Stickler syndrome is a genetic progressive condition, passed from parent to child. This is usually diagnosed during infancy/childhood. Stickler syndrome is characterized by eye abnormalities, facial appearance (underdeveloped mid-facial bones), cleft palate, small lower jaw, and joint problem.
This condition affects the body’s connective tissue (collagen). The genes that control the collagen synthesis and that may cause this syndrome are:
- COL2A1 – in 75% of the cases and therefore is classified as type 1 Stickler syndrome
- COL11A1 – may affect the joints, hearing, vision; known as type 2 Stickler syndrome
- COL11A2 – affects only the joints and hearing; known as Oto-spondylo-megaepiphyseal dysplasia
There are two more genes COL9A1 and COL9A2 referring to type 4 and 5 Stickler syndrome, respectively.
This syndrome can affect both sexes.
The symptoms of Stickler syndrome are:
- eye problems, such as nearsightedness, glaucoma, cataracts, retinal detachment
- hearing problems – mostly affecting hearing high frequency
- abnormalities of the bones and joints – these patients have flexible joints, can develop scoliosis
- Stiff joints
- Early joint disease leading to osteoarthritis in later life
- Cleft palate, submucous or high arched palate
- Smaller lower jaw
- Flat face, small nose, little or no nasal bridge
- mitral valve prolapse
The cause of Stickler syndrome is mutation of some of the collagen genes, inherited by the affected parent, most often the collagen genes that produce joint cartilage and vitreous jelly in the eyes.
Very rare are cases when this syndrome develops without a parent being affected. In this case, it is due to a random mutation of the genes.
The risk of developing Stickler syndrome is if one of the parents is affected.
The complications of Stickler syndrome are:
- possible difficult feeding if the child is born with cleft palate
- dental problems if there is a smaller jaw
- ear infections
- blindness, in case of glaucoma or cataracts
- heart problems