Guide To The Complications Of Noonan Syndrome

Noonan syndrome is a genetic condition that can cause differences in facial features and results in short stature. Patients with this syndrome frequently have cardiac issues such as irregular heart rhythms and thickening of the heart muscle, and they may also experience developmental delays. Blood tests can be performed to diagnose Noonan syndrome, and prenatal testing may be available too. Doctors might also suspect a diagnosis of Noonan syndrome after completing a physical exam. Since signs of the condition are subtle, some patients with Noonan syndrome do not get properly diagnosed until adulthood. Currently, the syndrome is estimated to occur in one out of every one thousand to 2,500 individuals. Treatment for the condition is tailored to the specific needs of each patient. Patients with heart problems are treated by cardiologists, and surgery may be necessary. Treatment with growth hormones may be appropriate for those with short stature, and early intervention and stimulation can help patients with learning differences. Of course, if treatment is not begun promptly, there is a risk of complications.

Some of the potential complications of Noonan syndrome are outlined below.

Excessive Bleeding And Bruising

Noonan syndrome typically causes patients to experience excessive bleeding and bruising. For example, the patient may bleed for longer than normal after a minor scratch or cut, and bruises may appear following minor knocks or bumps. To monitor bleeding and bruising, it may be helpful to keep a journal of the dates of any cuts, knocks, or injuries and when bleeding or bruising appeared. Information on the location and size of any bruises may be useful as well. Any cuts should be monitored for the presence of pus or other signs of infection, and bruises should be observed for changes in size. Any signs of infection or indications of an increase in the size of a bruise should be brought to a doctor's attention. Patients with Noonan syndrome are generally advised to avoid the use of acetylsalicylic acid in any form, and doctors may need to prescribe medications that assist in clot formation for affected individuals. Patients with this syndrome should notify their doctors and dentists about their condition before having any dental or surgical procedure.

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Higher Risk Of Cancer

Noonan syndrome patients are at a higher risk of cancer compared to the general population. Specifically, there is an increased risk of leukemia (especially juvenile myelomonocytic leukemia and acute lymphoblastic leukemia) for individuals with this condition. Noonan syndrome can also increase the risk of neuroblastoma (a cancer of the nerves) and embryonal rhabdomyosarcoma (a type of muscle cancer). Patients are at an elevated risk of developing certain kinds of benign tumors, including giant cell lesions and granular cell tumors. While Noonan syndrome does increase a patient's chances of getting cancer, the increase in risk is currently believed to be very slight. Doctors recommend that patients with this condition receive the same cancer screenings advised for the general population; no additional screenings are recommended at this time. Patients with this syndrome will receive frequent monitoring from healthcare professionals, and they should mention any lumps, swollen lymph nodes, pain, coughing, vision changes, or unintended weight loss to their doctors.

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Developmental Delays

Developmental delays are a potential complication for patients with Noonan syndrome. However, many individuals with this syndrome do not have any learning difficulties at all. If learning difficulties are present, they most often affect the child's understanding of spatial sense and organization. Early interventions, including speech therapy and occupational therapy, can help patients learn skills and find adaptations that help them complete certain tasks. Most children with Noonan syndrome can attend mainstream schools, and individualized education plans can be created as needed. These plans are made with the help of the child's parents, teachers, and doctors, and they include information on modifications to be provided for the child. For example, an individualized education plan might allow a child to have extra time when taking an exam, or it could include arrangements for the child to take the test in a quiet area away from other students. Children with developmental delays will often need to have annual testing so their individualized education plans can be updated as they grow.

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Complications With The Lymphatic System

Noonan syndrome may trigger a variety of complications with the patient's lymphatic system. The lymphatic system helps the body fight off infection, and it is also responsible for draining excess fluid from the body. Infants with Noonan syndrome may have puffy hands and feet as a result of lymphatic issues, and older children and adults might experience an abnormal accumulation of fluid beneath the skin, medically known as edema. Edema typically occurs in the feet, ankles, and lower legs. Noonan syndrome could also trigger a buildup of fluid around the heart or lungs, and this could produce shortness of breath and chest pain. Since this can be very serious, patients experiencing any breathing changes or chest pain should have an urgent medical evaluation. If doctors identify excessive fluid, it can often be drained, and surgical interventions may be beneficial.

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Increased Risk Of Urinary Tract Infections

Patients with Noonan syndrome may have structural differences in the kidneys that put them at an increased risk of urinary tract infections. These infections, which are more common in women, can cause a burning sensation during urination, and patients may find they have reduced urine output. The urine could have a stronger odor than normal, and it might be cloudy. Some patients with urinary tract infections notice pelvic pain concentrated around the central area of the pelvis. An analysis of the patient's urine can be performed to diagnose a urinary tract infection, and some patients may need to have an ultrasound or CT or MRI scans. A cystoscopy is sometimes recommended to allow the doctor to examine the bladder more closely. Treatment for a urinary tract infection typically begins with a course of oral antibiotics. Trimethoprim, nitrofurantoin, and cephalexin are frequently prescribed, and patients with more complicated infections may need to have intravenous antibiotics in a hospital setting.