Stickler's Syndrome Research Paper

Stickler's Syndrome

Stickler's Syndrome is a connective tissue disorder that causes problems with vision, hearing, bones, and joints.

Stickler's Syndrome was named after Dr. Gunnar B. Stickler. In 1960, a 12 year old boy was analyzed at Mayo Foundation in Minnesota. The boy had expansions of quite a few of the joints, he was also very short sighted. His mother also had a problem, she was blind. Dr. Stickler founded that other members of this family had similar symptoms. This made Stickler very determined, so he did a five year study on this family, to figure out this condition. The conclusions were published in June of 1965. Gunnar named this condition Hereditary Progressive Artho-Ophthalmology, now known as Stickler's Syndrome(“Stickler's
Syndrome”).Stickler's Syndrome was said to be the most prevalent syndrome in the United States and in Europe(“About Stickler's Syndrome”). 1 in 10,000 people/ newborns could be affected with Stickler's Syndrome. Most medical experts think as many as 3 in 10,000 are affected, but a bountiful of studies need to be identified to prove this.

The variable, phenotypic, is the expression of Stickler's Syndrome(Verma).
All of the variables of phenotypic of Stickler's Syndrome are: inter familial variability, and families. Inter familial variability is explained by locus and allelic heterogeneity(Verma). This syndrome can reform itself differently within families(Wilson).In cases, if one may have Stickler's Syndrome, and your spouse or partner may not, your child will have a 50% probability of getting this condition. Almost never, people that have Stickler's Syndrome may not even inherit a mutant gene. If that happens, Stickler's Syndrome results from an accidental mutation in a few genes. Researchers have found four different types of mutations: COL2A1, COL9A1, COL11A1, and COL11A2 genes that cause Stickler. Genes are portions of DNA that are for all of the characteristics: eye color, and even propnsity to get high cholesterol. When the Syndrome is affected by the mutations in COL9A1 gene, it is aquired in an Autosomal Recessive pattern. When some gene pairs can be made up of a single dominant gene and one recessive gene. In this case, the outcome of a dominant gene is over the recessive gene. This is what an Autosomal dominant inheritance is. When the dominant gene is mutated in Stickler's Syndrome, a disease may occur. The parents of an individual that has an Autosomal Recessive trait, both carry a copy of the gene, however, it really does not show assurance and symptoms of this trait. All of these genes are
included in the following types of collagen: II, IX, and XI. These collagens are factors of cartilage, vitreous, and further more connective tissues. There are over 200 genetic disorders that include connective tissue. Collagens are compound molecules that add structure and strength to the connective tissues that are based on the body's joints and organs. Connective tissues are material that is in the internal part of your body that supports a lot of different parts. Not everyone that has Stickler's Syndrome have all of the four genes, Researchers admit that the mutations in other genes may actually cause this disease, although, those genes have not been recognized.

To really know what one has Stickler's Syndrome, one way is by symptoms on might have.
Some symptoms may append myopia, cataracts, and retinal detachment(Verma). People with Stickler's Syndrome, have uncompromising nearsightedness, which is very high myopia. In some of the types of Stickler's Syndrome, the transparent gel that fills the eye, has an aberrant appearnace, which anyone could see with the naked eye(“Stickler's Syndrome”). Other problems may include cloudynedd of the eye, which cataracts, and when the very thin layer of tissue toward the back of the eye retrains from its nourishing collection of blood vessels, which is retinal detachment(Verma).Another disorder of the eye is called Glaucoma. This is when there is pressure is enhanced within your eyeball. The more pressure it has, it will eventually pinch a nerve that transmits the signal of sight from the retina to the brain, which could eventually turn into blindness. An Additional feature of Stickler's Syndrome is hearing loss, which s both conductive and sensorineural(Wilson). This could actually cause deafness. When doctors want to determine if their patient has hearing loss, they do a test called an audiogram. This measures the ability to discover a multiple of pitches of volumes and sounds. Another one is skeletal abnormalities, in other words, excessive joint flexibilility. Joint flexibility is when one is able to extend their arms and legs to a point where it is out of the range of motion that is
suitable for most people. With this, Arthritis is known at a very young age. It causes pain or stiffness in the joints. Bones of the spine could have abnormal curves, which is Scoliosis. It can also flatten out the vertebrae, which could cause severe back pain. With all the pain, one could use Anti-inflammatory medications, such as: ibuprofen, Advil, Motrin, Naprosyn, ext. However, if one uses Asprin, younger that 14, it could cause another syndrome, called Reye's Syndrome, which infects the liver, brain, and other internal organs in the body. Even problems with the heart could occur in Stickler's Syndrome. Doctors call it Mitral valve prolapse. This is a disorder when one of your heart valves does not close correctly. Another thing is chronic fatigue. Chronic fatigue is when one's muscles and joints are hurting, chronic severe, mental and physical exhaustion, muscle weakness, , digestive disturbances, depression, poor immune response, and cardiac and respiratory problems. With all of these symptoms, one will not be able to play any sports, because it could put more stress of getting retinal detachment. Physical appearnaces of Stickler's Syndrome, is also, the flatness of the face. This is caused by the impoverishesd bones, near the middle of the face: cheeckbones and the bridge of the nose. A group of physical features called the Robin sequence, which is also known in people that have Stickler's Syndrome. The features of the Robin sequence contains an opening of the roof of the mouth, an abundant tongue, and a diminutive lower jaw. Also, with the face abnormalities, ear infections could be in result of this. These features can cause eating problems, and breathing trouble. Sometimes people have nearly no signs or symptoms(“Stickler's Syndrome”).

If one would want to get rid of some of these difformities, they are actually thinking of a “cure”. Treatment is a good way to start off. If one would want treatment, it will include surgery of the joints or an adjustment of a cleft palate, or laser surgery for the detachea retina(Mangan). In result, patients may need hearing aids and canes. Someone had built a machine for trating an advanced- stage retinopathy of prematurity, for children's retina diseases, surgical failure of the retinal detachment, for Stickler's Syndrome(Mangan). Other than that, there is no cure for Stickler's Syndrome. No studies have been recorded to conclude Stickler's Syndrome prevalence.