WAGR stands for Wilms tumor- Aniridia- Genitourinary anomalies (or gonadoblastoma) and Retardation (intellectual disability). It is also called as aniridia-Wilms tumour syndrome, Wilms tumour-aniridia syndrome, and WAGR complex.
It is basically a rare genetic syndrome which affects the children. The children who have WAGR syndrome are liable to develop Wilms tumour which is a kidney tumour, Aniridia, a condition characterized by the absence of iris (colored portion of eyes), Genitourinary anomalies which sometimes include tumours of gonads (ovaries and testes) and Retardation.
The name is derived from the main features of the syndrome.
The people who suffer from this rare condition are 45 percent to 60 percent more likely to develop Wilms tumour which is a rare kind of cancer of kidney. Children are more susceptible, but it can affect adults too.
Majority of people who are suffering from this syndrome have aniridia, a condition where the colored part of the eye called as iris is not present. The absence of iris causes visual acuity (reduction in sharpness of vision). It also leads to photophobia (higher sensitivity to light).
The first sign that comes to the notice of people in WAGR syndrome is aniridia. It can be accompanied by other eye conditions too like glaucoma (increased pressure in eyes), nystagmus (involuntary movements of the eyes) and cataract (a clouding of the lens of eyes).
Genitourinary anomalies are more common in males as compared to females. The males who are suffering from WAGR are more likely to suffer cryptorchidism (undescended testes). Females pose with conditions like non- functional ovaries and have streak gonads which are undeveloped clumps of tissues. The females might also pose with other issues like bicornate (heart- shaped) uterus.
Intellectual disability or retardation is another feature of this rare syndrome. The individuals who are affected by this syndrome find it very difficult to respond, process information or learn anything. Many also showcase behavioural issues and psychaiatric conditions like depression, ADHD (attention deficit hyperactivity disorder), anxiety, autism and OCD (obsessive- compulsive disorder).
Signs and Symptoms of WAGR Syndrome
- A newborn child who has WAGR syndrome develops aniridia. It is the first noted symptom. Genital anomalies give a lead to diagnosis. But, they are generally absent especially in girls.
- In the older children, the diagnosis of WAGR can only be made when aniridia is present with any other feature of the syndrome.
- Women who suffer from WAGR syndrome have streak ovaries. This also increases their chance of having gonadoblastoma by leaps and bounds.
- In many cases vagina or uterus are also malformed.
Management of WAGR Syndrome
Children who have WAGR syndrome need strict kidney surveillance. They are monitored thoroughly. They get regular kidney check-ups (3 to 4 yearly) until they reach the age of 6 to 8 years. After this, they are constantly kept under the follow- up process.
Follow- up is considered important because the risk of occurrence of neuropathy later in life is common (40 percent patients above 12 years of age).