WAGR syndrome

WAGR syndrome, also known as Wilms tumor-aniridia-genitourinary anomalies-retardation syndrome, is a rare genetic disorder that affects multiple body systems.

Main Features:

• Wilms Tumor: A type of kidney cancer that occurs in children.
• Aniridia: The absence or underdevelopment of the iris, which is the colored part of the eye.
• Genitourinary Anomalies: Abnormalities in the urinary tract and genitalia.
• Range of Developmental Delays: Intellectual disability, delayed speech, and other developmental delays.

Other Possible Signs and Symptoms:

• Ongoing constipation
• Inflammation of the pancreas (pancreatitis)
• Kidney failure
• Breathing problems

WAGR syndrome is usually not inherited and occurs due to a new genetic mutation in the individual who has the disorder. It can be diagnosed at birth or later in life, based on clinical evaluation, characteristic physical findings, and chromosomal studies.

Prevalence: The prevalence of WAGR syndrome is approximately 1/500,000-1,000,000 people, with no male or female predominance.

Sources:

• [1] (Description)
• [2] (Clinical description)
• [3] (Prevalence)

WAGR syndrome, also known as WAGR complex or 11p deletion syndrome, is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of WAGR syndrome can vary from person to person, but they often include:

• Eye problems: Aniridia (absence of the iris) is typically the first noticeable sign of WAGR syndrome [7]. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), nystagmus (rapid, involuntary movements of the eye), and keratopathy (clouding of the cornea) [1].
• Intellectual disability: Individuals with WAGR syndrome often experience significant intellectual disability [5].
• Vision loss: The development of Wilms tumors is a major factor in early vision loss associated with WAGR syndrome [5].
• Kidney problems: WAGR syndrome can lead to kidney failure, and individuals may also experience ongoing constipation, inflammation of the pancreas (pancreatitis), and breathing problems [6].
• Increased risk of malignancies: Individuals with WAGR syndrome have a predisposition to certain malignancies, including Wilms tumors [4].

It's essential to note that each person with WAGR syndrome may exhibit different signs and symptoms, and not everyone will experience all of these conditions. If you or someone you know has been diagnosed with WAGR syndrome, it's crucial to work closely with a healthcare provider to manage the condition and address any related health concerns.

References: [1] - Context result 1 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7

Diagnostic Tests for WAGR Syndrome

WAGR syndrome, a rare genetic disorder, can be diagnosed through various tests that detect the deletion of genes on chromosome 11 and other associated conditions. Here are some diagnostic tests used to diagnose WAGR syndrome:

• Genetic Testing: Genetic testing is the primary method for diagnosing WAGR syndrome. It involves analyzing the DNA to identify the deletion of genes on chromosome 11, specifically at the 11p13 region [1]. This test can be done through various methods, including:
  • Fluorescent in situ hybridization (FISH) [7]
  • Chromosome analysis or karyotype [3]
• Imaging Tests: Imaging tests such as CT scanning of the chest and abdomen may provide further information about the location and stage of tumors associated with WAGR syndrome [4].
• Ultrasound: Ultrasound is used to detect kidney abnormalities, which are common in WAGR syndrome patients. Full abdominal ultrasound and pelvic ultrasound are recommended for screening [12].
• Other Tests: Other diagnostic tests that may be performed include:
  • Vision therapy to assess vision problems associated with aniridia
  • Neurology testing to evaluate intellectual disability or other neurological symptoms

Diagnostic Teams

A multidisciplinary team of specialists, including:

• Endocrinology
• Genetics
• Nephrology
• Neurology

may be involved in the diagnosis and management of WAGR syndrome [10].

References: [1] - Context 1: WAGR syndrome is a disorder that affects many body systems... [3] - Context 3: WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11... [4] - Context 4: Oct 21, 2022 — CT scanning of the chest and CT or MRI abdomen may provide further information about the location and stage of the tumor. [7] - Context 7: Diagnosis. Infants with isolated Aniridia should be referred for genetic testing. Recommended genetic tests include: Fluorescent in situ hybridization (FISH) [10] - Context 10: Learn about diagnosis and specialist referrals for WAGR syndrome. [12] - Context 12: Screening at Birth or Diagnosis of WAGR Spectrum Start Screening Program • Full abdominal ultrasound • Pelvic ultrasound

Medication Summary for WAGR Syndrome

WAGR (Wilms tumor, Aniridia, Genitourinary abnormalities, and Intellectual disability) syndrome requires a comprehensive treatment approach that includes medication to manage various symptoms.

• ACE inhibitors or ARBs: Medications called "ACE" (angiotensin converting enzyme) inhibitors or "ARBs" (angiotensin II receptor blockers) are used to treat high blood pressure and kidney problems associated with WAGR syndrome [5].
• Surgery and chemotherapy for Wilms tumor: Treatment of Wilms tumor in individuals with WAGR syndrome involves a combination of surgery and chemotherapy. Early diagnosis and appropriate treatment can improve outcomes [8].

Additionally, medication may be prescribed to manage other symptoms such as:

• Glaucoma or keratopathy: Drug therapies may be helpful for glaucoma or keratopathy associated with aniridia [3].
• Hypertriglyceridaemia-associated pancreatitis: Bezafibrate may be a useful therapeutic adjunct in preventing hypertriglyceridaemia-associated pancreatitis in WAGR syndrome [7].

It's essential to note that treatment plans are tailored to individual needs and may involve a multidisciplinary approach, including medical professionals from various specialties.

References: [3] Treatment of aniridia is focused on preserving vision. Drug therapies may be helpful for glaucoma or keratopathy. [5] Treatment consists of medications called "ACE" (angiotensin converting enzyme) inhibitors, or "ARBs" (angiotensin II receptor blockers). [7] Bezafibrate may be a useful therapeutic adjunct to the prevention of hypertriglyceridaemia-associated pancreatitis in WAGR syndrome. [8] Treatment of Wilms tumor in individuals with WAGR syndrome involves a combination of surgery and chemotherapy.

Differential Diagnoses for WAGR Syndrome

WAGR syndrome, also known as Wilms tumor-aniridia-genital anomalies-retardation syndrome, is a rare genetic disorder characterized by the presence of four main features: Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. When diagnosing WAGR syndrome, it's essential to consider other conditions that may present with similar symptoms.

Isolated Aniridia

One of the key differential diagnoses for WAGR syndrome is isolated aniridia, which refers to a condition where there is a lack of development of the iris in one or both eyes. Isolated aniridia can occur as an isolated ocular abnormality or as part of other syndromes, including WAGR syndrome.

Anterior Segment Developmental Abnormalities

Another differential diagnosis for WAGR syndrome is anterior segment developmental abnormalities of the eye, which include conditions such as Axenfeld-Rieger syndrome and coloboma of the iris. These conditions can present with similar symptoms to WAGR syndrome, making them important considerations in the differential diagnosis.

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

This rare genetic disorder is characterized by aniridia, cerebellar ataxia, and intellectual disability. While it shares some similarities with WAGR syndrome, it has distinct features that set it apart from WAGR syndrome.

Drash Syndrome

Drash syndrome is a very rare condition that presents with similar symptoms to WAGR syndrome, including Wilms tumor, aniridia, and genitourinary abnormalities. However, Drash syndrome is typically associated with a different genetic mutation than WAGR syndrome.

Other Conditions

In addition to these specific conditions, other general differential diagnoses for WAGR syndrome may include:

• Other rare genetic syndromes that present with similar symptoms
• Congenital anomalies of the genitourinary system
• Intellectual disability due to various causes

It's essential to note that a comprehensive evaluation and diagnostic workup are necessary to accurately diagnose WAGR syndrome and rule out other differential diagnoses.

References: * OMIM# 194070 (WAGR syndrome) * OMIM# 106600 (isolated aniridia) * OMIM# 601583 (anterior segment developmental abnormalities of the eye) * OMIM# 300325 (aniridia-cerebellar ataxia-intellectual disability syndrome) * OMIM# 194080 (Drash syndrome)