Causes and risk factors
Stickler syndrome is a genetically inherited disorder. It is caused due to inheritance of abnormal genes which are responsible for formation of collagen. Collagen forms a binding protein of connective tissues. The genes which control and direct collagen synthesis are COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3. These genes undergo genetic mutation. They are inherited in autosomal dominant pattern.
Clinical presentation
Characteristic feature of stickler syndrome is flattened facial appearance. It is accompanied by cleft palate, a tongue that is placed back than normal, smaller lower jaw. They cause difficulty in breathing and feeding. Eye abnormalities like near sightedness, abnormal appearance of the gel that fills the eye [vitreous body] is seen. Other eye problems such as cataract, glaucoma, retinal detachment are also present causing impaired vision or even blindness. Hearing loss is another symptom of stickler syndrome. Skeletal problems such as hyper flexibilities of joints, problems in curvature of spine [scoliosis, kyphosis], arthritis, and flattened vertebrae is observed. It is associated with back pain.
Investigation
Medical history by the patient’s parents and Clinical examination by the doctor helps in diagnosis. Presence of 5 or more than 5 of the above mentioned features [orofacial, auditory, ocular, skeletal and family history of the disease.] is suggestive of stickler syndrome. Genetic testing is recommended. Imaging studies such as X ray, CT scan, and MRI may be useful for the evaluation of associated abnormalities. Eye examination, Audiometry is advised.
Treatment
No treatment is available for the stickler syndrome .Only supportive care with symptomatic treatment is given. Treatment depends upon the underlying symptoms. Medicines such as analgesics for skeletal problems, drugs for glaucoma are prescribed. Adaptive devices are advised to cope up with the disease. Adaptive devices such as hearing aid, spectacles, communication aids for speaking are useful. Special education is required for slow learner children, and those who are visually and hearing impaired. Physiotherapy, speech therapy will also help in managing the disease. Surgery is needed such as eye surgery for repairing cataract, ear surgery, cleft palate repair, and joint replacement surgery.
Other Modes of treatment
The other modes of treatment can also be effective in treating stickler syndrome. Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating stickler syndrome.
Facts and figures
Stickler syndrome affects 1in 7500 to 9000 babies.
