Learn About Greenberg Dysplasia
Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.
Mutations in the LBR gene cause Greenberg dysplasia. This gene provides instructions for making a protein called the lamin B receptor. One region of this protein, called the sterol reductase domain, plays an important role in the production (synthesis) of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals: eggs, meat, fish, and dairy products. Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows the protein to perform one of several steps that convert a molecule called lanosterol to cholesterol.
Greenberg dysplasia is a very rare condition. Approximately ten cases have been reported in the scientific 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.
Summit Orthopedics
Tracy Rupke, M.D., is an orthopedic surgeon at Summit Orthopedics specializing in foot and ankle care, serving Minneapolis/St. Paul metro area patients. She has a special interest in sports medicine, orthopedic trauma, and reconstructive surgery of the foot and ankle. She did a sports medicine fellowship at the University of Ottawa in Canada, and a foot and ankle surgery fellowship at the University of Washington, Seattle. “I am dedicated to providing the best care possible for my patients,” she says. “I love running and understand every patient’s desire to return to their own life and activities.” She provides medical coverage for the U.S. Waterski team and volunteered surgical skills to underserved communities through One World Surgery. Dr. Rupke is rated as an Experienced provider by MediFind in the treatment of Greenberg Dysplasia. Her top areas of expertise are Synovial Osteochondromatosis, Achilles Tendon Rupture, Osgood-Schlatter Disease, Osteochondritis Dissecans, and Hip Replacement.
Loyola University Medical Center
Felicity Fishman is a Hand Surgeon in Maywood, Illinois. Dr. Fishman is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. Her top areas of expertise are Syndactyly Type 2, Syndactyly, Syndactyly Type 1, and Proximal Symphalangism. Dr. Fishman is currently accepting new patients.
Mark Miller is a Pediatric Orthopedics specialist and an Orthopedics provider in Saint Louis, Missouri. Dr. Miller is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Claw Foot, Clubfoot, Congenital Femoral Deficiency, Osteotomy, and Tissue Biopsy. Dr. Miller is currently accepting new patients.
Published Date: February 01, 2012
Published By: National Institutes of Health