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.
Hans Waterham is in Amsterdam, Netherlands. Waterham is rated as a Distinguished expert by MediFind in the treatment of Greenberg Dysplasia. He is also highly rated in 35 other conditions, according to our data. His top areas of expertise are Adrenoleukodystrophy, Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, and X-Linked Chondrodysplasia Punctata 2.
Andrea Furga-Superti is in Lausanne, Switzerland. Furga-Superti is rated as a Distinguished expert by MediFind in the treatment of Greenberg Dysplasia. She is also highly rated in 59 other conditions, according to our data. Her top areas of expertise are Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, Spondyloepiphyseal Dysplasia, and Multiple Epiphyseal Dysplasia.
Mark Heinrich is an Emergency Medicine specialist and a General Practice doctor in Oroville, California. Dr. Heinrich has been practicing medicine for over 36 years and is rated as an Advanced doctor by MediFind in the treatment of Greenberg Dysplasia. He is also highly rated in 184 other conditions, according to our data. His top areas of expertise are Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Tracheitis. He is licensed to treat patients in California.
Published Date:updated Last, February
Published By: National Institutes of Health
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