National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ochoa syndrome


Other Names:
Hydronephrosis with peculiar facial expression; Urofacial syndrome; Inverted smile and occult neuropathic bladder; Hydronephrosis with peculiar facial expression; Urofacial syndrome; Inverted smile and occult neuropathic bladder; Partial facial palsy with urinary abnormalities; Urofacial Ochoa's syndrome; UFS See More
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Ochoa syndrome is a very rare condition that causes unusual facial expressions and problems with urination.[1] 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.[1][2] Ochoa syndrome can be caused by a non-working HPSE2 or LRIG2 gene and is inherited in an autosomal recessive manner.[3][4] It can be diagnosed based on the symptoms. Treatment may involve surgery, antibiotics and medications to decrease bladder hyperactivity.[2]
Last updated: 5/22/2020
The following list includes the most common signs and symptoms in people with Ochoa syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:
  • Bladder that does not work correctly
  • Abnormal facial expression
  • Constipation
  • Incomplete closure of the eyes at night
Facial features may be present in infancy. The urinary tract symptoms may start in childhood or early adolescence. These may include incomplete emptying of the bladder, frequent bladder infections, and the inability to control the bladder. Urine can back up into the kidneys. In some people, these symptoms lead to eventual kidney failure.[2][4][5]
Last updated: 5/22/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] 		0000010
30%-79% of people have these symptoms
Constipation 0002019
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Hydronephrosis 0000126
Urethral obstruction 0000796
Urinary incontinence
Loss of bladder control
0000020
Vesicoureteral reflux 0000076
5%-29% of people have these symptoms
Bowel incontinence
Loss of bowel control
0002607
Hypertension 0000822
Polydipsia
Extreme thirst
0001959
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Percent of people who have these symptoms is not available through HPO
Abnormal facial expression 0005346
Abnormal facial shape
Unusual facial appearance
0001999
Autosomal recessive inheritance 0000007
Enuresis 0000805
Hydroureter 0000072
Urethral valve 0010481
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Last updated: 7/1/2020
Ochoa syndrome may be caused by a HPSE2 or a LRIG2 gene that is not working correctly. Genetic changes known as DNA variants can impact how genes work. Pathogenic variants are responsible for making genes work incorrectly. Some people with Ochoa syndrome have not been found to have pathogenic variants in either gene. In these individuals, the cause of the disorder is unknown.[3][4]
Last updated: 5/22/2020
Ochoa syndrome is inherited in an autosomal recessive pattern.[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
 
People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers.  Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition. 

Last updated: 5/22/2020
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.[1][2]
Last updated: 5/22/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.[1][2]

Specialists who may be involved in the care of someone with Ochoa syndrome include:
  • Urologist
  • Nephrologist
  • Ophthalmologist
  • Surgeon
  • Dietitian
Last updated: 5/22/2020
It is unknown how many people have Ochoa syndrome. The information about this condition is based on case reports in the literature.[1]
Last updated: 5/22/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Ochoa syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ochoa syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Newman WG, Woolf AS. Urofacial syndrome. GeneReviews. Updated 2018; https://www.ncbi.nlm.nih.gov/books/NBK154138/.
  2. Tu Y, Yang P, Yang J, Xu Y Xiong F, Yu Q, Gu W, Pond D, Mendelsohn N, Lachmeijer GA, Zhang S, Wang CY. Clinical and genetic characteristics for the Urofacial Syndrome (UFS).. Int J Clin Exp Pathol.. Apr 15, 2014; 7(5):1842-1848. https://www.ncbi.nlm.nih.gov/pubmed/24966895.
  3. Daly S, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, et al. Mutations in HPSE2 cause urofacial syndrome [published correction appears in Am J Hum Genet. 2010 Aug 13;87(2):309]. Am J Hum Genet. 2010; 86(6):963-969. https://pubmed.ncbi.nlm.nih.gov/20560210.
  4. Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE et al. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet. 2013; 92(2):259-264. https://pubmed.ncbi.nlm.nih.gov/23313374.
  5. Woolf AS, Stuart HM, Roberts NA, McKenzie EA, Hilton EN, Newman WG. Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. Pediatr Nephrol. 2014; 29(4):513-518. https://pubmed.ncbi.nlm.nih.gov/23832138.
  6. Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ et al. Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder. Kidney Int. 2019; 95(5):1138-1152. https://pubmed.ncbi.nlm.nih.gov/30885509.