Overview
Autism-facial port-wine stain syndrome is an extremely rare condition that combines features of autism spectrum disorder with a port-wine stain birthmark on the face. A port-wine stain is a flat, reddish-purple mark on the skin caused by abnormal blood vessels near the surface. In this syndrome, the port-wine stain appears on the face and is accompanied by autism spectrum disorder, which affects how a person communicates, interacts socially, and behaves. Children with this condition may show delays in speech and language development, difficulty with social interactions, and repetitive behaviors. Some individuals may also have intellectual disability or learning difficulties of varying degrees. Because this syndrome is so rare, it is not well characterized in the medical literature, and only a small number of cases have been described. The exact cause remains unclear, and there is no single genetic mutation that has been firmly established as responsible. Treatment is supportive and focuses on managing the individual symptoms. Behavioral therapies, speech therapy, and educational support are commonly used for the autism-related features. The port-wine stain can be treated with laser therapy, most commonly pulsed dye laser, to lighten the birthmark. A team of specialists is usually needed to provide comprehensive care.
Key symptoms:
Port-wine stain birthmark on the faceAutism spectrum disorderDelayed speech and language developmentDifficulty with social interactionsRepetitive behaviors or restricted interestsIntellectual disability or learning difficultiesSensory sensitivitiesBehavioral challengesDifficulty making eye contactDelayed developmental milestones
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Autism-facial port-wine stain syndrome.
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Specialists
View all specialists →No specialists are currently listed for Autism-facial port-wine stain syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autism-facial port-wine stain syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Should my child have brain imaging to rule out Sturge-Weber syndrome or other related conditions?,What genetic testing would you recommend to better understand the cause?,What early intervention therapies should we start, and how often?,When should we begin laser treatment for the port-wine stain?,Are there any medications that could help with behavioral challenges?,Should my child see an ophthalmologist to check for eye-related issues?,What educational supports should we request at school?
Common questions about Autism-facial port-wine stain syndrome
What is Autism-facial port-wine stain syndrome?
Autism-facial port-wine stain syndrome is an extremely rare condition that combines features of autism spectrum disorder with a port-wine stain birthmark on the face. A port-wine stain is a flat, reddish-purple mark on the skin caused by abnormal blood vessels near the surface. In this syndrome, the port-wine stain appears on the face and is accompanied by autism spectrum disorder, which affects how a person communicates, interacts socially, and behaves. Children with this condition may show delays in speech and language development, difficulty with social interactions, and repetitive behavior
At what age does Autism-facial port-wine stain syndrome typically begin?
Typical onset of Autism-facial port-wine stain syndrome is neonatal. Age of onset can vary across affected individuals.