What is Meckel Syndrome?
Meckel syndrome is an inherited disorder that affects many parts of the body. This syndrome is characterized by three main traits: fluid-filled pouches in the kidneys called cysts, extra fingers and toes (polydactlyly), and an opening in the skull bone where a sac filled with fluid protrudes out called an occipital encephalocele. Most people with Meckel syndrome also have scars called fibrosis in the liver. There are many other symptoms that may be present, including problems with the spine, genitalia, eyes, face, heart, head, bones, and other organs of the body that create urine. Children with Meckel syndrome usually pass away either before birth or shortly after birth due to the severity of the symptoms. The diagnosis of Meckel syndrome can be made by many different doctors. People can talk to a doctor who specializes in inherited diseases called a medical geneticist to learn more about Meckel syndrome. A medical geneticist can be found by going to the American College of Medical Genetics "Find a Member" website. Meckel syndrome is named after Johann Meckel and Georg Gruber.
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Are there other names for Meckel Syndrome?
Meckel Syndrome can also be called Dysencephalia Splanchnocystica, Gruber syndrome, and Meckel-Gruber syndrome. People can talk with their doctor or a medical geneticist to find out what name they are using to describe the syndrome. A medical geneticist can be found by again going to the American College of Medical Genetics "Find a Member" website.
What is the usual abbreviation for Meckel Syndrome?
Meckel syndrome can be shortened to MES or MKS. These abbreviations can be used to describe many things. People should make sure that the abbreviation is defined when reading about Meckel syndrome.