Stickler's syndrome (progressive hereditary arthro-ophthalmopathy) is a group of genetic disorders that affect connective tissue, especially collagen. Stickler's syndrome is a subtype of collagenopathy, type II and XI. Stickler's syndrome is characterized by distinctive facial abnormalities, eye problems, hearing loss, and joint problems. It was first studied and marked by Gunnar B. Stickler in 1965.
Video Stickler syndrome
Signs and symptoms
Individuals with Stickler's syndrome experience various signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. In addition, each feature of this syndrome can vary from subtle to severe.
Characteristics of Stickler's syndrome is a slightly flat face appearance. This is caused by undeveloped bone in the center of the face, including cheekbones and bridge of the nose. A group of certain physical features, called the Pierre Robin sequence, are common in children with Stickler's syndrome. The Robin sequence includes a U-shaped gap or sometimes V-shaped (a hole in the roof of the mouth) with a tongue that is too large for space formed by smaller lower jaws. Children with a cleft palate are also susceptible to ear infections and sometimes swallow trouble.
Many people with Stickler's syndrome are very nearsighted (depicted as having high myopia) due to eye shape. People with eye involvement tend to increase the pressure inside the eyes (ocular hypertension) that can cause glaucoma and tear or release a light-sensitive retina in the eye (retinal release). Cataracts can also appear as an ocular complication associated with Stickler Syndrome. Substances such as the eye jelly (vitreous humor) have a distinctive appearance in the Stickler syndrome type associated with the COL2A1 and COL11A1 genes. As a result, a regular appointment to a specialist eye doctor is recommended. The type of Stickler syndrome associated with the COL11A2 gene does not affect the eyes.
People with this syndrome have problems that affect things other than the eyes and ears. Arthritis, abnormalities in the ends of long bones, spinal abnormalities, spinal curvature, scoliosis, joint pain, and multiple flexibility are all problems that can occur in bones and joints. Physical characteristics of people with Stickler may include flat cheeks, flat nasal bridges, small maxillary jaws, pronounced upper lip grooves, small mandible, and palate abnormalities, these tend to diminish with age and normal growth and treatable ceiling abnormalities with routine operations.
Another sign of Stickler's syndrome is mild to severe hearing loss which, for some, can be progressive (see hearing loss with craniofacial syndrome). Affected children's joints and young adults may be very flexible (hypermobile). Arthritis often appears at an early age and worsens as a person grows older. Learning difficulties, not intelligence, can also occur due to hearing and vision loss if the school is not informed and students are not assisted in the learning environment.
Stickler's syndrome is thought to be associated with an increased incidence of prolapse of the mitral valve of the heart, although no definitive study supports this.
Maps Stickler syndrome
Cause
This syndrome is thought to originate from mutations of several collagen genes during fetal development. It is an independent autosomal dominant sex trait which means a person with a syndrome has a 50% chance of giving it to each child. There are three variants of the identified Stickler syndrome, each linked to the collagen biosynthesis gene. Metabolic defects of hyaluronic acid and collagen type 2-d are assumed to be the cause of this syndrome.
Genetics
Mutations in the COL11A1, COL11A2 and COL2A1 genes cause Stickler syndrome. These genes are involved in the production of collagen type II and type XI. Collagen is a complex molecule that provides the structure and strength for connective tissue (a tissue that supports the joints and organs of the body). Mutations in these genes interfere with the production, processing, or assembly of collagen type II or type XI. Damaged collagen molecules or reduced amounts of collagen affect the development of bone and other connective tissue, leading to features characteristic of Stickler syndrome.
Others, as yet unknown, genes can also cause Stickler's syndrome because not all individuals with the condition have mutations in any of the three identified genes.
Diagnosis
Type
Genetic changes associated with the following Stickler syndrome types:
- Stickler's Syndrome, COL2A1 (75% Stickler case)
- Stickler's Syndrome, COL11A1
- Stickler's Syndrome, COL11A2 (non-ocular)
- Stickler's Syndrome, COL9A1 (recessive variant)
Whether there are two or three types of Stickler's syndrome are controversial. Each type is presented here according to the genes involved. The classification of this condition changes when researchers learn more about genetic causes.
Treatment
Many professionals may be involved in their care with Stickler's syndrome, including anesthesiologists, oral and maxillofacial surgeons; craniofacial surgeon; ear, nose and throat specialist, ophthalmologist, optometrist, audiologist, speech pathologist, physical therapist, and rheumatologist.
Epidemiology
Overall, the estimated prevalence of Stickler's syndrome is about 1 in 10,000 people. Stickler's syndrome affects 1 in 7,500 to 9,000 newborns.
History
Scientists associated with the discovery of this syndrome include:
- B. David (medicine)
- Gunnar B. Stickler
- G. Weissenbacher
- Ernst ZweymÃÆ'¼ller
See also
- Mandy Haberman, discovered Haberman Feeder when his daughter, who was born with Stickler's syndrome, needed a special meal because of the crevice ceiling.
- Marshall's Syndrome
- Pierre Robin syndrome
References
External links
directory
- GeneReviews/NCBI/NIH/UW enters Stickler Syndrome
Source of the article : Wikipedia
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