Ochoa syndrome

Other Names: Hydronephrosis with peculiar facial expression; Urofacial syndrome; Inverted smile and occult neuropathic bladder; Partial facial palsy with urinary abnormalities; Urofacial Ochoa's syndrome; UFS

Ochoa syndrome is a very rare condition that causes unusual facial expressions and problems with urination.

Epidemiology

Ochoa syndrome is a rare disorder. About 150 cases have been reported in the medical literature.

Cause

Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood. Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from functioning. The connection between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain that control facial expression and urination are in close proximity, some researchers have suggested that the genetic changes may lead to an abnormality in this brain region that may account for the symptoms of Ochoa syndrome. Other researchers believe that a defective heparanase 2 protein may lead to problems with the development of the urinary tract or with muscle function in the face and bladder. Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.

Inheritance

Autosomal recessive inheritance, a 25% chance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Signs and symptoms

The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure. Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention. Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Recurrent urinary tract infections(Frequent urinary tract infections)

30%-79% of people have these symptoms

• Constipation
• Cryptorchidism(Undescended testes)
• Hydronephrosis
• Urethral obstruction
• Urinary incontinence(Loss of bladder control)
• Vesicoureteral reflux

5%-29% of people have these symptoms

• Bowel incontinence(Loss of bowel control)
• Hypertension
• Polydipsia(Extreme thirst)
• Renal insufficiency(Renal failure)

Diagnosis

Ochoa syndrome is diagnosed based on a medical exam, the symptoms, and imaging studies of the bladder and kidney. Genetic testing can help, but may not be necessary.

Treatment

Treatment for Ochoa syndrome is based on managing the symptoms. Medications can help with bladder control and antibiotics can help with the frequent infections. In some cases, surgery may be needed to correct urinary tract obstruction and to reconstruct certain portions of the urinary tract. The use of intermittent urinary catheters may also be needed.

NIH genetic and rare disease info

• NIH info on Ochoa syndrome

Ochoa syndrome is a rare disease.

Ochoa syndrome Resources
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