Ochoa syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at January 10, 2017
StartDiseasesOchoa syndrome

Ochoa syndrome (also known as urofacial syndrome) is an autosomal recessive disorder characterized by two key symptoms: inverted facial expressions and persistent urinary problems. Ochoa syndrome is incredibly rare and has only been diagnosed in approximately 150 individuals. Although rare and seemingly incurable, there are treatments available for Ochoa syndrome.


Definition & Facts

Ochoa syndrome is a rare genetic disorder that involves inverted facial expressions and vesicoureteral reflux. The latter is a urinary tract abnormality in which urine emptied by the bladder flows back into the kidneys because the outlet closes. A 2004 study by Dr. Bernard Ochoa revealed that bowel dysfunction is present in 66 percent of those with this congenital disorder.

Symptoms & Complaints

The most common symptoms of Ochoa syndrome are abnormal facial expressions and difficulties urinating. Both of these symptoms are present at birth. Individuals usually appear to be grimacing due to contractions in the corners of the lips and eyes. This is usually the most telling physical symptom, as it appears from birth.

Those affected with Ochoa syndrome tend to experience swelling in and accumulation of urine in the kidneys and bladder due to backward flow of urine through the urethra. Multiple urinary tract infections are common, as is a frequent urge to urinate, urinary incontinence, difficult or painful passing of urine, lower abdominal pain or groin-area pain, and blood and/or pus in the emptied urine

Adolescents and adults with Ochoa syndrome can develop renal failure if symptoms are left untreated. Renal failure happens when kidneys are no longer able to push out waste products through excretion of urine. Symptoms of renal failure include a noticeable decrease in urine output, swelling in the lower body, fatigue, nausea, confusion, and seizures or coma. Bowel dysfunction is another symptom that occurs in some individuals. 


It is believed that Ochoa syndrome is the result of mutations of HPSE2. The HPSE2 gene is located at chromosome, 10q24.2 and contains instructions for creating the protein heparanase 2. HPSE2 is present in the bladder and central nervous system, and studies show that it has no enzymatic activity.

Ochoa syndrome is an autosomal recessive congenital disorder, meaning that an individual inherits the mutated gene from each parent. Each parent has one normal gene and one abnormal gene, making them genetic carriers. There is a 25 percent chance with every pregnancy that two carrier parents will pass the mutated gene onto their children.

Diagnosis & Tests

Ochoa syndrome is a highly uncommon disorder, and there are only about 150 reported cases. However, symptoms of Ochoa syndrome are often unrecognized or are misdiagnosed. Due to its rarity, there are no set criteria for diagnosing Ochoa syndrome. Doctors require an extensive family history when considering a diagnosis, and an individual will have to undergo specific tests. Oftentimes, individuals presenting with urinary issues will be referred to urologists, who perform clinical urine tests.

Doctors look for the two main markers for Ochoa syndrome: inverted facial expressions and urinary problems. Inverted facial expressions can be recognized at birth, and this may lead to a timely diagnosis, thereby helping the individual avoid potential renal failure in the future. An early diagnosis is the best chance at containing the symptoms of Ochoa syndrome.

During a urological evaluation, doctors use imaging techniques to assess and test the functioning of the ureters, kidneys, and bladder. An intravenous pyelogram (IVP) can help to determine urinary movement. This helpful procedure involves having iodinated contrast material injected into the veins to help X-ray analysis reveal the extent to which the urinary tract is impacted by backward flow of urine.

Since the bladder might also have abnormalities in connective tissue cords and anchoring bands, as well as an overgrowth and hardening of mucous membranes, additional imaging tests might be necessary. These tests can also detect abnormal functioning of the bladder's outer muscular layer and neck as well as in the urethra, which can have an abnormal diameter and experience spasms.

Molecular genetic testing can confirm a diagnosis, and prenatal diagnosis is possible if there is a known or suspected familial history of Ochoa syndrome. Genetic counseling is often helpful. Genetic counseling evaluates family history and involves genetic testing (based on a blood test or biopsy), explaining results to patients, and helping patients figure out options for treatment.

Treatment & Therapy

If left untreated, there will be permanent damage to the kidneys and bladder. Treatment should commence as early in life as possible to prevent severe issues from developing and could involve an integrated team of pediatricians and specialists. Also, treatment is based on the specific needs of an individual since affected people tend to present with different symptoms. 

Treatment for urinary tract infections often involves a combination of antibiotics and pain relievers. Severe cases of urinary blockage might require surgeryAlpha-1-adrenergic blockers (a drug that blocks α1-adrenergic receptors in the central nervous system, arteries, and smooth muscle tissue) and anticholinergic (a drug that blocks acetylcholine in the peripheral nervous system and central nervous systems) medications are sometimes prescribed to treat symptoms of Ochoa syndrome.

Treatment of renal failure can involve dialysis (filtering wastes from the bloodstream). There are two types of dialysis that can be conducted. Peritoneal dialysis involves utilizing abdominal lining to naturally filter waste, which is collected in a surgically implanted catheter. Hemodialysis involves filtering blood through an artificial kidney machine.

Prevention & Prophylaxis

Early detection is the best way to prevent symptoms of Ochoa syndrome from becoming severe. Adults who are considering having children together can look into prenatal genetic counseling to determine whether genetic mutations could possibly occur.

Facial expressions and urinary tract issues (especially when they are co-occurring) are the most telling symptoms of Ochoa syndrome. Any individual who suspects they or their loved one might have Ochoa syndrome should consult a doctor and inquire about a diagnosis through a combination of genetic testing and specialized imaging techniques.