What causes Sotos syndrome?
Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life.
Is Sotos syndrome autism?
People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. Frequent behavioral issues include autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors.
Can Sotos syndrome be detected before birth?
However, brain abnormalities in Sotos syndrome are nonspecific (Tatton-Brown et al., 2005) and many fetuses with Sotos syndrome will not be large for gestational age at the time of level II sonographic examination (16–20 weeks), making it very difficult to diagnose this condition prenatally.
Can people with Sotos syndrome have kids?
While less likely to occur, children can inherit the condition if one parent carries the mutated gene and passes it to their child (autosomal dominant); if a parent has Sotos syndrome, any child born to them will have a 50% chance of inheriting it.
Is Sotos syndrome a learning disability?
Disease at a Glance
Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development.
Sotos Syndrome - A Journey From Diagnosis Through Life
Can people with Sotos syndrome live a normal life?
Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life.
Is Sotos syndrome neurological?
Sotos syndrome is a genetic disorder, described in 1964, characterized by excessive growth before and after birth, a large, elongated (dolichocephalic) head, distinctive facial configuration, and a non-progressive neurological disorder with intellectual disability.
What is reverse Sotos syndrome?
Sotos syndrome is a disorder of childhood overgrowth caused by NSD1 deletions. Duplications involving NSD1 cause a 'reverse Sotos syndrome' phenotype characterised by short stature and microcephaly. The contrasting phenotypes of NSD1 deletions and duplications suggest a dose effect.
What are Soto seizures?
The seizure phenotype in Sotos syndrome most commonly involves staring spells, afebrile tonic‐clonic seizures or febrile convulsions; however, other seizure types may occur. Seizures are typically well‐controlled with medication, but drug‐resistant epilepsy occurs in a minority.
Who discovered Sotos syndrome?
Sotos syndrome was first described in 1964 by Juan Sotos and the major diagnostic criteria of a distinctive facial appearance, childhood overgrowth and learning disability were established in 1994 by Cole and Hughes. In 2002, cloning of the breakpoints of a de novo t(5;8)(q35;q24.
What causes fetal overgrowth?
Fetal macrosomia is more likely to be a result of maternal diabetes, obesity or weight gain during pregnancy than other causes. If these risk factors aren't present and fetal macrosomia is suspected, it's possible that your baby might have a rare medical condition that affects fetal growth.
Can a person with Down syndrome be tall?
Body: Babies with DS usually start out at average weight and length. As they grow individuals with DS often fall behind their typical peers. Adult males have an average height of 5 feet 2 inches and women reach about 41/2 feet.
Can you test for muscular dystrophy before birth?
Genetic testing can also be used for prenatal diagnosis. This is when a baby is diagnosed with MD before birth using tests carried out during pregnancy. You may be offered these tests if you're pregnant and there's a possibility that your unborn baby has MD.
What is glass syndrome?
Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features.
Is Rett syndrome hereditary?
Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are spontaneous, which means the mutation occurs randomly.
What is Benjamin Button syndrome?
The body begins to age rapidly in progeria, meaning a child starts looking old within 1-2 years after birth. Caused by a genetic mutation in the LMNA gene, children with the condition rarely live past 13 years of age. Around 1 in every 4 million babies are born with progeria disease.
Do small seizures cause brain damage?
Prolonged seizures are clearly capable of injuring the brain. Isolated, brief seizures are likely to cause negative changes in brain function and possibly loss of specific brain cells.
Can stress and anxiety cause seizures?
Emotional stress also can lead to seizures. Emotional stress is usually related to a situation or event that has personal meaning to you. It may be a situation in which you feel a loss of control. In particular, the kind of emotional stress that leads to most seizures is worry or fear.
What causes mini seizures in the brain?
Seizures can happen after a stroke, a closed head injury, an infection such as meningitis or another illness. Many times, though, the cause of a seizure is unknown. Most seizure disorders can be controlled with medication, but management of seizures can still have a significant impact on your daily life.
What is Dowdown syndrome?
What is Down Syndrome? Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby's body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes.
Which term is used to describe the condition of widely spaced eyes?
Hypertelorism is a term used to describe an abnormally large distance between the eyes. It refers to the position of the bony orbits, the 'eye sockets,' in which the eyes lie, in the skull.
How long do people with Werner syndrome live?
The mean survival for patients with Werner syndrome (WS) is 46 years. Death usually occurs when patients are aged 30-50 years because of atherosclerosis or malignant tumors. Adroit medical management may enhance life expectancy; one patient was described who survived until dying of acute heart failure at age 68 years.
How long do people with Prader Willis live?
People diagnosed with Prader-Willi syndrome (PWS) usually live well into adulthood. The most common causes of mortality are obesity-related cor pulmonale and respiratory failure.
Which parent is responsible for muscular dystrophy?
The gene mutations may have been present on both sides of the family for many generations but may not have affected anyone until a child inherited a copy of the altered gene from both parents.
What are 3 signs of muscular dystrophy?
Signs and symptoms, which typically appear in early childhood, might include:
- Frequent falls.
- Difficulty rising from a lying or sitting position.
- Trouble running and jumping.
- Waddling gait.
- Walking on the toes.
- Large calf muscles.
- Muscle pain and stiffness.
- Learning disabilities.