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    Ochoa Syndrome

    Important
    It is possible that the main title of the report Ochoa Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Hydronephrosis With Peculiar Facial Expression
    • Urofacial Syndrome
    • Inverted Smile And Occult Neuropathic Bladder
    • Partial Facial Palsy With Urinary Abnormalities

    Disorder Subdivisions

    • None

    General Discussion

    Ochoa (urofacial) syndrome, also known as hydronephrosis with peculiar facial expression, is an extremely rare inherited disorder characterized by an abnormal facial expression and obstructive disease of the urinary tract (uropathy) that are 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 an obstructive uropathy in which 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). In some cases, affected individuals may develop renal failure during adolescence or the early 20s, potentially leading to life-threatening complications.

    Ochoa syndrome occurs due to disruption or changes (mutations) of a gene on the long arm (q) of chromosome 10 (10q23-q24). Ochoa syndrome has been identified as an autosomal recessive trait.

    Resources

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

    American Kidney Fund, Inc.
    11921 Rockville Pike
    Suite 300
    Rockville, MD 20852
    USA
    Tel: (800)638-8299
    Email: helpline@kidneyfund.org
    Internet: http://www.kidneyfund.org

    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
    Internet: http://www.kidney.org

    NIH/National Kidney and Urologic Diseases Information Clearinghouse
    3 Information Way
    Bethesda, MD 20892-3580
    Fax: (703)738-4929
    Tel: (800)891-5390
    TDD: (866)569-1162
    Email: nkudic@info.niddk.nih.gov
    Internet: http://www.kidney.niddk.nih.gov/

    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
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    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.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 5/21/2008
    Copyright 1997, 1998, 2002 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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