Disease Manifestations
Stickler syndrome is also known as Hereditary Progressive Arthro-ophthalmopathy
What is another name for Stickler syndrome?
An individual presents with eye problems, hearing issues, and bone or joint abnormalities
What are the most common symptoms?
There is a mutation in a gene that leads to the formation of collagen
What causes Stickler syndrome?
A clinical evaluation is completed considering patient and family history
How is Stickler Syndrome diagnosed?
Initial treatment includes the management of symptoms
What is most important for individuals with Stickler syndrome and their families to focus on?
Stickler syndrome affects about 1 in 7,500 to 9,000 newborns
How frequent is Stickler syndrome found?
They may experience difficulty hearing, especially at high frequencies
What types of ear problems are there?
Individual may get both copies of the abnormal gene from each parent (autosomal recessive) or one copy from one parent (autosomal dominant) to get the disease
How is Stickler syndrome inherited?
One can look for cleft palate, a tongue located further back, and a small jaw
How can Stickler syndrome be identified with regards to the mouth?
Corrective lenses, surgery to remove cataracts or reattach retina may be recommended
What can be used to help with eye problems?
The genders are equally affected from this genetic disease
Is Stickler syndrome found more commonly in men or women?
They may have incredibly flexible joints, early onset arthritis, or abnormal curvature of the spine
What joint abnormalities can be found?
Retinal detachment is most frequently indicated with this type
What is found with Type I individuals?
There would be a flattened facial appearance (bones in the middle of face not completely formed), fluid filled eyes, curvature of the spine
What would someone with Stickler syndrome look like?
Hearing aids or surgical replacement of a plastic tube in the eardrum may improve their hearing
What can help with ear abnormalities?
Those who are diagnosed with Marshall syndrome also have eye problems, hearing loss, early-onset arthritis, and a smaller stature
What is a similar condition?
They may have increased pressure within the eye (glaucoma), damage to the retina, clouding of the lens (cataracts), or blindness (complete or distance)
What types of eye problems could the affected individual have?
These genes are involved in the production of collagen (a main component of joints, the jelly-fluid in the eye, and bones)
What do the genes encode for?
There are six different types of Stickler syndrome (Type I is most common)
How many types are there?
Speech therapy, jaw surgery or orthodontics to widen the mouth, cleft palate repair, or surgery to place a hole in the throat to help with breathing (tracheostomy) may be useful
What should be used for oral issues?
Diagnosis is during infancy or childhood and may progress overtime if symptoms are not treated early on
What is the disease manifestation of Stickler Syndrome?
Most have abnormally small jaws which lack enough space for the breathing, swallowing, and development of teeth
What dental problems may they face?
This would include COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, and COL9A3
What specific genes are mutated?
X-rays or eye/hear examinations as well as genetic testing to look for mutations within the genes COL2A1, COL11A1 COL9A1, COL9A2, COL9A3, and COL11A2
What tests can be used to identify the presence or severity of Stickler Syndrome?
If Stickler syndrome is not diagnosed early, they can’t track its progress as clearly or catch retinal detachment before they lose sight
What puts the individual at risk the most?