Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ochoa Syndrome


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

Disorder Subdivisions



    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.
    .

    Organizations related to Ochoa Syndrome
    • American Association of Kidney Patients
      3505 East Frontage Road
      Tampa FL 33607
      Phone #: 813-636-8100
      800 #: 800-749-2257
      e-mail: info@aakp.org
      Home page: http://www.aakp.org
    • American Kidney Fund, Inc.
      6110 Executive Boulevard
      Rockville MD 20852
      Phone #: 301-881-3052
      800 #: 800-638-8299
      e-mail: helpline@kideyfund.org
      Home page: http://www.kidneyfund.org
    • NIH/National Kidney and Urologic Diseases Information Clearinghouse
      3 Information Way
      Bethesda MD 20892-3580
      Phone #: N/A
      800 #: 800-891-5390
      e-mail: nkudic@info.niddk.nih.gov
      Home page: http://kidney.niddk.nih.gov/
    • National Kidney Foundation
      30 East 33rd Street
      New York NY 10016
      Phone #: 212-889-2210
      800 #: 800-622-9010
      e-mail: info@kidney.org
      Home page: http://www.kidney.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html