Overview
Blepharophimosis-radioulnar synostosis syndrome is an extremely rare genetic condition that combines two main physical features: blepharophimosis and radioulnar synostosis. Blepharophimosis means the eye openings (palpebral fissures) are abnormally narrow and small, giving the eyes a squinted appearance. Radioulnar synostosis means that the two bones of the forearm — the radius and the ulna — are fused together, which limits the ability to rotate the forearm (such as turning the palm up or down). This condition is present from birth and is typically noticed in early infancy due to the distinctive facial appearance and limited arm movement. It is important to note that this condition has been classified as 'OBSOLETE' in the Orphanet database, meaning it may have been reclassified, merged with another condition, or its existence as a distinct syndrome has been questioned based on updated medical knowledge. Very few cases have been described in the medical literature, making it difficult to fully characterize the syndrome. Because of its rarity, there is no specific cure or targeted treatment. Management focuses on addressing individual symptoms — for example, surgery may be considered for the eyelid abnormality to improve vision and appearance, and occupational therapy or surgical intervention may help with forearm function. Patients and families should work closely with a clinical geneticist to clarify the diagnosis and explore whether the condition may fall under a broader or updated diagnostic category.
Also known as:
Key symptoms:
Narrow eye openings (small palpebral fissures)Droopy eyelids (ptosis)Fusion of the forearm bones (inability to rotate the forearm)Limited ability to turn the palm up or downShort stature in some casesFacial features that appear unusual or distinctiveDifficulty with fine motor tasks involving the hands and arms
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 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Blepharophimosis-radioulnar synostosis 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 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome.
Start the conversation →Latest news about OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome
No recent news articles for OBSOLETE: Blepharophimosis-radioulnar synostosis 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.Is this diagnosis still considered valid, or has it been reclassified under a different syndrome?,Should we pursue whole exome sequencing or other advanced genetic testing?,When is the best time to consider eyelid surgery for my child?,What are the surgical options for the fused forearm bones, and what outcomes can we expect?,What kind of occupational therapy would be most helpful?,What is the chance of passing this condition to future children?,Are there any other health problems we should screen for?
Common questions about OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome
What is OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome?
Blepharophimosis-radioulnar synostosis syndrome is an extremely rare genetic condition that combines two main physical features: blepharophimosis and radioulnar synostosis. Blepharophimosis means the eye openings (palpebral fissures) are abnormally narrow and small, giving the eyes a squinted appearance. Radioulnar synostosis means that the two bones of the forearm — the radius and the ulna — are fused together, which limits the ability to rotate the forearm (such as turning the palm up or down). This condition is present from birth and is typically noticed in early infancy due to the distinct
How is OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome inherited?
OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome typically begin?
Typical onset of OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome is neonatal. Age of onset can vary across affected individuals.