Disease & disorder

autism-facial port-wine stain syndrome

MONDO:0015311

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

Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms1

Disease research snapshot

No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.

Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.

Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Background context

Autism with port-wine stain syndrome

Autism with port-wine stain syndrome is a very rare genetic disorder which is characterized by the unilateral presence of a port-wine stain, autism/autistic-like behaviour that is associated with social awkwardness, developmental delays, and language/speech delay, and epilepsy. Additional findings include generalized cerebral glucose hypometabolism. It has been described in four un-related children.

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

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How to interpret this record

CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.