Donnai-Barrow SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Donnai-Barrow Syndrome
Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.
Mutations in the LRP2 gene cause Donnai-Barrow syndrome. The LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. Megalin has many ligands involved in various body processes, including the absorption of vitamins A and D, immune functioning, stress response, and the transport of fats in the bloodstream.
Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a rare disorder. A few dozen affected individuals have been reported in many regions of the world.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In almost all cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.
Rikke Nielsen practices practicing medicine in Arhus, Denmark. Ms. Nielsen is rated as an Elite expert by MediFind in the treatment of Donnai-Barrow Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Donnai-Barrow Syndrome, Fabry Disease, Nephrotic Syndrome, and Corpus Callosum Agenesis.
Fetal Treatment Center
Lan Vu is a General Surgeon practicing medicine in San Francisco, California. Dr. Vu is rated as an Advanced provider by MediFind in the treatment of Donnai-Barrow Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Donnai-Barrow Syndrome, Fryns Syndrome, Cystic Adenomatoid Malformation of Lung, and Total Intestinal Aganglionosis. Dr. Vu is board certified in American Board Of Surgery, Pediatric Surgery and American Board Of Surgery, General Surgery. Dr. Vu is currently accepting new patients.
Northwell Health Physician Partners At Downtown Flushing
Paul Lee is a Thoracic Surgeon practicing medicine in Flushing, New York. Dr. Lee is rated as an Advanced provider by MediFind in the treatment of Donnai-Barrow Syndrome. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Pleuropulmonary Blastoma, Squamous Cell Lung Carcinoma, Lung Adenocarcinoma, Thymectomy, and Advanced Bronchoscopy. Dr. Lee is board certified in American Board Of Thoracic Surgery and American Board Of Surgery. Dr. Lee is currently accepting new patients.
Published Date: April 01, 2013
Published By: National Institutes of Health