Opitz G BBB SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Opitz G BBB Syndrome
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.
X-linked Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a protein called midline-1. This protein attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the movement of cells (cell migration). Midline-1 assists in recycling certain proteins that need to be reused instead of broken down. MID1 gene mutations lead to a decrease in midline-1 function, which prevents protein recycling. The resulting accumulation of proteins impairs microtubule function, leading to problems with cell division and migration. It is unclear how these changes disrupt normal development and cause the signs and symptoms of Opitz G/BBB syndrome.
X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 males, although it is likely that this condition is underdiagnosed.
When caused by mutations in the MID1 gene, Opitz G/BBB syndrome has an X-linked pattern of inheritance. It is considered X-linked because the MID1 gene is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no symptoms at all. Because it is unlikely that females will have two altered copies of the MID1 gene, females with X-linked Opitz G/BBB syndrome typically have hypertelorism as the only sign of the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Robert Steiner is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Madison, Wisconsin. Dr. Steiner is rated as an Elite provider by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, Osteogenesis Imperfecta, and Maternal Hyperphenylalaninemia. Dr. Steiner is currently accepting new patients.
Medical Oncology Hematology Consultants
Jamil Khatri is a Hematologist Oncology specialist and an Oncologist practicing medicine in Middletown, Delaware. Dr. Khatri is rated as a Distinguished provider by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 69 other conditions, according to our data. His clinical expertise encompasses Lung Cancer, Pleuropulmonary Blastoma, Familial Colorectal Cancer, Non-Hodgkin Lymphoma, and Bone Marrow Aspiration.
Northwell Health Center For Advanced Medicine, RJ Zuckerberg Cancer Center
Steven L. Allen, MD, FACP, is Professor of Medicine at the Donald and Barbara Zucker School of Medicine at Hofstra/Northwell. An expert in benign and malignant hematology, he is the System Head for Benign Hematology for the Northwell Health Cancer Institute. As an attending physician at the Monter Cancer Center, Dr. Allen focuses on providing compassionate, personalized, evidence-based multi-disciplinary care. Board certified in Internal Medicine, Hematology and Medical Oncology, Dr. Allen has been the principal investigator for numerous drug trials and has collaborated with several basic science labs, resulting in over 150 publications. Among his many professional affiliations, he is most active with the American Society of Hematology, having served in numerous leadership positions and committees. In addition, he is a dedicated member of the American Society of Clinical Oncology, Empire State Hematology and Oncology Society, and the American College of Physicians. Dr. Allen earned his medical degree from the Johns Hopkins School of Medicine. He trained in internal medicine and hematology/oncology at New York Hospital-Weill Cornell Medical Center. Dr. Allen is rated as an Advanced provider by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Non-Hodgkin Lymphoma, Schnitzler Syndrome, Monoclonal Gammopathy of Undetermined Significance (MGUS), Follicular Lymphoma, and Bone Marrow Aspiration. Dr. Allen is board certified in American Board Of Internal Medicine, American Board Of Internal Medicine/Hematology, and American Board Of Internal Medicine/Medical Oncology.
Published Date: January 01, 2015
Published By: National Institutes of Health