This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Ochoa syndrome is a very rare condition that causes unusual facial expressions and problems with urination. People with this condition have a characteristic frown-like facial expression when they try to smile or laugh, often described as “inversion” of facial expression. Urinary tract problems may include the inability to control urination (incontinence), inability to completely empty the bladder, and the buildup of urine in the kidneys (hydronephrosis). These problems often start in early childhood or adolescence and may lead to eventual kidney failure. Other signs and symptoms may include constipation, loss of bowel control and/or muscle spasms of the anus. Ochoa syndrome can be caused by a non-working HPSE2 or LRIG2 gene and is inherited in an autosomal recessive manner. It can be diagnosed based on the symptoms. Treatment may involve surgery, antibiotics and medications to decrease bladder hyperactivity.
For more information, visit GARD.