raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:137911

Autism-facial port-wine stain syndrome

inactive · moved to ORPHA:3205Sturge-Weber syndrome

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sturge-Weber syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAutism-facial port-wine stain syndrome
frSyndrome d'autisme-angiome facial
deAutismus-fazialer Portwein-Nävus-Syndrom
esSíndrome de autismo-mancha facial en vino de Oporto
itAutismo - nevo vinoso facciale
nlAutisme - faciale wijnvlek-syndroomAutisme - faciale naevus flammeus-syndroom
ptSíndrome de autismo-mancha facial vinho do porto
plAutyzm - znamię naczyniowe twarzy typu "port-wine stain
csSyndrom zahrnující autismus a faciální naevus flammeus
ukСиндром аутизму-портвейнової плями обличчя
zh孤独症-面部葡萄酒色斑综合征
trOtizm-yüz porto şarabı lekesi sendromu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
GARD10303Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card