What is the primary feature of Sturge-Weber syndrome?

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The primary feature of Sturge-Weber syndrome is characterized by a large birthmark, typically a facial capillary malformation known as a port-wine stain, that is associated with neurological complications including seizures. This syndrome is a neurocutaneous disorder resulting from a somatic mutation affecting the development of blood vessels, leading to vascular malformations in the brain and skin.

The presence of the birthmark is often one of the most visible signs of the condition and tends to be located in the distribution area of the trigeminal nerve. Individuals with Sturge-Weber syndrome frequently experience seizures due to the underlying brain abnormalities, which can complicate the clinical picture.

Other features, such as developmental delays and cognitive issues, may also occur but are secondary to the more prominent and definitive presentation of the birthmark and associated neurological symptoms. Therefore, the identification of the large birthmark is fundamental in diagnosing Sturge-Weber syndrome.

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