Urofacial Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Urofacial Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Urofacial syndrome (UFS), also known as hydronephrosis with peculiar facial expression, is an extremely rare inherited disorder characterized by an unusual facial expression and disorder of the urinary tract (uropathy) when the bladder tries to empty the outlet closes meaning that the urine goes back towards the kidneys rather than out of the body. This problem can be present at birth (congenital). When affected infants smile, their facial musculature turns upside down or "inverts" so that they appear to be grimacing or crying. The urinary abnormality is due to a failure of nerve signals between the bladder and the spinal cord results in incomplete emptying of the bladder (neurogenic or neuropathic bladder). In addition, neurogenic bladder may result in involuntary discharge of urine (enuresis), urinary tract infections, and/or abnormal accumulation of urine in the kidneys (hydronephrosis). Additional abnormalities may include inflammation of the kidneys and pelvis (pyelonephritis), backflow of urine into the tubes that carry urine from the kidney to the bladder (vesicoureteral reflex), and/or involuntary spasms of the ring of muscle around the anus (external sphincter). Intellect is not affected. Prompt diagnosis and treatment can reduce or potentially prevent severe, irreversible bladder and kidney damage. Urofacial syndrome can occur due to disruption or changes (mutations) of the HPSE2 gene or the LRIG2 gene and is inherited in an autosomal recessive manner.

Urofacial syndrome was first described in 1960s by Dr. Bernardo Ochoa, a urological surgeon and researcher from Colombia, South America. The disorder is also known as Ochoa syndrome and was originally believed to be a local disorder, unique to the region were it was first identified. Urofacial syndrome has since been identified in countries and ethnic groups worldwide.

Supporting Organizations

American Association of Kidney Patients

2701 North Rocky Point Drive, Suite 150
Tampa, FL 33607
Tel: (813)636-8100
Fax: (813)636-8122
Tel: (800)749-2257
Email: info@aakp.org
Website: http://www.aakp.org

American Kidney Fund, Inc.

11921 Rockville Pike
Suite 300
Rockville, MD 20852
Tel: (800)638-8299
Email: helpline@kidneyfund.org
Website: http://www.kidneyfund.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Kidney and Urologic Diseases Information Clearinghouse

3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
Email: nkudic@info.niddk.nih.gov
Website: http://www.kidney.niddk.nih.gov/

National Kidney Foundation

30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Website: http://www.kidney.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  6/11/2015
Copyright  2015 National Organization for Rare Disorders, Inc.