Overview
Jung syndrome, also known as Jung-Bhatt-Bhatt syndrome or blepharophimosis with ptosis, syndactyly, and short stature, is an extremely rare genetic condition that affects multiple parts of the body. It was first described in the medical literature and is characterized by a combination of eye, hand, and growth abnormalities. People with Jung syndrome typically have narrow eye openings (blepharophimosis) and drooping eyelids (ptosis), which can affect vision and facial appearance. They may also have webbing or fusion of fingers or toes (syndactyly) and shorter-than-expected height (short stature). Additional features can include other skeletal differences and mild developmental concerns. Because this condition is so rare, with only a handful of cases reported in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment is still limited. Treatment is mainly supportive and focused on managing individual symptoms, such as surgery for eyelid or hand abnormalities. A team of specialists is usually needed to provide comprehensive care. There is currently no cure for Jung syndrome, and management focuses on improving quality of life and addressing specific medical needs as they arise.
Key symptoms:
Narrow eye openings (blepharophimosis)Drooping eyelids (ptosis)Webbing or fusion of fingers or toes (syndactyly)Short statureBroad nasal bridgeFlat midfaceSmall jawLow-set earsSkeletal abnormalitiesPossible mild intellectual disability
Clinical phenotype terms (17)— 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 Jung syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Jung syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Jung 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 Jung syndrome.
Community
No community posts yet. Be the first to share your experience with Jung syndrome.
Start the conversation →Latest news about Jung syndrome
No recent news articles for Jung syndrome.
Follow this condition to be notified when news becomes available.
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 Jung syndrome does my child have, and how severe are they?,Is surgery recommended for the eyelid drooping or finger/toe webbing, and when is the best time?,Should we pursue genetic testing to try to identify the exact genetic cause?,What specialists should we see regularly, and how often?,Are there any vision concerns we should watch for?,Will my child's growth be significantly affected, and should we see an endocrinologist?,What is the chance of having another child with this condition?
Common questions about Jung syndrome
What is Jung syndrome?
Jung syndrome, also known as Jung-Bhatt-Bhatt syndrome or blepharophimosis with ptosis, syndactyly, and short stature, is an extremely rare genetic condition that affects multiple parts of the body. It was first described in the medical literature and is characterized by a combination of eye, hand, and growth abnormalities. People with Jung syndrome typically have narrow eye openings (blepharophimosis) and drooping eyelids (ptosis), which can affect vision and facial appearance. They may also have webbing or fusion of fingers or toes (syndactyly) and shorter-than-expected height (short stature
How is Jung syndrome inherited?
Jung syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Jung syndrome typically begin?
Typical onset of Jung syndrome is neonatal. Age of onset can vary across affected individuals.