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The mystery of Stickler disease: What are the unknown features of this rare genetic disease?
Stickler syndrome is a group of rare genetic disorders that primarily affect connective tissue, particularly collagen. A subtype of collagenopathy, the disease is characterized by significant facial deformities, eye problems, hearing loss, and joint and bone problems. The condition continues to attract medical attention since it was first studied and described by Gunnar B. Stickler in 1965.
Signs and symptoms
Signs and symptoms vary among people with Stickler disease. Some people may have no obvious signs, while others may display some or all of the following characteristics. One of the notable features is the flattening of facial features, which is caused by the underdevelopment of mid-face bones such as cheekbones and nasal bridge.
In children in particular, the "Pierre Robin sequence" is a common feature, which involves a U- or V-shaped cleft palate and a relatively small lower jaw, resulting in an overly large tongue.
Additionally, many people with Stickler disease have severe myopia. The shape of the eye makes these patients susceptible to increased intraocular pressure (high blood pressure inside the eye), which can lead to glaucoma and retinal detachment. At the same time, the syndrome may also be accompanied by eye complications such as cataracts.
Causes
The cause of Stickler disease is thought to be related to mutations in several collagen genes during fetal development. It is a sex-neutral, autosomal dominant trait, meaning that in each pregnancy, an affected individual has a 50% chance of passing it on to their offspring.
Genetics
The mutations responsible for Stickler disease typically occur in the COL11A1, COL11A2, and COL2A1 genes, which are involved in the synthesis of type II and type XI collagens. Therefore, mutations in any of these genes can disrupt the production and assembly of collagen, which in turn affects the development of bone and other connective tissues.
Although three genes have been identified as causing Stickler disease, not all affected individuals have mutations in all three genes, so there may be other unknown genes.
Diagnosis
The various types of Stickler disease are diagnosed primarily through genetic testing. Depending on which collagen genes are involved, Stickler disease is classified into the following types:
- Stickler disease, COL2A1 (75% of cases)
- Stickler disease, COL11A1
- Stickler disease, COL11A2 (non-ocular)
- Stickler disease, COL9A1 (recessive variant)
- Stickler disease, COL9A2 (recessive variant)
- Stickler disease, COL9A3 (recessive variant)
- Stickler disease, LOX3 (recessive, only 7 cases reported)
Treatment of Stickler disease usually requires a multidisciplinary team, involving anesthesiologists, oral and facial surgeons, otolaryngologists, ophthalmologists, optometrists, audiologists, speech therapists, occupational therapists, physiotherapists, and Therapists and rheumatologists, etc.
History
Scientists associated with the discovery of the syndrome include: B. David (Medicine), Gunnar B. Stickler, G. Weissenbacher and Ernst Zweymüller.
Regarding the research progress and future treatment options for Stickler disease, as science develops, perhaps new explanations will emerge, allowing people to think about what role such diseases play in our lives?
