How did WAGR syndrome get its name?

How did WAGR syndrome get its name?

Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental retardation. The term “WAGR” stands for the first letters of the physical and mental problems associated with the condition: (W)ilms’ Tumor, the most common form of kidney cancer in children.

How rare is WAGR?

The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million individuals. It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome.

How is WAGR syndrome diagnosed?

WAGR syndrome is diagnosed with genetic testing: A karyotype test can often detect the deletion associated with WAGR syndrome, but may miss smaller-sized deletions. FISH (fluorescent in-situ hybridization) can detect the presence or absence of specific genes on chromosome 11.

Is WAGR syndrome a mutation?

WAGR syndrome/11p deletion syndrome is caused by defects (mutations) of adjacent genes on a region of chromosome 11 (11p13). In most cases, such genetic changes (e.g., deletions at band 11p13) occur spontaneously during early embryonic development (de novo) for unknown reasons (sporadic).

Is WAGR syndrome dominant or recessive?

Isolated aniridia and WAGR syndrome are inherited in an autosomal dominant manner. Isolated aniridia. ~70% of individuals have an affected parent; ~30% have a de novo PAX6 pathogenic variant or deletion of a regulatory region controlling PAX6 expression.

Can females have Jacob’s syndrome?

Being male is the biggest risk factor. Most cases of XYY syndrome are not inherited, and the syndrome occurs randomly in pregnancies of women from all ages and ethnic backgrounds. People normally have 46 chromosomes in each cell.

Is Wilms tumor common?

Wilms’ tumor is the most common type of kidney cancer in children. Wilms’ tumor is a rare kidney cancer that primarily affects children. Also known as nephroblastoma, it’s the most common cancer of the kidneys in children. Wilms’ tumor most often affects children ages 3 to 4 and becomes much less common after age 5.

Can Jacobsen syndrome be detected before birth?

Jacobsen syndrome (JBS) is a rare chromosomal disorder with variable phenotypic expressivity, which is usually diagnosed in infancy and childhood based on clinical examination and hematological and cytogenetic findings. Prenatal diagnosis and fetal ultrasonographic findings of JBS are rare.

How is the diagnosis of WAGR syndrome made?

In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. While aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Chromosomal analysis is necessary for definitive diagnosis. Other common eye defects include cataracts and ptosis.

How many Wilms tumors are caused by WAGR syndrome?

It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome. WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11.

What does WAGR stand for in medical category?

WAGR syndrome/11p deletion syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. “WAGR” is an acronym for the characteristic abnormalities associated with the syndrome.

What causes WAGR syndrome / 11p deletion syndrome-Nord?

Causes. WAGR syndrome/11p deletion syndrome is known as a “contiguous gene syndrome”, meaning that it is caused by defects (mutations) of adjacent genes on a particular chromosome. In many affected individuals, the syndrome is thought to result from deletion of one copy of chromosome 11 at band p13 (monosomy).