Early symptoms of Stickler syndrome

The early symptoms of Stickler syndrome usually appear during infancy or childhood, and they affect vision, hearing, joints and mouth.

Stickler syndrome symptoms


·         Severe myopia.

·         Cataracts.

·         Glaucoma.

·         Astigmatism.

·         Strabismus.

·         Retinal detachments.


·         Hearing loss.

·         Recurring ear infections.

Bones and joints

·         Overly flexible joints.

·         Enlarged joints.

·         Knock knees.

·         Legg-Calve-Perthes disease.

·         Stiff joints.

·         Short stature.

·         Relatively long arms and legs.

·         Abnormal curvatures of the spine. Osteoarthritis.

Face and mouth

·         Flat cheeks and nasal bridge.

·         Split uvula.

·         Orthodontic problems.

·         Small jaw.

·         Cleft palate.

·         Pierre-Robin sequence (small jaw, cleft palate, tongue placement abnormalities and breathing and feeding difficulties).


Also called hereditary progressive arthro-ophthalmopathy, Stickler syndrome is a genetic condition caused by a changed in 1 of 3 collagen genes. Collagen makes up the connective tissue that enables the muscles to stretch and contract. In the case of Stickler syndrome, the connective tissue of the eye is affected, as well as the epiphysis – the ends of the bones that make up the joints. Only one parent has to have one mutated collagen gene for a child to have a 50% of being born with Stickler syndrome.

Stickler syndrome is present since birth, but often goes mis- or under- or belatedly diagnosed, especially if the initial symptoms are mild. However, this is a progressive condition, meaning that the symptoms may worsen with time and eventually lead to such complications as:

·         Breathing or feeding problems.

·         Blindness.

·         Ear infections.

·         Deafness.

·         Heart problems.

·         Dental issues.

Doctors may sometimes notice the early symptoms of Stickler syndrome immediately following birth. Other times, physical and eye exams, as well as imaging and hearing tests may be required. Either way, early detection is key to prevent more serious symptoms and complications. There is no cure for Stickler but several treatment alternatives are available to manage the symptoms.

Treatment for Stickler syndrome


OTC pain-relieving drugs like ibuprofen and naproxen.

·         For swelling, stiffness, and pain in the joints.

Glaucoma medication

·         To control pressure within the eyes.


Speech therapy

·         If hearing loss interferes with ability to learn how to pronounce certain sounds.

Physical therapy

·         May help with mobility problems related to joint pain and stiffness.

·         Medical supplies such as braces, canes and arch supports may be of help as well.

Hearing aids

·         May improve quality of life.




·         To open a hole in the throat and enable breathing.

·         May be reversed when the child has grown.


Jaw surgery

·         To lengthen the lower jaw by breaking the jawbone and implanting a device that will gradually stretch the bone as it heals.


Cleft palate repair

·         To stretch tissue from the roof of the mouth and cover the cleft palate.


Ear tubes

·         A short plastic tube in the eardrum to help reduce frequency and severity of ear infections.


Joint replacement

·         In case of early-onset arthritis.


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