Stickler syndrome is one of the most prominent disorders that are seen. This is classified as one of the severe genetical disorders. The problems with Stickler syndrome are majorly physical. The syndrome is diagnosed in childhood, and many specific and abnormal features can be observed for the sufferer. The children are born with the disease generally have prominent eyes and small nose. Receding Chin and Cleft Palate can also be observed for the patient. Stickler syndrome is considered as one of the diseases where the problems are considered as not curable. The physical distortion might create some complications but generally, the disease is a risk free. However, the syndrome hugely impacts vision, hearing and joint problems with the growing age. Surgery might be carried in order to cure the scooped facial features. But the case can become seriously complicated and can be dreadful as well if it reaches the alarming level.
Symptoms of Stickler Syndrome
It is important to understand the symptoms of the Stickler syndrome. The most prominent reason for observing the symptoms are lack of treatment for it. As there is not much of medical assistance available for Stickler syndrome, the patient might suffer in extreme condition. The symptoms of the syndrome can be observed right from the childhood. It is a genetical disorder, so it might be inherited from the parents. So, if the parents have the syndrome, then there is huge possibility that the children might have the same. However, it depends on the individual.
Vision becomes a problem with people suffering from Stickler syndrome. The nearsightedness problem is very common in Stickler syndrome. The symptom can be observed during the childhood, and one can notice the issues. However, along with that children might face more serious complications like cataracts, glaucoma and retinal detachments. The vision problem increases with the growing age.
Hearing becomes a huge problem for the people suffering from Stickler Syndrome. It has been observed that the children face the problem with high frequencies. But it completely depends on the individual. The problem might be varying in accordance with the patient. The hearing in capability increases with the growing age as well.
Bone and joints problem are also very common in Stickler syndrome. Children often have loose joints and over flexibility. They are also susceptible to disease like Scoliosis or bend the spine. Osteoarthritis can become a problem with the growing age for Stickler syndrome.
Children might experience problem in breathing and feeding. It has been noticed; that children born with Stickler syndrome face problems with respiration and cardiac activities.
Treatments of Stickler Syndrome
There is no doubt that there is no direct treatment available for Stickler syndrome. However, with the advancement of medical science, treatment of Stickler syndrome has become easier. It is said that the disease caused by the mutation of genes may be inherited or random. But people have a huge risk factor of breathing, feeding and also heart problems. The problems are more prominent in children.
As far as treatment is concerned, children having problem with joint pains and Glaucoma may put into the pain relieving and glaucoma drugs. However, that might not very helpful in case long term treatment. However, modern technologies like Speech Therapy, Physical Therapy, Hearing aids may reduce the problems and complications up to some extent.
In the case of serious physical complications, surgery might be carried out. The most common surgeries are Tracheotomy, Cleft palate repair, Ear tubes, Eye surgeries and Joint Replacement.
Life Expectancy of Stickler Syndrome
Life expectancy is not much affected by the disease, the people suffering from Stickler Syndrome live normal life. The average life of a patient suffering from the disease is almost 60 years. The life expectancy however largely depends upon the treatment available and the complications of the problems. The death may not be a direct consequence of the syndrome, but cases have been observed when Stickler Syndrome indirectly kills a person at an early age.
Images of Stickler Syndrome
Image 1 – Prominent eyes
Image 2 – Cleft Lip in stickler syndrome