Overview
Stickler syndrome (also known as hereditary arthro-ophthalmopathy or Stickler dysplasia) is a group of inherited connective tissue disorders caused by defects in collagen genes. Because collagen is a major structural protein found throughout the body, Stickler syndrome affects multiple organ systems, including the eyes, skeleton, joints, and craniofacial structures. It is one of the most common inherited connective tissue disorders and is a leading cause of retinal detachment in children. Key clinical features include ocular abnormalities such as high myopia (severe nearsightedness), vitreous anomalies, cataracts, and an increased risk of retinal detachment and glaucoma. Craniofacial features may include midface hypoplasia (flattened facial profile), Pierre Robin sequence (micrognathia, cleft palate, and glossoptosis), and sensorineural or conductive hearing loss. Skeletal manifestations include joint hypermobility in childhood that often progresses to premature osteoarthritis, spondyloepiphyseal dysplasia, and mild short stature in some individuals. Cleft palate, with or without Pierre Robin sequence, is present in many affected individuals. Stickler syndrome is classified into several subtypes based on the specific gene involved. The most common form, type 1, is caused by mutations in the COL2A1 gene, while type 2 involves COL11A1, and type 3 (non-ocular Stickler syndrome) involves COL11A2. Rarer autosomal recessive forms involve COL9A1, COL9A2, COL9A3, and LRP2. There is currently no cure for Stickler syndrome. Management is multidisciplinary and includes regular ophthalmologic surveillance with prophylactic treatment to prevent retinal detachment, audiologic monitoring and hearing aids if needed, orthopedic management for joint problems, and surgical correction of cleft palate or other craniofacial anomalies. Early diagnosis and proactive monitoring significantly improve outcomes.
Also known as:
Clinical phenotype terms— hover any for plain English:
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsHelen Keller Eye Research Foundation — NA
Assistance Publique - Hôpitaux de Paris — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Stickler syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Stickler syndrome.
Community
No community posts yet. Be the first to share your experience with Stickler syndrome.
Start the conversation →Latest news about Stickler syndrome
Disease timeline:
New recruiting trial: Retinal Detachment Prevention (Laser Prophylaxis) in Stickler Syndrome (SS)
A new clinical trial is recruiting patients for Stickler syndrome
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.
Common questions about Stickler syndrome
What is Stickler syndrome?
Stickler syndrome (also known as hereditary arthro-ophthalmopathy or Stickler dysplasia) is a group of inherited connective tissue disorders caused by defects in collagen genes. Because collagen is a major structural protein found throughout the body, Stickler syndrome affects multiple organ systems, including the eyes, skeleton, joints, and craniofacial structures. It is one of the most common inherited connective tissue disorders and is a leading cause of retinal detachment in children. Key clinical features include ocular abnormalities such as high myopia (severe nearsightedness), vitreous
At what age does Stickler syndrome typically begin?
Typical onset of Stickler syndrome is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Stickler syndrome?
Yes — 1 recruiting clinical trial is currently listed for Stickler syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Stickler syndrome?
4 specialists and care centers treating Stickler syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.