Cat eye syndrome is a very rare genetic medical condition caused by the presence of an extra fragment on chromosome 22. Also referred to as Schmid-Fraccaro syndrome, this condition can cause problems with the heart, eyes, ears, and kidneys. One of the most common symptoms of cat eye syndrome is having a hole in the iris (the colored part of the eye), leading to what some individuals call a cat's eye. Patients with the syndrome also experience a cleft lip or cleft palate, crossed eyes, widely spaced or downward-slanting eyes, and small holes in the ears. Other symptoms include congenital heart defects, scoliosis, jaundice, liver issues, and urinary tract infections. Some patients may have developmental delays or mild learning difficulties. Cat eye syndrome can be diagnosed with blood and bone marrow testing, and doctors also do a clinical examination, which includes vision and hearing tests as well as cardiac screenings such as an electrocardiogram and an echocardiogram. Children may need additional testing with eye and ear specialists. Some of the symptoms of the condition may be visible on an ultrasound taken while the child is in the womb. While there is no cure for cat eye syndrome, patients can manage their condition with the methods described below.
Physical therapy involves the use of special stretches and exercises to strengthen muscles and joints and improve mobility. For patients with cat eye syndrome, physical therapy can be especially useful if they are displaying signs of scoliosis or having difficulty with walking and other motor skills. Typically, therapy for these patients needs to begin as early as possible. Physical therapists can help patients improve the gait and balance by learning how to use stairs safely. They can show patients and their family members exercises that will improve flexibility, and they will provide advice about how often these exercises should be completed. As the child grows, their therapy can be modified and adapted to changing needs. In addition to exercises, physical therapists can recommend orthotic devices that can make walking and other tasks easier for children. For example, shoe inserts can make it easier for children to balance in their shoes and can improve gait. It may be helpful for children to engage in active play or sports at home to reinforce the skills learned in physical therapy.
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