What is Stickler Syndrome
Stickler syndrome is a genetic condition that is characterized by serious problems in vision, hearing, problems of the joints and prominent facial features.
Stickler Syndrome Symptoms
The symptoms of stickler syndrome may vary in severity among different individuals. Some of the symptoms of stickler syndrome are mentioned below:
Pierre Robin sequence
Individuals born with stickler syndrome may have a number of birth defects like a cleft palate, a tongue that falls back, a small jaw, etc. These defects may result in feeding and breathing problems.
The severity of hearing difficulties varies within individuals with stickler syndrome. Usually the capability of the ears to hear high frequency sounds is affected and may worsen with time.
The face has a slightly flattened appearance that comprises of a small nose with a recessed bridge and a receding chin. With a progress in age, these facial abnormalities may not be as evident.
Abnormalities of the bones and joints
- Children may have excessive flexibility of the joints that lessens with time
- Premature arthritis is common in individuals with stickler syndrome
- Long fingers with protruding knuckles.
- Scoliosis or other disorders that relate to abnormalities of the spine may be present in individuals with stickler syndrome.
- The children may have extreme nearsightedness or myopia, wherein the objects farther away are not visible. The objects that are near are clearly visible.
- Cataracts or clouding of the eye-lens may be present from birth or develop later in individuals with stickler syndrome.
- Glaucoma which increases the pressure within the eyes may be present. Glaucoma may sometimes result in optic nerve damage.
- The retina is an essential component of vision. Stickler syndrome may cause the retina to detach or tear away, which may result in blindness.
Stickler Syndrome Causes
Stickler syndrome is caused due to the mutation of a certain class of genes that are involved in the production of proteins called collagen. Collagen is responsible for development of the connective tissues. The connective tissues that are most affected by the mutations are the cartilages and the eye fluids.
It has a genetic basis and may pass on from parents to children
Stickler Syndrome Treatment
Treatment of stickler syndrome involves:
- Medications like nonsteroidal anti-inflammatory drugs to relieve joint abnormalities and glaucoma drugs for eye problems.
- Lenses and hearing aids to treat eye and ear problems
- Speech and physical therapy for language and motor deficiencies.
- Surgical intervention to correct the physical deformities of the face like cleft palate, etc. and other parts of the body like hip replacement, etc.
Stickler Syndrome Pictures
Picture 1 : Stickler Syndrome Photo
Image source : wikimedia.org
Picture 2 : Stickler Syndrome Image of a boy
Image source : nature.com
Picture 3 : Joint hyperextensibility (hypermobility) Image
Image source :revophth.com
Picture 4 : Stickler Syndrome photo showing a flat maxilla
Image source : revophth.com
Picture 5 : A high arched palate in Stickler Syndrome
Image source : revophth.com