Stickler syndrome

Stickler syndrome

Stickler syndrome is a genetic condition that affects the body’s connective tissue — it is a heritable connective tissue disorder (HCTD). Connective tissue is the material that supports your eyes, ears, joints, and face for example. 

Stickler syndrome can run in families and shows up in many different ways. Most people with Stickler syndrome have some combination of eye issues/manifestations, hearing loss, joint issues, and facial features like a small jaw or cleft palate.

Key signs and symptoms

Eyes:

• People with Stickler syndrome are usually very short-sighted (high myopia) from a young age.
• The clear gel inside the eye (called the vitreous) may look different and can cause eye problems.
• There is a higher risk of the retina pulling away (retinal detachment), which can lead to serious vision loss or blindness if not treated quickly.
• Other eye issues may include cataracts (clouding of the lens) and glaucoma (increased eye pressure)

Key to improved outcomes is early identification, to allow surveillance monitoring  and timely interventions as required; preventive care can help preserve eyesight.

Ears:

• Hearing loss is common and may get worse over time, ranging from mild to severe.
• Some people have inner ear hearing loss (sensorineural), while others have middle ear hearing problems (conductive)

Face and mouth:

• People with Stickler syndrome may have a flat-looking face because of underdeveloped facial bones.
• Some may have a cleft palate (an opening in the roof of the mouth) or a small lower jaw, which can cause breathing and feeding difficulties, especially in newborn

Joints and bones:

• Many people have flexible joints (generalised joint hypermobility) and may develop joint pain or early arthritis, and joint damage.
• Problems with the spine, hips, or knees are also common and might need medical care or surgery.

Genetics

Stickler syndrome is caused by changes (mutations) in certain genes, usually those that help make collagen, a protein that gives strength and structure to the body’s connective tissues.

• The most common genes involved are COL2A1, COL11A1, and COL11A2.
• Most people inherit Stickler syndrome from a parent, but sometimes it can occur for the first time in a family (this is called a de novo, or spontaneous mutation).
• There are different types of Stickler syndrome, depending on which gene is affected

Diagnosis

Stickler syndrome can be hard to spot because the symptoms vary so much.

• Eye tests and hearing tests are often key in recognising the condition.
• Genetic testing can confirm the diagnosis and find out which type of Stickler syndrome a person has

Treatment

There is no cure, but many of the symptoms can be managed well and early identification, and diagnosis allows for early interventions and surveillance which is critical to improving patient health outcomes and quality of life.

Eyes: Preventative treatments like laser surgery or cryotherapy can lower the risk of retinal detachment. Regular check-ups with an eye specialist are very important.

Ears: Hearing aids or surgery may help with hearing loss.

Joints: Pain can often be managed with physiotherapy, exercise, or sometimes surgery if needed.

Face and mouth: Surgery may help with cleft palate or jaw problems. Some children may need support with feeding, breathing, or speech.

A team of specialists (eye doctors, ear doctors, speech therapists, geneticists, and physiotherapists) usually work together to care for people with Stickler syndrome

Early diagnosis, why it matters

Spotting Stickler syndrome early can help prevent serious problems like blindness or hearing loss. It also means families can get the right care sooner, including support for feeding, speech, learning, and physical activity.

Support

Living with Stickler syndrome can be challenging at times, but support is available. It’s helpful to:

• See specialists regularly for routine screening and surveillance, engage regular with you GP for routine care and review
• Talk to a genetic counsellor if you’re planning a family
• Join a support group — to connect with others who understand what it’s like living with, or caring for someone with Stickler syndrome
• Look after your mental health, especially if you’re adjusting to a new diagnosis or facing surgery

Stickler syndrome in Australia 

• Stickler syndrome is a rare disease, as such people living with, or otherwise impacted by Stickler syndrome can contact The Rare Helpline, a telephone based support service operated by Rare Voices Australia’s (RVA). 
• CTDNA is working to raise awareness of Stickler syndrome and other HCTDs, to advocate for care pathways that are better coordinated, and support individuals and families impacted by these conditions via the provision of education and information.
• Please review our Resources page for more useful information and links. 
• For more information about Stickler syndrome, research updates, and global community resources, visit the larger international patient advocacy group, The Marfan Foundation’s website, which has a detailed page on Stickler syndrome.

You can also find support and resources at:

• Stickler Syndrome – MedlinePlus Genetics
• Stickler Syndrome – NORD

References

1. Snead MP, Martin H, Bale P, et al. Therapeutic and diagnostic advances in Stickler syndrome. Ther Adv Rare Dis. 2020;1:1–13.
2. MedlinePlus Genetics. Stickler syndrome. National Library of Medicine. Available from: https://medlineplus.gov/genetics/condition/stickler-syndrome/
3. Britten-Jones AC, Ayton LN, Graydon K, et al. Clinician awareness of Stickler syndromes among Australian allied health care professionals. J Multidiscip Healthc. 2024;17:1755–1768.
4. National Organization for Rare Disorders (NORD). Stickler Syndrome. Available from: https://rarediseases.org/rare-diseases/stickler-syndrome/