WAGR Syndrome is a rare genetic disorder that affects children from birth. It is a condition that severely affects a person’s quality of life due to many abnormalities caused from the disorder. The underlying cause of the condition is the abnormality of chromosome 11, resulting in missing or faulty surrounding genes.
The syndrome begins at birth, with the child being diagnosed with one or more of three conditions: aniridia, genitourina malformations (GU), and/or mental retardation. Having one or more of these conditions is considered as having the AGR disorder. People born with AGR have a significantly higher risk of developing a Wilm’s tumor. With the development of this tumor, the condition then becomes known as WAGR.
Congenital anomalies of the genitals and the urinary tract are known as genitourina malformations (GU). This condition is detected in the perinatal stages. This condition can cause complications such as impaired renal function, sexual dysfunction, or urinary tract infections.
The Wilm’s tumor, also known as Nephroblastoma, is a cancer of the kidneys. This is the most common form of cancer among children. Although the disease is intense, the survival rate from this tumor is high being as much as 87% for patients in stage 5 of the disorder.
1. Visual Impairment
Aniridia is the cause of visual impairment in people with WAGR Syndrome. Aniridia is the most common symptom of WAGR syndrome and usually the first indicator. Due to the missing or incomplete iris, visual impairment can manifest itself in many different ways. Some of these ways include:
Cataracts
Cataracts This is a condition in which a person’s eye lens becomes cloudy or foggy. Untreated, this condition can result in blindness. Treatment can include replacing the lens with an artificial lens.
Glaucoma
Glaucoma
This is a condition where fluid build-up causes increasing pressure on the eyeball over time. This results in damage to the optic nerve that causes progressive vision loss. Glaucoma can be treated with eye drops, medication, or surgery, but can not be cured. It is the leading cause of blindness in the United States.
Nystagmus
Nystagmus This is a condition that results in rapid, uncontrolled eye movements. The eyes may move up and down, side to side or in a circular motion. Although this doesn’t cause vision loss, it can cause blurred vision, loss of balance, or problems with depth perception.
Some types of visual impairment can be treated in a number of different ways. This can include medicine or surgery.
2. Abnormal Hearing
Abnormal hearing can be a symptom of WAGR disorder, but not in the sense that the person will have trouble with the volume of hearing things. The ear can be compared to a brand new cell phone with bad service–no matter how loud you talk or how good the phone is the person on the receiving end won’t be able to properly hear what you are saying because the service is poor. The ear’s structure will be normal in shape, size, and construction but the brain may not interpret the sounds correctly, which can lead to difficulty in recognizing sounds and problems with speech recognition. These conditions are known as Auditory Processing Disorder (APD) or Central Auditory Processing Disorder (CAPD).
[nextpage title=“Next” ]3. Mental Deficiency
Mental deficiency is a common symptom of WAGR disorder, but the level of deficiency can greatly vary from mild to severe. Many children may have no mental deficiency at all and can even have higher than normal IQ’s. Mental deficiencies can manifest in different forms such as intellectual deficiencies, mental health problems, or behavioral issues. Examples of these can include:
- ADD or ADHD
- Anxiety
- Slow learning disability
- Depression
- Autism
- Obsessive Compulsive Disorder
The mental deficiencies can be lone conditions or can affect the child as a group of conditions. Most of these conditions can be treated through medication or therapy.
[nextpage title=“Next” ]4. Anirida
Aniridia is usually detected in the perinatal period. This condition is marked by a full or partial absence of the iris due to a missing or faulty PAX6 gene. Aniridia causes many complications of the eye resulting in visual impairment. Treatment of aniridia depends on the type of visual impairment that it would inflict of the person. Some impairments can be fully treated and reversible and others can only be treated to make quality of vision a little better. In May of 2018, the first artificial iris was approved by the FDA for surgical implant into adults and children suffering from Aniridia.
[nextpage title=“Next” ]5. Short Stature
Short stature, a condition in which a child is abnormally small and remains that way throughout their life, is a very rare symptom of WAGR that can cause an a child to have an abnormal rate of growth for their age. This can be due to muscle deformities or weakness that occurs in children at an early age from WAGR. Short stature is also commonly caused by a mutation in or near the SHOX gene. This gene could be affected by the abnormalities in chromosome 11, which is the primary cause of WAGR. Short stature can not be treated or cured, but conditions stemming from the disorder can be treated.
[nextpage title=“Next” ]6. Ptosis
While Ptosis is a condition of the eye, it isn’t exactly a visual impairment. Ptosis is a drooping of the eyelid due to weak or dysfunctional muscles in the eyelid. It can also be caused by nerve damage in the eyelid. Ptosis can occur in one or both eyelids. WAGR can sometimes affect a child’s muscle growth and development, including the eye muscles, and as a result children with WAGR can sometimes also suffer from Ptosis. Ptosis doesn’t necessarily have to be corrected, but can be corrected with surgery if it impairs vision or if the person or parents of the child are concerned for cosmetic reasons.
[nextpage title=“Next” ]7. Obesity
WAGR syndrome at some times can turn into an early onset of obesity. Obesity combined with high cholesterol levels can be harmful to one’s health if they are suffering from WAGR syndrome. While WAGR syndrome is genetic, there are certain dietary suggestions one should follow if they were diagnosed with WAGR syndrome.
