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Doctor insights on: Causes Of Roberts Syndrome

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What're the symptoms and causes of stevens-johnson syndrome?

What're the symptoms and causes of stevens-johnson syndrome?

Severe rash from med: Severe skin rash often from drug allergy, esp sulfa drugs, but also can be from connective tissue diseases. ...Read more

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What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more

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What is the basic cause of klinefelter syndrome?

What is the basic cause of klinefelter syndrome?

Extra X chromosome: The phenotypic male, with a y chromosome, has more than on x chromosome, associated with poor testicular development, infertility and obesity. ...Read more

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What is the cause of edward's syndrome?

What is the cause of edward's syndrome?

Defective transfer: When eggs/sperm form they go through a process where the pairs of chromosomes split.Each resulting egg or sperm should only have one of the pair. When /if an egg or sperm fails to drop one or part of the chromosome 18, it will have excessive material once conception occurs.That extra material interferes with normal development. ...Read more

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What's the incidence of edward syndrome?

What's the incidence of edward syndrome?

One in 6,000: Edwards syndrome occurs in around one in 6, 000 live births and around 80 percent of those affected are female. The majority of fetuses with the syndrome die before birth. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders. ...Read more

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What causes of fragile x syndrome?

What causes of fragile x syndrome?

Gene mutation: Fragile x syndrome is due to a mutation within the fmr1 gene on x chromosome. Part of the gene gets repeated too many times. It is the most common genetic cause of intellectual disability. Please see: http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0002633/ and http://www.Fragilex.Org/ for more information. ...Read more

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What type of mutation causes alagille syndrome?

What type of mutation causes alagille syndrome?

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs. ...Read more

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What causes patau syndrome?

What causes patau syndrome?

Extra chromosome 13: Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. Symptoms include polydactyly, holoprosencephaly, coloboma of the iris, scalp defect, clenched, overlapping fingers, many midline defects, severe mental retardation, short life spans(<1yr avg) ...Read more

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What causes patau syndrome?

What causes patau syndrome?

It's not: Patau syndrome arises from a non-disjunction event prevents the 18 chromosome from dividing its pair & sends 2, not one to the egg. At conception the sperm brings along another 18 & there ends up being 3. The presence of the extra 18 causes the developing fetus to misread the genetic instructions and many defects occur. ...Read more

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Which type of mutation causes down syndrome?

Which type of mutation causes down syndrome?

Trisomy 21: Down syndrome is also called trisomy 21. That means that there is a partial or complete third copy of the chromosome 21. It is the most common chromosomal abnormality. ...Read more

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What are all the known causes of leaky gut syndrome?

What are all the known causes of leaky gut syndrome?

Be discerning: The claim that an extra-permeable gut admits "poisons" into the blood that cause most if not all known health problems was based on some real scientific work from the 1980's but has become a cult / pop diagnosis. It's found almost no acceptance among scientific physicians; the burden of proof's on its proponents. Self-diagnose with it and you'll never feel well again. ...Read more

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What causes turner syndrome?

What causes turner syndrome?

Lack of chromosome: Normal humans have 22 pairs of regular chromosomes (chms) and one pair of sex chms .At conception you are supposed to get one of each pair from each parent. If one of the sex (X) chms is lost from the egg, the fetus (which can survive the mistake) will be born with 22 pr of regular chms and only one X.The defect occurs in the formation of the egg. The effect on the kid varies. ...Read more

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What are the causes of raynauds syndrome?

What are the causes of raynauds syndrome?

Usually cold: Raynauds involves cold or stress induced vasospasm of small vessels in hands and feet. It is really more of an annoyance than a harmful problem. Calcium channel blockers are the most common medication that physicians use to treat the symptoms of raynauds. The main drawback is the side effects from these medicines. Keeping your hands and feet warm remains the best treatment. ...Read more

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Is poor grammar a symptom of williams syndrome?

Is poor grammar a symptom of williams syndrome?

William's Syndrome: Children and adults with williams’s syndrome have very impressive social and verbal abilities. Their verbal abilities surpass their overall IQ scores. The language used by individuals with williams’s syndrome differs notably from other children with a similar IQ who do not have williams syndrome. They also tend to use speech that is rich in emotional descriptors. ...Read more

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Is fatigue one of the common symptoms of hypermobility syndrome?

Is fatigue one of the common symptoms of hypermobility syndrome?

No: Common symptoms include subluxation or dislocation of shoulders and patella. Generalized fatigue is not a part of this syndrome. If this persists you should see your primary care doctor to look into your fatigue. ...Read more

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What is the pathophysiology of Aspergers syndrome?

What is the pathophysiology of Aspergers syndrome?

Complex: Asperger syndrome, is thought to represent alterations in brain development resulting from interactions between multiple genes and the environment. Problems in the connections between the amygdala and associated structures of the brain may play a role in the pathogenesis. People with Aspergers have difficulty with memory, facial recognition. ...Read more

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What are the symptoms of prader willi syndrome?

What are the symptoms of prader willi syndrome?

Thanks for asking!: Poor muscle tone, lack of eye coordination, poor sucking, weak cry during infancy. Behavioral problems, developmental delay, obesity in childhood. ...Read more

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Whats the genetic cause of fragile x syndrome?

Whats the genetic cause of fragile x syndrome?

Defective gene: It is an anomaly in the long arm of the x chromosome. Full mutations of the gene cause the fragile x syndrome. ...Read more

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