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WAGR syndrome
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WAGR syndrome

Other Resources UpToDate PubMed

Synopsis

WAGR syndrome (11p deletion syndrome, WAGR complex, and Wilms tumor-aniridia syndrome) is a rare genetic multisystem disease defined by its primary clinical features: Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation (intellectual disability). Most patients have 2 or more of these features. Approximately half of patients will develop Wilms tumor. WAGR syndrome is caused by a deletion of genes located on chromosome number 11 (11p13). It is not usually inherited, though a minority of patients may inherit a chromosome 11 with a deleted segment from an unaffected parent.

Signs such as aniridia (complete or partial absence of iris) are typically noticed shortly after birth. In infant boys, genital and urinary anomalies are typically apparent within the newborn period. Sexual assignment may be challenging in some patients, due to possible genital development abnormalities present at birth. Other manifestations become apparent as the child grows older.

Ocular conditions that may develop include cataract, nystagmus, and glaucoma. Boys may present with hypospadias or cryptorchidism. Girls may present with underdeveloped ovaries or malformed uterus, fallopian tubes, or vagina. Intellectual disability and developmental delay are common, although severity is variable; some patients will have normal intelligence. Other symptoms may include behavioral, and/or psychiatric disorders, early-onset obesity, polyphagia, hyperphagia, chronic kidney failure (usually after age 12), sleep apnea, frequent ear, nose, and throat infections, epilepsy, and pancreatitis. Patients may have an increased risk of gonadoblastoma, a genitourinary cancer affecting the testes or ovaries.  

Treatment is targeted at managing specific symptoms. Regular checkups are essential for continuous monitoring and timely interventions.

For more information, see OMIM.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
4135001 – 11p partial monosomy syndrome

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Last Updated:10/02/2018
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WAGR syndrome
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WAGR syndrome : Developmental delay
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