People with WAGR syndrome are at increased risk for certain health problems compared to the general population. This section offers information about these health issues.
It is important to remember that some individuals with WAGR syndrome may have one or a few of these conditions, but none will have all of them.
Anxiety, Depression, or Obsessive-Compulsive Disorder (OCD)
These are mental health conditions with symptoms such as persistent or excessive worry or fear (Anxiety) persistent or excessive feelings of sadness or loss of interest (Depression) or uncontrollable, unwanted thoughts and repetitive, ritualized behaviors (Obsessive-Compulsive Disorder).
Read more about symptoms, diagnosis, and treatment: www.mayoclinic.org
Attention Deficit Disorder (ADD), Attention Deficit Hyperactivity Disorder (ADHD)
ADD and ADHD are behavioral disorders with symptoms that may include poor concentration, impulsivity, difficulty staying focused, difficulty controlling behavior, and hyperactivity (over-activity).
Read more about symptoms, diagnosis, and treatment: www.nimh.nih.gov
Auditory Processing Disorder (APD), or Central Auditory Processing Disorder (CAPD)
These are terms for a variety of disorders that affect the way the brain processes auditory information. Individuals with APD usually have normal structure and function of the outer, middle and inner ear (peripheral hearing). However, they cannot process the information they hear in the same way as others do, which leads to difficulties in recognizing and interpreting sounds, especially the sounds composing speech. It is thought that these difficulties arise from dysfunction in the central nervous system (i.e., brain).
Read more about symptoms, diagnosis, and treatment: www.asha.org/
Autism or Autism Spectrum Disorder (ASD)
Autism is a lifelong developmental condition that affects the way an individual relates to his or her environment and their interaction with other people.
Note: Autism or Autism Spectrum Disorder may be overdiagnosed in children with WAGR syndrome.
Read more about symptoms, diagnosis, and treatment: www.ninds.nih.gov
Chronic kidney disease (Focal Segmental Glomerulosclerosis, FSGS)
Approximately 60% of individuals with WAGR syndrome develop chronic kidney disease/renal failure at some point in their lives, most often during adolescence or early adulthood. Symptoms may include high blood pressure and protein in the urine. Elevated risk for chronic kidney disease includes individuals with WAGR syndrome who have never had Wilms tumor.
Read more about symptoms, diagnosis, and treatment: Q & A on WAGR Syndrome and Chronic Kidney Disease
Decreased Behavioral Response to Pain
Individuals with WAGR syndrome whose genetic deletion involves the BDNF (Brain-derived neurotrophic factor) gene are at increased risk for a decreased behavioral response to pain. Parents and physicians may need to be particularly vigilant to avoid delays in diagnosis of injuries or illness, as children/adults with this condition may not exhibit typical signs of discomfort.
See: Pain Perception
Dyslipidemia is an abnormal amount of lipids (cholesterol and/or fat) in the blood. Dyslipidemia is associated with an elevated risk for heart disease. In individuals with WAGR syndrome, dyslipidemia may also be associated with chronic kidney disease and/or chronic pancreatitis.
Read more about symptoms, diagnosis, and treatment: www.nhlbi.nih.gov
Epilepsy is a neurological condition which affects the nervous system. Epilepsy is also known as a seizure disorder. Epilepsy/seizure disorders are more common in children/adults with WAGR syndrome than in typical people.
Read more about symptoms, diagnosis, and treatment: www.healthline.com
Hyperphagia is an abnormally increased appetite for and consumption of food. Individuals with WAGR syndrome whose genetic deletion involves the BDNF gene are at increased risk for this condition.
Read more about Food Management: www.pwcf.org
NOTE: Hyperphagia is common in both WAGR syndrome and Prader-Willi syndrome, but the two syndromes are not related.
Obesity is an excessively high amount of body fat in relation to lean body mass. Individuals with WAGR syndrome whose deletion involves the BDNF gene are at increased risk for early onset obesity (occurring before age 10).
Pancreatitis is an inflammation of the pancreas, a large gland located behind the stomach. Pancreatitis may be acute or chronic. An episode of pancreatitis can cause significant pain, and in rare cases can be life-threatening. Chronic pancreatitis is not common in typical children, so it is important for parents and physicians to be aware of the risk for this condition in children with WAGR syndrome. Children/adults with WAGR syndrome may also have an increased risk for acute pancreatitis if they have hyperlipidemia (an elevated level of cholesterol in the blood), and are exposed to propofol (Diprivan) a medication frequently given before/during surgery.
Read more about symptoms, diagnosis, and treatment: Pancreatitis and WAGR syndrome
Potocki-Shaffer syndrome (also known as proximal 11p deletion syndrome) is caused by a deletion of genetic material from the short (p) arm of chromosome 11 at a position designated 11p11.2. Some individuals with WAGR syndrome have genetic deletions which encompass this region. These individuals may have symptoms of both disorders. Symptoms of Potocki-Shaffer syndrome include multiple non-cancerous (benign) bone tumors called exostoses, and enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina).
Read more about symptoms, diagnosis, and treatment: ghr.nlm.nih.gov
Scoliosis (curvature of the spine) is more common in children/adults with WAGR syndrome than in typical people.
Read more about symptoms, diagnosis, and treatment: www.niams.nih.gov
Sensory Processing Disorder (SPD) or Sensory Integration Disorder
Sensory Processing Disorder is a condition that exists when information from the various senses (vision, hearing, touch, taste, smell, balance and position of the body) is not adequately processed in order to provide appropriate responses to the demands of the environment. Children with SPD may be very distressed by light or unexpected touch, very sensitive to sound (volume or frequency), have an unusually high or low threshold for pain, or be very bothered by some types of lights or patterns.
Read more about symptoms, diagnosis, and treatment: sensorysmarts.com
Sleep apnea is a sleep disorder characterized by pauses in breathing or instances of shallow or infrequent breathing during sleep. Each pause in breathing, called an apnea, can last for several seconds to several minutes. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound. Sleep apnea is more common in children/adults with WAGR syndrome than in typical people.
Read more about symptoms, diagnosis, and treatment: www.nhlbi.nih.gov
Children and adults with WAGR syndrome frequently have difficulties with sleep. These difficulties may include trouble falling asleep or problems with staying asleep through the night. Sleep disorders in people with WAGR syndrome are thought to be the result of an absent or underdeveloped pineal gland. The pineal gland is located in the brain, and produces melatonin, a hormone which helps the body regulate sleep. A melatonin supplement may be helpful for children and adults with WAGR syndrome to improve the timing, amount, and overall quality of sleep.
Last updated: May, 2015
Kelly Trout, BSN, RN
International WAGR Syndrome Association