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Ochoa Syndrome
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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.

Credit to - www.rarediseases.org


Here are some charities/organizations relating to Ochoa Syndrome, please donate if you can:

American Association of Kidney Patients
3505 East Frontage Road
Tampa, FL 33607

Phone #: 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: 800-638-8299
E-mail: helpline@kindeyfund.org
Home page:
http://www.kidneyfund.org

NIH/National Kidney and Urologic Diseases Information Clearinghouse
9000 Rockville Pike
Bethesda, MD 20852

Phone #: 800-891-5390
Home page:
http://www.niddk.nih.gov



I could not find any pictures or websites that showed or described Ochoa Syndrome any differently then the article above. 


Never forget there is hope.