Cat Eye Syndrome, also known as Schmid-Fraccaro Syndrome, is a congenital condition that occurs in both males and females. Apparent at birth, this condition is diagnosed by its symptoms, including iris colobama. Only certain symptoms of Cat Eye Syndrome are treated, such as anal atresia, heart defects, and cleft palate. Other symptoms, such as short stature, urinary tract and kidney defects, and scoliosis, are also treated accordingly.
Anal atresia is one of the main symptoms of Cat Eye Syndrome, which results in either a lack of an anus or one that is otherwise obstructed. This subsequently creates an inability of the patient to effectively pass stool. Anal atresia is treated by surgery, either to reconstruct a functioning anus or to create a temporary colostomy. A colostomy, where waste is passed through the colon and out of a stoma, is often created when the patient has other physical defects that require more urgent attention.
Heart defects, for example, may require more prioritized intervention. The heart defects that can occur with Cat Eye Syndrome are variable in their severity and form. Operations to repair this type of condition are usually carried out as soon as possible and can require single or multiple operations for successful repair. Sometimes, the heart defect does not require surgery but can be medically resolved, for example, with a transcatheter. In the best-case scenario, the defect repairs itself over time, only requiring the patient to take medication to aid in recovery.
Cleft palates seen in this disorder are also quite variable in their severity of size and form. This symptom also requires surgery as a treatment, which the surgeon usually performs when the infant is 12 to 18 months old. Once the cleft itself is repaired, the patient may require further corrective treatment in the form of dental work. Speech problems may also arise even with the corrective surgery, so speech therapy is also often used as a method of treatment.
Finally, many patients with Cat Eye Syndrome are affected with short stature, urinary tract and kidney defects, and scoliosis of the spine. Short stature is often treated with hormone therapy in the form of injections of human growth hormone (HGH). Urinary tract and kidney issues are repaired, as they are in adults, with surgical intervention. Scoliosis, a curvature of the spine, is treated gradually with both surgery and brace therapy.
