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Opitz-Kaveggia syndrome is a genetic syndrome with a link to the X chromosome. Also known as FG syndrome, or FGS, this rare disease causes developmental delays and physical anomalies. Characteristics of FG syndrome include mental disabilities, hyperactivity, bowel abnormalities, facial deformities and loss of the corpus callosum. Many children die in infancy because of non-functioning bowels or brain; if they live, there are long-term, life-altering characteristics to deal with.
Several physical characteristics are typical of a person with FG syndrome. Facial deformities include a high forehead, a thin upper lip, low-set ears, and a large head in proportion to the body. Limb issues typical of this genetic disorder include large thumbs, big toes and flat feet. Every child has a unique mixture of physical and mental characteristics that combine to form their particular variety of FG syndrome.
Health issues are common with children suffering from FGS. Ear infections and upper respiratory illnesses are ongoing occurrences that require close attention. Bowel abnormalities include constipation, bowel deformities and eating difficulties. Stomach and intestinal issues can become so bad that a feeding tube is needed.
Deformities of the face can include a clef or partial cleft palate that requires surgery to correct. Abnormal teeth growth and swallowing difficulties are another symptom of FG syndrome. Low, slanted eyes that are spaced far apart are also characteristic of children with this X-linked recessive disorder.
Neurological abnormalities are the most severe characteristics of FG syndrome. Children can have developmental delays and learning disabilities, but they can also have more extreme mental retardation. Seizures can occur mildly or more severely with children suffering from this genetic disorder. At its most extreme, children with FG syndrome may be missing their corpus callosum, a part of the brain that connects the hemispheres of the brain. Without it, communication can be extremely difficult.
Behavioral difficulties are another aspect of this syndrome and can include attention deficit disorder, obsessive compulsive behavior, being eager to please, having anxiety and being demanding of attention. Outgoing and witty personalities can often be seen in this syndrome. Those moods can also quickly change to anxiety and tantrums.
There are myriad combinations of the various characteristics that form Opitz-Kaveggia syndrome. No child has the exact same physical, mental or behavioral needs when he or she is diagnosed with this disorder. Every child needs an individualized treatment evaluation and plan based on his or her specific FG syndrome characteristics.
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