Wiedemann-Rautenstrauch syndrome is a type of progeria, which is a group of genetic conditions characterized by the dramatic, rapid appearance of aging earlier in life than expected. Signs and symptoms of Wiedemann-Rautenstrauch syndrome begin before birth. Affected individuals do not grow and gain weight at the expected rate before and after birth. People with this condition have distinctive facial features that give the appearance of old age. They often have a large head, a triangular face with a prominent forehead and pointed chin, a small mouth with a thin upper lip, low-set ears, and abnormal lower eyelids. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). On the head, hair is sparse and the veins stand out. Also contributing to the appearance of aging is a lack of fatty tissue under the skin (lipodystrophy), particularly in the face, arms, and legs. In addition, the skin is thin and translucent. Some affected individuals develop joint abnormalities called contractures that can limit movement.
Wiedemann-Rautenstrauch syndrome is caused by mutations in a gene called POLR3A. This gene provides instructions for making the largest piece (subunit) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. RNA polymerase III helps synthesize several forms of RNA, including those that assemble protein building blocks (amino acids) into working proteins. This process is essential for the normal functioning and survival of cells in tissues throughout the body.
Wiedemann-Rautenstrauch syndrome is a rare disorder. Its prevalence is unknown.
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.
Joann Pinkerton is an Obstetrics and Gynecologist in Charlottesville, Virginia. Dr. Pinkerton has been practicing medicine for over 41 years and is rated as a Distinguished doctor by MediFind in the treatment of Wiedemann-Rautenstrauch Syndrome. She is also highly rated in 34 other conditions, according to our data. Her top areas of expertise are Melorheostosis, Osteopenia, Melorheostosis with Osteopoikilosis, and Pelvic Inflammatory Disease. She is licensed to treat patients in Virginia. Dr. Pinkerton is currently accepting new patients.
Gonzalo Arboleda is in Bogota, Colombia. Arboleda is rated as a Distinguished expert by MediFind in the treatment of Wiedemann-Rautenstrauch Syndrome. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Wiedemann-Rautenstrauch Syndrome, Progeria, Parkinson's Disease, and Pol 3-Related Leukodystrophy.
Humberto Arboleda is in Bogota, Colombia. Arboleda is rated as a Distinguished expert by MediFind in the treatment of Wiedemann-Rautenstrauch Syndrome. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Wiedemann-Rautenstrauch Syndrome, Progeria, Alzheimer's Disease, and Dementia.
Published Date: March 01, 2019Published By: National Institutes of Health
There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.