Overview
Blepharophimosis-intellectual disability syndrome, MKB type (also known as MKB syndrome, named after the initials of the researchers who first described it) is an extremely 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 may also have distinctive facial features, short stature, and other developmental differences. The syndrome typically becomes apparent at birth or during early infancy, when the narrow eye openings and unusual facial features are first noticed. Intellectual disability may range from mild to moderate, and affected children often experience delays in reaching developmental milestones such as sitting, walking, and speaking. Some individuals may also have additional physical findings such as small head size (microcephaly), ear abnormalities, and skeletal differences. Because this condition is so rare, there is no specific cure or targeted treatment available. Management focuses on addressing individual symptoms and supporting development. This may include special education services, speech therapy, occupational therapy, and surgical correction of eye abnormalities if needed. Regular follow-up with multiple specialists is important to monitor growth, development, and any associated health concerns.
Also known as:
Key symptoms:
Narrow eye openings (blepharophimosis)Intellectual disabilityDelayed speech and language developmentShort statureSmall head sizeDistinctive facial featuresDelayed motor milestonesEar abnormalitiesDroopy eyelids (ptosis)Learning difficultiesWidely spaced eyesFlat nasal bridge
Clinical phenotype terms (8)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Blepharophimosis-intellectual disability syndrome, MKB type.
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Specialists
View all specialists →No specialists are currently listed for Blepharophimosis-intellectual disability syndrome, MKB type.
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, MKB type.
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 is the severity of my child's blepharophimosis, and will surgery be needed?,What developmental therapies should we start, and how soon?,Should we pursue genetic testing such as whole exome sequencing to confirm the diagnosis?,What is the expected range of intellectual ability for my child?,Are there any other health problems we should screen for?,How often should we schedule follow-up visits with each specialist?,Are there any clinical studies or research programs we could participate in?
Common questions about Blepharophimosis-intellectual disability syndrome, MKB type
What is Blepharophimosis-intellectual disability syndrome, MKB type?
Blepharophimosis-intellectual disability syndrome, MKB type (also known as MKB syndrome, named after the initials of the researchers who first described it) is an extremely 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 may also have distinctive facial features, short stature, and other developmental differences. The syndrome typically becomes apparent at birth or during early infancy, when the
How is Blepharophimosis-intellectual disability syndrome, MKB type inherited?
Blepharophimosis-intellectual disability syndrome, MKB type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Blepharophimosis-intellectual disability syndrome, MKB type typically begin?
Typical onset of Blepharophimosis-intellectual disability syndrome, MKB type is neonatal. Age of onset can vary across affected individuals.