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.
Partners In Pelvic Health North Shore Urogynecology
Sanjay Gandhi is an Obstetrics and Gynecologist and an Urologist in Lake Forest, IL. Dr. Gandhi and is rated as a Distinguished provider by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Uterine Prolapse, Ochoa Syndrome, Rectocele, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR).
Adrian Woolf practices in Manchester, United Kingdom. Woolf and is rated as an Elite expert by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Ochoa Syndrome, Prune Belly Syndrome, Fraser Syndrome, Exstrophy of the Bladder, and Reconstructive Urology Surgery.
Neil Roberts practices in Manchester, United Kingdom. Roberts and is rated as an Elite expert by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Ochoa Syndrome, Zellweger Syndrome, Neurogenic Bladder, and Bladder Outlet Obstruction.
Published Date: March 01, 2012
Published By: National Institutes of Health