Overview
Blepharofacioskeletal syndrome is an extremely rare genetic condition that affects multiple parts of the body, particularly the eyelids, face, and skeleton. The name comes from 'blepharo' (eyelid), 'facio' (face), and 'skeletal' (bones). People with this syndrome are typically born with distinctive facial features, including droopy eyelids (ptosis), a broad or flat nasal bridge, and underdeveloped facial bones. Skeletal abnormalities may include short stature, joint problems, and abnormalities of the hands and feet. This condition is present from birth and may also involve intellectual disability or developmental delays in some cases. Additional features can include dental abnormalities, hearing problems, and vision issues related to the eyelid malformations. Because the syndrome affects several body systems, patients often need care from multiple specialists. There is currently no cure for blepharofacioskeletal syndrome. Treatment focuses on managing individual symptoms. Surgery may be needed to correct eyelid drooping or skeletal problems. Physical therapy, occupational therapy, and educational support can help children reach their full potential. Because so few cases have been reported in the medical literature, much about this condition remains poorly understood, and treatment approaches are tailored to each patient's specific needs.
Also known as:
Key symptoms:
Droopy eyelids (ptosis)Flat or broad nasal bridgeUnderdeveloped facial bonesShort statureJoint stiffness or limited movementAbnormalities of the hands or feetIntellectual disability or learning difficultiesDental abnormalitiesHearing problemsVision difficultiesWidely spaced eyesSmall jawDelayed growth and development
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 Blepharofacioskeletal syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Blepharofacioskeletal syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Blepharofacioskeletal 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 Blepharofacioskeletal 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 features of this syndrome does my child have, and how severe are they?,Is genetic testing recommended for our family, and what might it tell us?,Does my child need surgery for the eyelid drooping, and when is the best time?,What therapies (physical, occupational, speech) would benefit my child most?,How often should we schedule follow-up visits with each specialist?,Are there any complications we should watch for as my child grows?,What educational supports or accommodations should we request at school?
Common questions about Blepharofacioskeletal syndrome
What is Blepharofacioskeletal syndrome?
Blepharofacioskeletal syndrome is an extremely rare genetic condition that affects multiple parts of the body, particularly the eyelids, face, and skeleton. The name comes from 'blepharo' (eyelid), 'facio' (face), and 'skeletal' (bones). People with this syndrome are typically born with distinctive facial features, including droopy eyelids (ptosis), a broad or flat nasal bridge, and underdeveloped facial bones. Skeletal abnormalities may include short stature, joint problems, and abnormalities of the hands and feet. This condition is present from birth and may also involve intellectual disabi
How is Blepharofacioskeletal syndrome inherited?
Blepharofacioskeletal syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Blepharofacioskeletal syndrome typically begin?
Typical onset of Blepharofacioskeletal syndrome is neonatal. Age of onset can vary across affected individuals.