Stickler syndrome, also called Marshall-Stickler syndrome, is a genetic disease caused by the occurrence of mutations in the genes encoding collagens (COL2A1, COL11A1, COL11A2). It is an inherited condition that affects the collagen (connecting tissue) and manifests itself during childhood. This condition would be the cause of a genetic defect of three possible chromosomes, one, six or twelve. It is estimated that one in 7,500-9,000 people are affected by Stickler Syndrome. Many would suffer from this condition but without an established diagnosis. The risk of passing the syndrome from parents to children is estimated at 50 percent.
Hearing, vision, heart, bone, and ligament problems are often associated with Stickler’s syndrome. Its incidence is approximately 1 in 10,000.
Collagens are structural proteins found in varying proportions in different tissues of the human body including the eye (vitreous) and the skeleton (cartilage). Depending on the genetic defect, the transmission of the disease, its expression, its evolution and its characteristics are variable.
Ophthalmological involvement: frequent, it is characterized by strong myopia present early in infants, and by vitreoretinal degeneration responsible for frequent retinal detachments: the vitreous (gel filling the eye cavity) has a structure highly organized protein. The alteration of a single collagen subtype compromises the entire structure. This results in traction phenomena on the surface of the retina causing tears and detachments of the retina. Earlier cataracts and glaucoma can also be seen.
- Skeletal involvement: hyperlaxity causes joint dislocation and early osteoarthritis.
- ENT involvement: hypoacusis, cleft palate, dental abnormalities …
Symptoms of stickler syndrome
Stickler Syndrome includes:
- Features in the face, such as a flat face or a small nose and small chin.
- Hearing loss
- Early ligament disease
- Perforation of the palate
- Mitral valve prolapse
The severity and number of symptoms vary from case to case. Some symptoms may not be present at birth but may appear later.
The hearing loss associated with Stickler Syndrome originates in the inner ear. Total deafness can occur in extreme cases.
When to see a doctor
Regular follow-up visits, also as yearly visits to doctors specializing in eye disorders, are crucial to watch any progression of symptoms. Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 then yearly thereafter.
Stickler syndrome is caused by mutations in certain genes involved within the formation of collagen — one among the building blocks of the many sorts of connective tissues. The sort of collagen most ordinarily affected is that wont to produce joint cartilage and therefore the jellylike material (vitreous) found within the eyes.
Your child is more likely to change state with Stickler syndrome if either you or your partner has the disorder.
Potential complications of Stickler syndrome include:
- Difficulty breathing or feeding. Breathing or feeding difficulties may occur in babies born with a gap within the roof of the mouth (cleft palate), a little mandible and a bent for the tongue to move toward the throat.
- Blindness. Blindness can occur if retinal detachments aren’t repaired promptly.
- Ear infections. Children with facial structure abnormalities related to Stickler syndrome are more likely to develop ear infections than are children with normal facial structure.
- Deafness. Deafness related to Sticker syndrome may worsen with time.
- Heart problems. Some people with Stickler syndrome could also be at higher risk of heart valve problems.
- Dental problems. Most youngsters who have Stickler syndrome have abnormally small jaws, so there often isn’t enough room for the complete complement of adult teeth. Braces or, in some cases, dental surgeries could also be necessary.
No treatment exists at the moment, and a permanent check by a specialist of the ears, nose and throat as well as of the heart is essential in order to be able to treat the symptoms, in particular with hearing aids if it is necessary.