WAGR-Syndrom

Beschreibung

WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumour, aniridia, genitourinary anomalies, and a range of developmental delays.

People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumour, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults. Some people with WAGR syndrome develop nephrogenic rests, which are abnormal clumps of cells in the kidneys. These can lead to Wilms tumour, but some people with nephrogenic rests never develop Wilms tumour.

Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can reduce the sharpness of a person's vision (visual acuity) and increase sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus).

Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in males with WAGR syndrome than in affected females. The most common genitourinary abnormality in affected males is undescended testes (cryptorchidism). Affected females may not have functional ovaries and may instead have undeveloped clumps of tissue called streak gonads. Females with WAGR syndrome may also have a heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy to term.

Intellectual disability and other developmental delays are also common in people with WAGR syndrome. Affected individuals often have difficulty processing, learning, and properly responding to information. Many affected individuals have difficulty speaking or understanding language. Some individuals with WAGR syndrome also have psychiatric or behavioural problems such as depression, anxiety, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a developmental disorder called autism spectrum disorder that affects communication and social interaction.

Other signs and symptoms of WAGR syndrome can include ongoing constipation, inflammation of the pancreas (pancreatitis), kidney failure, breathing problems, and allergies. Some affected children have obesity. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome.

Inheritance patterns

The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.

Related genes

• WT1

• PAX6

• BDNF

Other names

11p deletion syndrome

11p partial monosomy syndrome

WAGR complex

WAGR contiguous gene syndrome

WAGR spectrum disorder

Wilms tumour, aniridia, genitourinary anomalies, and mental retardation syndrome

Wilms tumour-aniridia-genital anomalies-retardation syndrome

Wilms tumour-aniridia-genitourinary anomalies-MR syndrome