Stickler syndrome is a rare genetic disorder that affects the connective tissue, especially collagen, which is the main component of cartilage, bones, tendons, and skin. People with Stickler syndrome have various symptoms that can affect their eyes, ears, face, joints, and skeleton. Some of the common symptoms include nearsightedness, cataracts, glaucoma, retinal detachment, hearing loss, cleft palate, flat face, small jaw, arthritis, scoliosis, and short stature.
Stickler syndrome is inherited in an autosomal dominant pattern, which means that one copy of the mutated gene is enough to cause the disorder. However, the severity and frequency of the symptoms vary from person to person, even within the same family. Some people may have mild or no symptoms at all, while others may experience serious complications that require medical attention. The disorder is caused by mutations in one of several genes that encode different types of collagen. The most common types of Stickler syndrome are type I (caused by mutations in COL2A1 gene), type II (caused by mutations in COL11A1 gene), and type III (caused by mutations in COL11A2 gene).
Because Stickler syndrome is so rare and diverse, it is often misdiagnosed or overlooked. However, some celebrities and public figures have been suspected or confirmed to have Stickler syndrome. Here are some examples:
- Esme O'Malley, a British actress and model who appeared in films such as The King's Speech and The Theory of Everything, has Stickler syndrome type I. She was born with a cleft palate and a small jaw, which required several surgeries to correct. She also has high myopia and has undergone laser eye surgery to prevent retinal detachment. She has been vocal about raising awareness and support for people with Stickler syndrome and other craniofacial conditions.
- Kim, a 23-year-old woman from Scotland who shared her story on Diseasemaps.org, has Stickler syndrome type II. She suffered her first retinal detachment in 2014 and has since had seven operations on her eyes. She also has hearing loss and wears hearing aids. She has joint pain and stiffness and has been diagnosed with arthritis. She has a flat face and a small jaw and has had braces to correct her teeth alignment.
- Anya, a mother of two children from the Netherlands who also shared her story on Diseasemaps.org, has a daughter who was born with Stickler syndrome type III. Her daughter had a small jaw and an open palate at birth, which required surgery to close. She also has hearing loss and wears hearing aids. She has joint hypermobility and suffers from frequent sprains and dislocations. She has a normal vision but needs regular eye check-ups.
- Cassondra, a 51-year-old woman from the United States who posted her story on Diseasemaps.org, has Stickler syndrome type I. She was born with neurosensory hearing loss in both ears and had speech therapy as a child. She had braces in high school to correct her overbite. She developed glaucoma in her twenties and had surgery to lower her eye pressure. She also had cataract surgery in both eyes. She suffers from chronic joint pain and stiffness and has been diagnosed with osteoarthritis.
- Brittany Howard, the lead singer and guitarist of the American rock band Alabama Shakes, has ocular albinism type I (OA1), a rare genetic disorder that affects the pigmentation of the eyes and causes vision problems such as nystagmus, strabismus, photophobia, and reduced visual acuity. She became blind in one eye due to having retinal detachment as a child. Although ocular albinism is not the same as Stickler syndrome, some researchers have suggested that there may be a link between them because both disorders involve defects in collagen genes.
These are just some examples of celebrities with Stickler syndrome or related conditions. They show that people with this disorder can overcome their challenges and achieve their goals in life. They also show that more awareness and research are needed to improve the diagnosis and treatment of this rare disorder.
by Diseasemaps