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
Jose Maceda is a General Surgeon and an Obstetrics and Gynecologist practicing medicine in Phoenixville, Pennsylvania. Dr. Maceda is rated as a Distinguished provider by MediFind in the treatment of Ochoa Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Uterine Prolapse, Stress Urinary Incontinence, Urinary Incontinence, and Ochoa Syndrome. Dr. Maceda is board certified in American Board Of Obstetrics And Gynecology.
Advocate Medical Group Urology
James Griffin is a Urologist practicing medicine in Elgin, Illinois. Dr. Griffin is rated as an Advanced provider by MediFind in the treatment of Ochoa Syndrome. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Perirenal Abscess, Boils, Urinary Tract Infection in Children, Ureteroscopy, and Prostatectomy. Dr. Griffin is board certified in American Board Of Urology.
Atrium Health Levine Children's Urology
Jonathan Walker is a Pediatrics provider practicing medicine in Charlotte, North Carolina. Dr. Walker is rated as an Advanced provider by MediFind in the treatment of Ochoa Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Hypospadias, Meatal Stenosis, Renal Tubular Dysgenesis, and Ochoa Syndrome. Dr. Walker is board certified in American Board Of Urology. Dr. Walker is currently accepting new patients.
Published Date: March 01, 2012
Published By: National Institutes of Health