View Main Condition: RASopathies
Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and short stature. These features vary, however, even among affected individuals in the same family. Not all individuals with Noonan syndrome with multiple lentigines have all the characteristic features of this condition.
Variants (also known as mutations) in one of several genes can cause Noonan syndrome with multiple lentigines. Approximately 85 percent of individuals with this condition have mutations in the PTPN11 gene. Another 10 percent have mutations in the RAF1 gene. In rare cases, mutations in the BRAF or MAP2K1 gene have been found to cause this condition. The remaining individuals with Noonan syndrome with multiple lentigines do not have an identified mutation in any of these four genes. In these individuals, the cause of the condition is unknown.
Noonan syndrome with multiple lentigines is thought to be a rare condition; approximately 200 cases have been reported worldwide.
Noonan syndrome with multiple lentigines is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. Some affected people inherit the variation from one affected parent. Other cases result from new variants in the gene and occur in people with no history of the condition in their family.
Martin Zenker practices in Magdeburg, Germany. Zenker is rated as an Elite expert by MediFind in the treatment of Cardiomyopathic Lentiginosis. He is also highly rated in 77 other conditions, according to our data. His top areas of expertise are Rommen Mueller Sybert Syndrome, Noonan Syndrome, RASopathies, Syndactyly, and Kidney Transplant.
Marco Tartaglia is an Internal Medicine expert in Bloomfield, New Jersey. Tartaglia has been practicing medicine for over 44 years and is rated as an Elite expert by MediFind in the treatment of Cardiomyopathic Lentiginosis. He is also highly rated in 55 other conditions, according to our data. His top areas of expertise are Noonan Syndrome, RASopathies, Rommen Mueller Sybert Syndrome, and Short Stature (Growth Disorders). He is licensed to treat patients in New Jersey.
Bruce Gelb is a Pediatrics specialist and a Pediatric Cardiologist in New York, New York. Gelb has been practicing medicine for over 39 years and is rated as an Elite expert by MediFind in the treatment of Cardiomyopathic Lentiginosis. He is also highly rated in 18 other conditions, according to our data. His top areas of expertise are RASopathies, Noonan Syndrome, Congenital Heart Disease (CHD), Cardiomyopathic Lentiginosis, and Heart Transplant. He is licensed to treat patients in New York. Gelb is currently accepting new patients.
Summary: The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function of this pathway is critical to normal development. Each syn...
Published Date: February 22, 2022Published By: National Institutes of Health