Autism with port-wine stain

Definition

This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.

Epidemiology

So far, the syndrome has been described in four children.

Diagnosis

The initial diagnosis was Sturge-Weber syndrome , despite the absence of leptomeningeal angiomatosis which is one of the hallmarks of this disease.

NIH genetic and rare disease info

• NIH info on Autism with port-wine stain

Autism with port-wine stain is a rare disease.

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