Overview
Basel-Vanagaite-Smirin-Yosef syndrome (also known as BVSYS) is an extremely rare genetic condition that affects multiple body systems from birth. It was first described in medical literature relatively recently and is caused by changes in the MARK3 gene. The syndrome is characterized by a combination of intellectual disability, distinctive facial features, and problems with the skin, hair, nails, and teeth (called ectodermal features). Children born with this condition typically show developmental delays, meaning they are slower to reach milestones like sitting, walking, and talking compared to other children their age. Key features of the syndrome include sparse or thin hair, abnormal or missing teeth, nail abnormalities, and unusual facial characteristics such as a broad nose, thick lips, and widely spaced eyes. Many affected individuals also have skeletal abnormalities and may experience seizures. The severity of symptoms can vary from person to person. There is currently no cure for Basel-Vanagaite-Smirin-Yosef syndrome. Treatment focuses on managing individual symptoms and supporting development. This may include special education services, physical therapy, occupational therapy, speech therapy, dental care, and dermatological management. Seizures, if present, are treated with anti-seizure medications. A team of specialists working together provides the best care for affected individuals.
Key symptoms:
Intellectual disabilityDelayed development (slow to walk, talk, and learn)Sparse or thin hairAbnormal or missing teethNail abnormalitiesDistinctive facial features (broad nose, thick lips, widely spaced eyes)SeizuresSkin abnormalitiesShort statureSkeletal abnormalitiesLow muscle tone (floppy muscles)Feeding difficulties in infancySpeech and language delays
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Basel-Vanagaite-Smirin-Yosef syndrome.
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Specialists
View all specialists →No specialists are currently listed for Basel-Vanagaite-Smirin-Yosef 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 Basel-Vanagaite-Smirin-Yosef syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.What specific genetic change was found, and what does it mean for my child?,What developmental milestones should we watch for, and when should we be concerned?,What therapies (speech, physical, occupational) should we start, and how often?,Does my child need to be monitored for seizures, and what should I do if one occurs?,What dental care will my child need, and when should we start?,Are there any clinical trials or research studies we could participate in?,What is the chance of having another child with this condition?
Common questions about Basel-Vanagaite-Smirin-Yosef syndrome
What is Basel-Vanagaite-Smirin-Yosef syndrome?
Basel-Vanagaite-Smirin-Yosef syndrome (also known as BVSYS) is an extremely rare genetic condition that affects multiple body systems from birth. It was first described in medical literature relatively recently and is caused by changes in the MARK3 gene. The syndrome is characterized by a combination of intellectual disability, distinctive facial features, and problems with the skin, hair, nails, and teeth (called ectodermal features). Children born with this condition typically show developmental delays, meaning they are slower to reach milestones like sitting, walking, and talking compared t
How is Basel-Vanagaite-Smirin-Yosef syndrome inherited?
Basel-Vanagaite-Smirin-Yosef syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Basel-Vanagaite-Smirin-Yosef syndrome typically begin?
Typical onset of Basel-Vanagaite-Smirin-Yosef syndrome is neonatal. Age of onset can vary across affected individuals.