Stickler Syndrome Type 2
Stickler Syndrome Type 2 Causes
The syndrome is thought to result from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominant trait which means a person with the syndrome has a 50% chance of passing it on to each child.
Stickler Syndrome Type 2 Definition
Stickler syndrome (also known as David-Stickler syndrome or Stickler-Wagner syndrome) is a group of genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is marked by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. ----------------------------------------------------------------------------------------------------------------
Stickler Syndrome Type 2 Symptoms and Signs
A characteristic trait of Stickler syndrome is a somewhat flattened facial appearance. This is the result of underdeveloped bones in the middle of the face, including cheekbones and the bridge of the nose. Children with a cleft palate are also prone to frequent ear infections and difficulties with swallowing. ----------------------------------------------------------------------------------------------------------------
Stickler Syndrome Type 2 Treatment
Many professionals that are most likely to be involved in the treatment of those with Stickler's Syndrome, include craniofacial surgeons, ear/nose/and throat specialists, ophthalmologists, audiologists and rheumatologists.