SNP Shot: Genomic Insights

Ochoa syndrome is a condition defined by both urinary issues and distinctive facial expressions.

The urinary problems associated with Ochoa syndrome usually manifest in childhood or adolescence. Individuals affected may experience urinary incontinence, leading to bedwetting, and have trouble completely emptying their bladder. This can frequently cause vesicoureteral reflux, where urine flows backward into the ureters (the tubes connecting the kidneys to the bladder). Urine can also build up in the kidneys (hydronephrosis). These issues (vesicoureteral reflux and hydronephrosis) can lead to frequent urinary tract infections and kidney inflammation (pyelonephritis), potentially causing kidney damage and, ultimately, kidney failure.

People with Ochoa syndrome also display a unique facial expression: a frown-like grimace when attempting to smile or laugh. This is often referred to as an inversion of facial expression. Although this feature might appear before the urinary symptoms, even as early as when an infant starts smiling, it often goes unnoticed by medical professionals.

Around two-thirds of individuals with Ochoa syndrome also have bowel dysfunction, including constipation, loss of bowel control, or anal muscle spasms.

Inheritance:

Ochoa syndrome follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are usually unaffected and do not exhibit symptoms of the syndrome.