The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 137911
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.
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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