Stickler syndrome

What is Stickler syndrome?

Stickler is a hereditary, progressive group of syndromes. This means symptoms associated with, and triggered by this rare disease worsen over time.

Symptoms may vary widely in their type and severity between individuals. However the most serious features of the syndrome can cause vision and hearing impairment, as well as problems with the joints.

Individuals with the syndrome have abnormal amounts of collagen which mainly affects auditory, ocular, skeletal, and orofacial abnormalities. Often individuals with the syndrome have a flattened facial appearance.

What gene changes cause Stickler syndrome?

Mutations in six genes are responsible for the syndrome. These genes include COL2A1, COL11A1, COL9A1, COL9A2, COL9AE.

Depending on the gene mutation, this rare disease can be inherited in an autosomal dominant or autosomal recessive pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Stickler syndrome?

The main symptoms include numerous eye and vision problems. These include myopia, retinal detachment, cataracts, astigmatism, crossed eyes, and glaucoma.

Recurrent and frequent ear infections are also a symptom and can lead to inner hearing loss.

Other health conditions mainly affect the joints- including joint pain, loose joints, osteoarthritis and the development of arthritis at a very young age, scoliosis and hip degeneration.

Unique facial features include flat cheeks and nasal bridge. A small jaw and split uvula. Pierre-Robin sequence is also associated with the syndrome and this means a cleft palate, small chin and a tongue positioned further back in the mouth.

How does someone get tested for Stickler syndrome?

The initial testing for Stickler syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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