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Autism-facial port-wine stain syndrome
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.
ORPHA:137911Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Neonatal
- ICD-10: -
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 10303
- MedDRA: -
So far, the syndrome has been described in four children.
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.