What are the other Names for this Condition? (Also known as/Synonyms)

• Hydronephrosis with Peculiar Facial Expression
• Partial Facial Palsy with Urinary Abnormalities
• Urofacial Syndrome (UFS)

What is Ochoa Syndrome? (Definition/Background Information)

• Ochoa Syndrome is a condition characterized by unusual facial expressions and urinary problems. Affected individuals have a characteristic frown-like facial expression when they try to smile or laugh, often described as "inversion" of facial expression; this may appear as early as an infant begins to smile
• The urinary problems associated with the condition, which typically become apparent in early childhood or adolescence, may include incontinence, inability to completely empty the bladder, urinary tract infection, hydronephrosis, and eventual kidney failure
• Other signs and symptoms may include constipation, loss of bowel control and/or muscle spasms of the anus
• The syndrome can be caused by mutations in the HPSE2 gene and is inherited in an autosomal recessive manner
• Treatment, which may involve bladder re-education, prophylactic antibiotics, anticholinergic therapy (to decrease bladder hyperactivity), and alpha-blockers, is important in the prevention of upper urinary tract deterioration and renal failure

(Source: Ochoa Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Ochoa Syndrome? (Age and Sex Distribution)

• Ochoa Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Ochoa Syndrome? (Predisposing Factors)

• A positive family history is an important risk factor, since Ochoa Syndrome can be inherited

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ochoa Syndrome? (Etiology)

Ochoa Syndrome can be caused by mutations in the HPSE2 gene. This gene has been implicated in control of facial expression, urinary voiding and bladder smooth muscle function.

• The gene provides instructions for making a protein called heparanase 2; however, the exact function of this protein is currently not well understood
• Some people with Ochoa Syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown
• Ochoa Syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations

(Source: Ochoa Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Ochoa Syndrome?

The signs and symptoms of Ochoa Syndrome may include:

• Abnormal facial expression
• Abnormal facial shape
• Enuresis
• Hydroureter
• Urethral valve

Very frequently present symptoms in 80-99% of the cases include recurrent urinary tract infections.

Frequently present symptoms in 30-79% of the cases:

• Constipation
• Cryptorchidism
• Hydronephrosis
• Urethral obstruction
• Urinary incontinence
• Vesicoureteral reflux

Occasionally present symptoms in 5-29% of the cases:

• Bowel incontinence
• Hypertension
• Polydipsia
• Renal insufficiency

(Source: Ochoa Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Ochoa Syndrome Diagnosed?

Ochoa Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the Possible Complications of Ochoa Syndrome?

The complications of Ochoa Syndrome may include:

• Severe kidney dysfunction
• Renal failure
• Surgical complications

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Ochoa Syndrome Treated?

Treatment for Ochoa Syndrome focuses on the specific symptoms that are present in each individual.

• Management may require the coordinated efforts of a team of specialists, which may include pediatricians, urologists, nephrologists, surgeons, dietitians, and/or other healthcare professionals
• Early diagnosis and treatment are necessary to prevent upper urinary tract deterioration and renal failure
• In many cases, therapy for urinary tract infections includes antibiotics for the treatment and prevention of bacterial infections and pain relievers
• Treatment may also involve bladder re-education, anticholinergic therapy and alpha-blockers
• In some cases, surgery may be needed to correct urinary tract obstruction and reconstruct certain portions of the urinary tract
• Intermittent catheterization may also be needed
• In affected children who experience chronic renal failure, dialysis (hemodialysis and/or peritoneal dialysis) may be necessary
• Kidney transplantation may be considered for individuals with severe renal failure

(Source: Ochoa Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Ochoa Syndrome be Prevented?

Currently, Ochoa Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Ochoa Syndrome? (Outcomes/Resolutions)

• The prognosis of Ochoa Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Ochoa Syndrome:

Ochoa Syndrome is also known by the following names:

• Inverted Smile and Occult Neuropathic Bladder
• UFS (Urofacial Syndrome)
• Urofacial Ochoa's Syndrome

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/diseases-conditions/rare-disorders/