More than 90 percent of individuals with WAGR syndrome have Auditory Processing Disorder (APD).

APD affects the way the brain receives, organizes, and processes sound. Children and adults with APD usually have normal hearing. But they cannot process the information they hear in the same way as others do. This leads to difficulty recognizing and interpreting sounds, especially sounds involved with speech.

APD may be mild, moderate, or severe. Mild to moderate APD may result in problems following directions or understanding conversation in a noisy environment, such as a classroom or restaurant. Severe APD may interfere with understanding or developing speech. 

Early diagnosis and treatment of APD can make a big difference in a child's behavior and ability to communicate and learn.

Learn more about symptoms, diagnosis, and treatment of APD in WAGR syndrome:

Sensory Processing Difficulties: What Are They and How Can Parents Help?

"What is Sensory Processing Disorder?" Learn more about symptoms, diagnosis, and treatment 

Making Sense of Sensory Behaviour: A Practical Approach for Parents and Carers 

• Anxiety Disorder involves persisent or excessive feelings of worry, anxiety or fear. Symptoms include stress that is out of proportion to an event, inability to set aside worry, and restlessness
• Attention Deficit Hyperactivity Disorder (ADHD) involves difficulty paying attention, controlling impulsive behaviors, or being overly active
• Autism While some children with WAGR syndrome are diagnosed with Autism, most have autistic-like behaviors that are the result of Intellectual Disability, Vision Impairment, Sensory Processing Disorder, Auditory Processing Disorder, Anxiety Disorder, or some combination of these. Accurate diagnosis is important to prescribing a treatment plan that effectively addresses the child's needs
• Depression involves persistently depressed mood or loss of interest in activities. Symptoms may include changes in sleep, appetite, energy level, concentration or self-esteem

• Obsessive-Compulsive Disorder involves excessive thoughts (obsessions) that lead to repetitive behaviors (compulsions). Symptoms may include the need to repeat words or phrases or to arrange objects in a specific manner
• Tantrums and "meltdowns" are intense responses to overwhelming situations or emotions. Chronic tantrums and meltdowns are very common in WAGR syndrome, and may have many different causes--from an inability to communicate, to Sensory Processing Disorder, to physical illness or pain. Effective treatment relies on pinpointing the cause but can make a dramatic difference in quality of life for the individual and family

Learn more about diagnosis and management of behavioral problems and psychiatric disorders in WAGR syndrome:

Learn more about Screening at Birth or Diagnosis here:

Screening Guidelines for Kidney Health throughout the lifespan are available here:

Frequently reported problems include:

• Low-set ears or pinna abnormalities abnormal shape or position of the outer ear
• Enlarged tonsils and/or adenoids requiring tonsillectomy/adenoidectomy
• Recurrent otitis media frequent middle ear infections
• Tympanostomy tubes small tubes placed in the eardrum to help drain fluid out of the middle ear
• Recurrent sinusitis frequent sinus infections
• High-arched palate unusually high or narrow palate
• Narrowing of the pharynx smaller than normal caliber of the pharynx
• Severe dental malocclusion misaligned teeth
• Small, missing, or misshapen teeth
• Delayed loss of primary ("baby") teeth
• Abnormal brainstem response or Auditory Evoked Potential these hearing tests are abnormal in 50 percent of patients with WAGR syndrome

Less frequently reported problems include:

• Hearing impairment (sensorineural hearing loss)
• Micrognathia (small jaw)
• Cleft palate
• Enlarged parietal foramina (abnormally large or extra "soft spots" on the head, in addition to the two that typical newborns have). In some individuals, enlarged parietal foramina may represent an additional syndrome called "Potocki-Shaffer syndrome." Potocki-Shaffer syndrome may be present if the individual's genetic deletion extends to Chromosome 11p11.2

Learn more about Potocki-Shaffer syndrome:

Both acute and chronic pancreatitis may occur in individuals with WAGR syndrome.

The risk for pancreatitis is increased if the person has elevated triglycerides (a type of fat in the blood).

Propofol, a medication frequently used in general anesthesia, may increase the risk of acute pancreatitis in patients with WAGR syndrome who also have elevated triglycerides.

Learn more about Pancreatitis in WAGR syndrome:

Gastroesophageal Reflux Disease (GERD) occurs when stomach acid flows back into the tube connecting the mouth and the stomach (esophagus). The backwash of acid reflux can be painful and can irritate the lining of the esophagus. GERD in children with WAGR syndrome can interfere with feeding, and can cause vomiting, gagging, coughing, and trouble breathing. In some cases GERD can lead to reflux of stomach acid into the airways, causing pneumonia. 

Learn more about GERD:

Chronic constipation is frequently reported in children and adults with WAGR syndrome. Home treatments include increasing physical activity, fluids, and dietary fiber, and giving prune or pear juice may be helpful in the short term. When these measures are not successful, or when considering the addition of dietary supplements such as probiotics or the use of laxatives, a gastroenterologist (doctor who specializes in disorders of the digestive system) should be consulted.

Less frequently reported:

• Feeding problems including food refusal thought to be related to Sensory Processing Disorder 
• Gallbladder problems, including cholesterolosis and gallstones
• Intestinal malrotation occurs when the intestines do not rotate properly before birth. May be complete, or partial (appendix located in midline of body instead of on the right side)
• Diaghragmatic hernia occurs when there is a hole in the large muscle that separates the chest from the abdomen, allowing organs in the abdomen to move upward into the chest
• Biliary atresia occurs in infants when the bile ducts of the liver are scarred or blocked. This blockage may lead to loss of liver tissue and function, may require liver transplantation

• Obesity In some individuals obesity may be related to BDNF gene deletion. 50% of individuals with WAGR syndrome have BDNF gene deletion (see BDNF gene deletion, above)
• Insulin Resistance is when cells in the muscles, fat, and liver don't respond well to insulin and can't easily take up glucose from the blood. As a result, the pancreas makes more insulin. Over time, a person's cells can become so resistant to insulin that levels of glucose in the blood become elevated
• Diabetes is a chronic disease that occurs when blood glucose (sugar) levels are too high. Diabetes can lead to damage of the heart, kidneys, eyes, and nerves. Depending on the individual's needs, diabetes may be managed with diet, oral medication, or insulin injections

• Precocious Puberty is when a child's body changes into an adult too soon (before age 8 in girls, before age 9 in boys)
• Dyslipidemia is an abnormal amount of lipids (cholesterol, or fats such as triglycerides) in the blood. In individuals with WAGR syndrome, dyslipidemia is frequently associated with chronic pancreatitis or chronic kidney disease

Learn more about symptoms, diagnosis, and treatment of dyslipidemia:

• Hypotonia/Hypertonia are disorders of muscle tone
  • Hypotonia refers to decreased muscle tone and too much flexibility
  • Hypertonia refers to too much muscle tone, and difficulty with mobility and flexibility
• Toe-walking A pattern of walking on the balls of the feet, with little or no contact between the heels and the ground
• Metatarsal adductus Front half of the foot turns inward
• Talipes also called Club Foot. The foot points downward and inward
• Syndactyly Fingers fused together

• Clinodactyly Curvature of a finger to the side
• Hemihyperplasia A condition in which one side of the body or a part of one side of the body is larger than the other to an extent greater than normal variation
• Short Stature is when a person's height is well below the average for a person of the same age, gender, and ethnicity
• Scoliosis Sideways curvature of the spine
• Osteochondromatosis A disorder characterized by the development of benign bone tumors. In some individuals osteochondromatosis may represent and additional syndrome called "Potocki-Shaffer syndrome."  Potocki-Shaffer syndrome may be present if the individual's genetic deletion extends to Chromosome 11p11.2 

Learn more about Potocki-Shaffer syndrome:

• Hypoplastic Pineal Gland underdevelopment of the pineal gland, a structure in the brain that produces the sleep hormone melatonin
• Agenesis of corpus callosum partial or complete absence of the area of the brain that connects the two cerebral hemispheres 
• Absent or Hypoplastic (underdeveloped) Cranial nerves
  • Cranial Nerve I: Olfactory Nerve is responsible for the sense of smell
  • Cranial Nerve VI: Abducens Nerve is responsible for outward eye gaze

• Intracranial Hypertension occurs due to high pressure within the spaces that surround the brain and spinal cord
• Epilepsy is a neurological condition which affects the nervous system. Epilepsy is also known as seizure disorder

Learn more about symptoms, diagnosis, and treatment of Epilepsy/Seizure Disorder: