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Autism-facial port-wine stain syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Infancy
ICD-10 -
MeSH -
MedDRA -


Disease 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.


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

Diagnostic methods

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

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