About Sotos Syndrome
New York Center for Rare Diseases apoya la misión y las pautas del Centro de Información sobre Enfermedades Raras y Genéticas (GARD, por sus siglas en inglés). La siguiente información ha sido proporcionada por los NIH.
Resumen
Sotos syndrome is an inherited neurological disorder. It causes excessive growth from before birth through childhood. Symptoms include advanced bone age and a distinct facial appearance. This is paired with a large head, prominent features, and a pointed chin. Some individuals may also have differences in brain development. Sotos syndrome can cause seizures, and challenges with intellectual development. Sotos syndrome is caused by changes in the NSD1 gene. It follows an autosomal dominant pattern of inheritance. This means that a single copy of the mutated gene is sufficient to cause the disorder.
Causas
¿Qué causa esta enfermedad?
Genetic Mutations: Sotos syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
Si sospecha que puede tener esta enfermedad, se recomienda que empiece a recopilar el historial de salud de su familia. Debe comentar con su equipo médico cualquier información sobre otros familiares que hayan tenido síntomas similares, cuándo aparecieron por primera vez dichos síntomas (en usted o en sus parientes) o la exposición a factores ambientales que pudieran, potencialmente, causar la enfermedad.
Chromosomal Changes: Sotos syndrome is caused by a change in the number of chromosomes a person has, or a change in their structure. Chromosomes are structures within cells that hold all our genes. People usually have 46 chromosomes, 23 come from the biological mother and 23 come from the biological father. Most of the time, chromosomal changes occur randomly in the sperm or egg, but some changes are known to be passed on from parent to child.
Dados los cambios cromosómicos conocidos de esta enfermedad, se recomienda que pregunte a su equipo de atención médica si las pruebas cromosómicas son adecuadas para usted. Los resultados de las pruebas cromosómicas pueden confirmar o descartar una posible enfermedad cromosómica, o determinar la probabilidad de que una persona transmita una enfermedad.