Ochoa SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Ochoa Syndrome
Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.
Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood.
Ochoa syndrome is a rare disorder. About 150 cases have been reported in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Phoenixville Hospital
. Dr. Maceda is rated as a Distinguished provider by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Uterine Prolapse, Stress Urinary Incontinence, Urinary Incontinence, and Ochoa Syndrome.
Advocate Medical Group Urology
James Griffin is a Urologist in Elgin, Illinois. Dr. Griffin is rated as an Advanced provider by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Perirenal Abscess, Boils, Urinary Tract Infection in Children, Ureteroscopy, and Prostatectomy.
Atrium Health Levine Children's Urology
Jonathan Walker is a Pediatrics provider in Charlotte, North Carolina. Dr. Walker is rated as an Advanced provider by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Hypospadias, Meatal Stenosis, Renal Tubular Dysgenesis, and Ochoa Syndrome. Dr. Walker is currently accepting new patients.
Published Date: March 01, 2012
Published By: National Institutes of Health