a diagnosis of autism spectrum disorder.
Diagnosis is made with whole exome sequencing. Currently, there is no specific treatment for Skraban-Deardorff syndrome, care focuses on the individual’s symptoms. Early therapy is encouraged (physical, occupational, speech therapy) to ensure that the child achieves to the best of their abilities.

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