Opitz-Kaveggia syndrome, also known as FG syndrome, is a rare genetic disorder linked to the X chromosome that causes developmental delays, physical abnormalities, and health problems. It can result in mental disabilities, hyperactivity, bowel abnormalities, facial deformities, and loss of the corpus callosum. Children with FG syndrome have unique physical, mental, and behavioral needs that require individualized assessment and treatment.
Opitz-Kaveggia syndrome is a genetic syndrome linked to the X chromosome. Also known as FG syndrome, or FGS, this rare disorder causes developmental delays and physical abnormalities. Features of FG syndrome include mental disabilities, hyperactivity, bowel abnormalities, facial deformities, and loss of the corpus callosum. Many children die in infancy from malfunctioning intestines or brains; 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, thin upper lip, low-set ears, and a large head in proportion to the body. Limb problems typical of this genetic disorder include large thumbs, big toes, and flat feet. Each child has a unique blend of physical and mental characteristics that combine to form their particular variety of FG syndrome.
Health problems are common with children with FGS. Ear infections and upper respiratory illnesses are ongoing events that need close attention. Bowel abnormalities include constipation, bowel deformities, and eating difficulties. Stomach and intestinal problems can become so severe that they require a feeding tube.
Facial deformities can include a key or partial cleft palate that requires surgery to correct. Abnormal tooth growth and swallowing difficulties are another symptom of FG syndrome. Low-set, slanted eyes set wide apart are also characteristic of children with this X-linked recessive disorder.
Neurological abnormalities are the most serious features 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 with this genetic disorder. In its most extreme form, children with FG syndrome may lack the 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, desire to please, anxiety, and attention-seeking. Outgoing and witty personalities can often be seen in this syndrome. These moods can also quickly change to anxiety and tantrums.
There are myriad combinations of the various features that make up Opitz-Kaveggia syndrome. No child has exactly the same physical, mental or behavioral needs when diagnosed with this disorder. Each child needs an individualized assessment and treatment plan based on their specific characteristics of FG syndrome.
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