Overview
Blepharophimosis-intellectual disability syndrome (also known as BMRS or Blepharophimosis-intellectual disability syndrome, Ohdo type) is a very rare genetic condition that affects multiple parts of the body. The hallmark features include blepharophimosis, which means the eye openings are abnormally narrow, combined with intellectual disability of varying degrees. People with this condition often have distinctive facial features such as a flat or mask-like face, a small nose, and small mouth. The eyelids may appear droopy (ptosis), and the distance between the eyes may be altered. Intellectual disability can range from mild to severe, and affected individuals may experience delays in speech and motor development. Some people also have hearing loss, heart defects, and dental abnormalities. The condition is present from birth, and the facial features are usually noticeable early in life. There are several subtypes of this syndrome, including the Ohdo type (also called Say-Barber-Biesecker-Young-Simpson syndrome when caused by KAT6B mutations) and other forms. Treatment is supportive and focuses on managing individual symptoms. This may include surgery to correct eyelid abnormalities, hearing aids for hearing loss, cardiac care if heart defects are present, and educational support and therapies to help with developmental delays. There is currently no cure, but early intervention can significantly improve quality of life.
Key symptoms:
Narrow eye openings (blepharophimosis)Droopy eyelids (ptosis)Intellectual disabilityDelayed speech developmentDelayed motor milestonesFlat or mask-like facial appearanceSmall nose with a flat bridgeSmall mouthHearing lossHeart defects present at birthDental abnormalitiesLow muscle toneShort statureFeeding difficulties in infancyBehavioral differences
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Blepharophimosis-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Blepharophimosis-intellectual disability 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 Blepharophimosis-intellectual disability 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 subtype of blepharophimosis-intellectual disability syndrome does my child have?,Should we pursue genetic testing, and what gene or genes should be tested?,What therapies should we start right away to support development?,Does my child need a heart evaluation or hearing test?,When should eyelid surgery be considered, and what are the risks and benefits?,What is the expected developmental trajectory for my child's specific case?,Are there any clinical trials or research studies we should know about?
Common questions about Blepharophimosis-intellectual disability syndrome
What is Blepharophimosis-intellectual disability syndrome?
Blepharophimosis-intellectual disability syndrome (also known as BMRS or Blepharophimosis-intellectual disability syndrome, Ohdo type) is a very rare genetic condition that affects multiple parts of the body. The hallmark features include blepharophimosis, which means the eye openings are abnormally narrow, combined with intellectual disability of varying degrees. People with this condition often have distinctive facial features such as a flat or mask-like face, a small nose, and small mouth. The eyelids may appear droopy (ptosis), and the distance between the eyes may be altered. Intellectua
At what age does Blepharophimosis-intellectual disability syndrome typically begin?
Typical onset of Blepharophimosis-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.