Stickler Syndrome
Stickler syndrome is a disorder inherited by birth that can affect important sensation of the body. This disorder can also affect serious joint problems and often the symptoms are diagnosed as early as infancy or childhood. The child born with Stickler syndrome would have marked facial features with prominent eyes, receding chin and a small nose. In many cases the child is born with cleft palate (a small opening in the roof of the mouth). This disorder cannot be treated or cured since it is a genetic problem but further complications in the body can be prevented with suitable treatment.
Signs and Symptoms :
Not all the children born with Stickler syndrome would develop the same symptoms and the intensity of symptoms varies from one child to another. The child with this disorder would have severe nearsightedness and may develop Glaucoma and cataracts during childhood. In some cases, retinal detachment may develop warranting surgery. Many children may develop hearing problem with reduced hearing. They may not be able to hear properly certain frequencies of sound.
The disorder would progress as the child grows causing more complications in vision and hearing. In addition Stickler syndrome can also cause severe joint abnormalities and bone problem. They have very flexible joints that can cause abnormal curvatures in the spine and may also lead to osteoarthritis due to weak bone density. Stiffness of joint and bone pain are common in these children.
Types :
There are several types of Stickler syndrome categorized according to the part of the body it affects. The intensity of loss of vision and hearing varies according to the type.
Causes :
Defective gene mutations are the major cause for developing Stickler syndrome. The genes that are responsible for collagen formation undergo repeated mutations causing various complications in the bones and joints and vision. Genes involved in Stickler syndrome are COL2A1, COL11A2 and COL11A1. These are genes that makes up collagen particle required for strengthening of bones and joints. Defective collagen can seriously affect the normal development of connective tissues. These defective genes are inherited through autosomal dominant pattern.
People who are born to parents (both father and mother) are at highest risk of inheriting this disorder. If one of the parents has Stickler the child has 50% chance for developing this disorder. In rare cases some children acquire this disorder even if his parents are not affected. It may develop due to random mutated genes. It is reported that one out of every 9,000 births can have Stickler syndrome.
Complications :
Some children born with Stickler syndrome can develop breathing problems and feeding difficulties. Because of cleft palate the infant may not be able to suck the milk from his mother resulting in Weight Loss. The child may develop total blindness if problems like glaucoma or cataracts are not corrected in early stages. Similarly ear infections are quite common in these children due to impaired facial features. They are at high risk of having heart problems.
Diagnosis :
Often, children born with Stickler syndrome can be detected by close observation by the doctor. Additional tests like eye exams and hearing tests will be done for detecting the intensity of the problem. Regular check up of eye and hearing is necessary for such children.
Treatment :
Stickler syndrome cannot be cured since the defect is inherited by birth. However medications and treatments can be given to reduce the intensity of symptoms. To reduce joint pain and swelling, Ibuprofen, Advil or Aleve can be taken. Pressure of the eyes can be controlled by using glaucoma drugs daily as instructed by the ophthalmologist.
Due to consistent loss of hearing, quality of speech of the child can get affected. In such case, the child should be given speech therapy regularly to improve his speech. Physiotherapy is effective in reducing swelling of joints and medical devices like braces or canes can be used. Children with hearing problems can make use of suitable hearing AIDS right from early ages.
Infants with small jaws and displaced tongues may need surgical intervention of tracheostomy to create artificial hole in the throat for breathing easily. As the child develops and gains normal growth reversive surgery is to be done to close the hole. Appropriate jaw surgery is done for children who need correction of lower jaw.
Ear surgery can be done for placing of plastic tubing in the eardrum to repair hearing loss and to reduce ear infections in future. Cataract surgery and retinal surgery is to be done for correcting vision problems in children with Stickler syndrome. In some children joint replacement surgery is done to prevent the severity of early arthritis.
Stickler syndrome is a disorder inherited by birth that can affect important sensation of the body. This disorder can also affect serious joint problems and often the symptoms are diagnosed as early as infancy or childhood. The child born with Stickler syndrome would have marked facial features with prominent eyes, receding chin and a small nose. In many cases the child is born with cleft palate (a small opening in the roof of the mouth). This disorder cannot be treated or cured since it is a genetic problem but further complications in the body can be prevented with suitable treatment.
Signs and Symptoms :
Not all the children born with Stickler syndrome would develop the same symptoms and the intensity of symptoms varies from one child to another. The child with this disorder would have severe nearsightedness and may develop Glaucoma and cataracts during childhood. In some cases, retinal detachment may develop warranting surgery. Many children may develop hearing problem with reduced hearing. They may not be able to hear properly certain frequencies of sound.
The disorder would progress as the child grows causing more complications in vision and hearing. In addition Stickler syndrome can also cause severe joint abnormalities and bone problem. They have very flexible joints that can cause abnormal curvatures in the spine and may also lead to osteoarthritis due to weak bone density. Stiffness of joint and bone pain are common in these children.
Types :
There are several types of Stickler syndrome categorized according to the part of the body it affects. The intensity of loss of vision and hearing varies according to the type.
- Type I children are at high risk of developing retinal detachment and loss of hearing.
- Type II people would have severe hearing loss and eye abnormalities.
- Type III children may not develop vision problems very seriously when compared with Type I and II. For this reason it is called non-ocular syndrome that does not affect the vision. But they may have loss of hearing in early stages of life.
- Only few cases of Type IV and V have been reported with marked facial features.
Causes :
Defective gene mutations are the major cause for developing Stickler syndrome. The genes that are responsible for collagen formation undergo repeated mutations causing various complications in the bones and joints and vision. Genes involved in Stickler syndrome are COL2A1, COL11A2 and COL11A1. These are genes that makes up collagen particle required for strengthening of bones and joints. Defective collagen can seriously affect the normal development of connective tissues. These defective genes are inherited through autosomal dominant pattern.
People who are born to parents (both father and mother) are at highest risk of inheriting this disorder. If one of the parents has Stickler the child has 50% chance for developing this disorder. In rare cases some children acquire this disorder even if his parents are not affected. It may develop due to random mutated genes. It is reported that one out of every 9,000 births can have Stickler syndrome.
Complications :
Some children born with Stickler syndrome can develop breathing problems and feeding difficulties. Because of cleft palate the infant may not be able to suck the milk from his mother resulting in Weight Loss. The child may develop total blindness if problems like glaucoma or cataracts are not corrected in early stages. Similarly ear infections are quite common in these children due to impaired facial features. They are at high risk of having heart problems.
Diagnosis :
Often, children born with Stickler syndrome can be detected by close observation by the doctor. Additional tests like eye exams and hearing tests will be done for detecting the intensity of the problem. Regular check up of eye and hearing is necessary for such children.
Treatment :
Stickler syndrome cannot be cured since the defect is inherited by birth. However medications and treatments can be given to reduce the intensity of symptoms. To reduce joint pain and swelling, Ibuprofen, Advil or Aleve can be taken. Pressure of the eyes can be controlled by using glaucoma drugs daily as instructed by the ophthalmologist.
Due to consistent loss of hearing, quality of speech of the child can get affected. In such case, the child should be given speech therapy regularly to improve his speech. Physiotherapy is effective in reducing swelling of joints and medical devices like braces or canes can be used. Children with hearing problems can make use of suitable hearing AIDS right from early ages.
- Surgery :
Infants with small jaws and displaced tongues may need surgical intervention of tracheostomy to create artificial hole in the throat for breathing easily. As the child develops and gains normal growth reversive surgery is to be done to close the hole. Appropriate jaw surgery is done for children who need correction of lower jaw.
Ear surgery can be done for placing of plastic tubing in the eardrum to repair hearing loss and to reduce ear infections in future. Cataract surgery and retinal surgery is to be done for correcting vision problems in children with Stickler syndrome. In some children joint replacement surgery is done to prevent the severity of early arthritis.
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