Treatment Options For Fraser Syndrome
Fraser syndrome is a medical condition caused by a rare genetic disorder. The signs are the webbing of the fingers and toes, kidney abnormalities, and fusion of the eyelids. Those affected can also have kidney dysfunctions, including underdeveloped or missing kidneys. Infants are born with this condition, and it is diagnosed at birth. The main indicators are the physical malformations on the body. This condition occurs when there is a mutant gene present during the time of conception. Get to know how Fraser syndrome is treated now.
Corrective Surgery
Fraser syndrome causes many malformations in the body that affects the nose, fingers, toes, and reproductive organs. Each defect has an impact on the infant's health and wellbeing and needs to be addressed, so the child can have a better quality of life. Since the eyelids become totally fused and deformed, the infant's eyes are closed shut. The skin can pass from the forehead and onto the cheek with a malformed eye underneath. This condition is called cryptophthalmos and leads to blindness because the cornea cannot develop properly, and the eyes are covered by skin.
The children with this congenital anomaly typically need to undergo corrective surgery to enhance their eyesight. There are surgeries performed to correct the closed eyelids that improve vision in children. During this surgery, the cornea is protected, and the upper and lower eyelids are separated and reconstructed. Skilled oculoplastic surgeons do this procedure to provide children with a better appearance and help them see.
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Genetic Counseling
Since an autosomal recessive genetic disorder is the reason for Fraser syndrome, parents are recommended to seek genetic counseling. This type of counseling provides advice to prospective parents concerned about their children being born with Fraser syndrome or other genetic conditions. The gene is passed onto to the child by a combination of chromosomes from both the mother and father. This may cause concern for expecting parents who carry this genetic disorder. Chromosomes are present in the cells of human beings and contain the genetic information for everyone. The cells in the human body have forty-six chromosomes that contain the genetics passed down to children from their parents.
Fraser syndrome is carried in the chromosomes with abnormal genes. When parents participate in genetic counseling, a counselor will aid them in understanding how genetics may affect their unborn child. They can also explain how the family can cope with life if they have a child with this disorder. A genetic counselor evaluates the family's medical history and provides information about the baby’s risk of developing a medical disorder. The counselor will also arrange genetic tests for and assist with making healthcare plans.
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Specialist Treatment
When an infant is born with Fraser syndrome, they have many physical abnormalities, such as webbed toes and fingers. The development of their urinary and respiratory tracts are also affected. The defect can include the larynx and trachea, and they may have malformed noses, lips, and ears. The internal organs and tissues do not develop properly, and infants suffer from skeletal problems. These issues can include the separation of pubic bones, the absence of ribs, and scoliosis. Because this genetic disorder causes so many malformations, parents may choose to employ specialist treatment to help them manage the condition.
A specialist has expertise in this disease and provides the latest technology. They can advise parents on the specific treatments their child needs. Since infants have many medical problems that require care, a specialist in Fraser syndrome is recommended. More than one specialist may be required because the disorder affects various parts of the body. For instance, if one of the symptoms is cryptophthalmos, an oculoplastic surgeon is mandatory.
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Symptom Management
The prognosis for living with Fraser syndrome varies depending on the symptoms. Even though the disease can be fatal, individuals are living with this condition. Many individuals get assistance with the symptoms of this disorder, so they can have a longer lifespan. If you do employ healthcare professionals to assist your child with symptoms, it can help tremendously. It will improve the quality of your child’s life and help deal with surgeries and pain. Symptom management will also assist with handling the psychological, physical, and social issues contributed to the disease.
The practitioners involved with handling this disorder know how to effectively monitor the overall effects related to this disorder. Since each child has different physical abnormalities, everyone needs individualized attention. Many individuals become blind and have cryptophthalmos, lacrimal duct aplasia, and malformed lacrimal ducts. These are disorders of the eye and requires the aid of a professional experienced with symptom management.
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Clinical Trials
Even though there is no cure for Fraser syndrome, researchers continue to search for ways to improve symptoms. Another way to get help with this disorder is by becoming involved in clinical trials, which are experiments or observations done in a clinical setting with medical professionals. They provide patients with new treatments to aid them in managing diseases. Once health authorities and ethics committees receive approval, they can conduct the trial on human beings.
There are already studies being done on individuals living with Fraser syndrome. During these trials, researchers administer their intended treatment to patients, along with a placebo for the control group.