How do you test for Proteus syndrome?
Diagnosing Proteus syndrome The first step a doctor may take is to biopsy a tumor or tissue, and test the sample for the presence of a mutated AKT1 gene. If one is found, screening tests, such as X-rays, ultrasounds, and CT scans, may be used to look for internal masses.
What is the Proteus syndrome?
Proteus syndrome is a rare disorder characterized by overgrowth of various tissues of the body. The cause of the disorder is a mosaic variant in a gene called AKT1. Disproportionate, asymmetric overgrowth occurs in a mosaic pattern (i.e., a random “patchy” pattern of affected and unaffected areas).
Is Proteus Syndrome progressive?
Clinical characteristics. Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems.
What is Malan syndrome?
Malan syndrome (MIM# 614753; also called as Sotos syndrome 2) is an overgrowth disorder, characterized by overgrowth, an unusual facial phenotype, intellectual disability, and behavioral problems.
Who usually gets Proteus syndrome?
Classically, males have been thought to be more commonly affected than females, but new studies with genetically confirmed cases have not yet been published. The genetic mutation that causes Proteus Syndrome is a somatic mutation that occurs after conception and is propagated in one or more subsets of embryonic cells.
What is the life expectancy of a person with Proteus syndrome?
Life expectancy is 9 months to 29 years, according to the severity of the abnormalities. The fourth leading cause of premature death is pulmonary thromboembolism and respiratory failure, which are predisposed by vascular malformations, surgical convalescence, and (in extreme cases of deformity) by restricted mobility.
What is the life expectancy of someone with Proteus syndrome?
Life expectancy is 9 months to 29 years, according to “Radiologic manifestations of Proteus syndrome” published in the Radiological Society of North America journal RadioGraphics.
What causes Soto syndrome?
Sotos syndrome is caused by mutations (abnormalities) in the NSD1 (nuclear receptor-binding SET domain protein 1) gene. Mutations in this gene have been identified in approximately 90% of affected patients (Sotos syndrome 1).
Where can I find information about Proteus syndrome?
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. The Proteus Syndrome Foundation Web site provides information on this syndrome.
When was the first National Conference on Proteus syndrome?
The major problems requiring resolution in Proteus syndrome include frequent misdiagnosis, lack of diagnostic criteria, and lack of longitudinal data on natural history. The First National Conference on Proteus Syndrome for Parents and Families was held at the National Institutes of Health in Bethesda, Maryland from March 18 to March 20, 1998.
What does sporadic occurrence in Proteus syndrome mean?
Sporadic occurrence: This means that no one else in the affected person’s family has similar features of overgrowth. Progressive course: This means that the overgrowth has noticeably altered the appearance of the affected body parts over time or that new areas of overgrowth have appeared over time.
Is the AKT1 mutation in Proteus syndrome inherited?
It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected.