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Ataxia Prader Willi Syndrome How To Feed Newborn With
Ataxia means movements without coordination. People with ataxia have incoordination because the parts of the nervous system that control movement and balance are not working properly. Ataxia can be associated with infections, injuries, or degenerative changes in the central nervous system. Ataxias may be hereditary ...Read more
Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?
Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. http://ghr.nlm.nih.gov/ is really good (thanks uncle sam). ...Read more
Cerebellar disorder: The dandy walker malformation is a defect of the outflow of fluid from the fourth ventricle of the brain. This can result in a large cyst, and can be associated with poor development of the cerebellum. Poor cerebellum function can result in poor muscle tone and poor balance that can be called hypotonia. This usually responds to therapy. Usually no surgery is necessary unless the cyst is severe. ...Read more
No,no,maybe: CP is an injury to the developing nervous system,it is not inherited. There are several forms of Osteogenisis imperfecta and their inherance varies.some do not survive infancy, some require an OI gene from both parents.Down syndrome males are usually sterile, females can reproduce and just under 50% of their babies would be DS. ...Read more
Noonan's syndrome: Ten to 15 percent of childre n with Noonan's Syndrome carry the SOS1 mutation ...Read more
Bartter Syndrome is: A group of genetic disorders caused by 5 mutations inherited in an autosomal recessive pattern . When both parents carry the same mutation, each of their children has a 25% chance of having bartter syndrome. Type 4 is associated with "nerve deafness." altered re-absorption of electrolytes by the kidneys impacts health, growth & development. See: http://barttersite.Org/what-is-bartters-syndrome/. ...Read more
Very rare...: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. Harlequin ichthyosis is very rare; its exact incidence is unknown. Mutations in the abca12 gene cause this disease. The abca12 gene provides instructions for making a protein that is essential for normal skin development. ...Read more
Yes: Seizures can be seen in people with dandy-walker malformation. Seizures are sudden changes in mental status, abnormal involuntary movements or behaviors that are due to abnormal electrical discharges in the brain. Usually, seizures are not harmful, but can be if prolonged (like >20 minutes) or they interfere with breathing and oxygen being delivered to the brain. ...Read more
Motor and vocal tics: Diagnostic criteria for tourette syndrome includes the presence of 2 or more motor tics and 1 or more vocal tics that start before the age of 21 and have been present for at least 12 months. The tics may come and go and may be simple or complex. There also should not be any medical cause for the tics. ...Read more
Can you tell me how hdn (haemolytic disease of the newborn) illustrates incomplete penetrance, variable expression, genotype-environment interaction?
Homework?: Is this a homework question for a class you are taking? ...Read more
Genetic testing: Rett´s syndrome is a genetic disorder almost always affecting girls. Genetic testing as well as a very detailed exam can give you answers. Typically girls start off with normal development up until about 18 months, sometimes the first symptom is the arms and legs get floppy, and loss of hand movements that are purposeful. It afects the brain, cognition and breathing patterns amongst other things. ...Read more
Perhaps: Females with turner's syndrome have only one normal x chromosome and have amenorrhea, no ovulation, and are sterile. There is a condition called mosaic where there may be a defective or partial x chromosome along with a normal one. Now, with modern technology such as oocyte donation some women with turner's may carry a pregnancy. There are other risks, however. ...Read more
Very poor: Munchausen syndrome is a chronic condition that can be very difficult to treat. Most people with munchausen syndrome deny they are faking symptoms and will not seek or follow treatment. Even with treatment, it is more realistic to work toward managing the disorder rather than to try curing it. ...Read more
Can grandparents carry a mutation to cause Asperger syndrome in grandchildren, skipping a generation?
Not that simple: For the most part what are inherited are genes coding for (snp)single nucleotide polymorphisims-different forms of enzymes that do not digest certain proteins. It is possible to be the contributor of (at most 1/4 total)genes that might contribute to certain symptom patterns. ...Read more
Chromosome 2: p12-11.2 Deletion Syndrome can cause unusual facial features, developmental delays, small head circumference, & increased risk of kidney tumor. Seek a clinical evaluation by a geneticist who has reviewed baby's pre-, peri- & postnatal medical history,head & body growth charts, family history & results of Chromosomal Microarray on baby & parents to obtain a correct diagnosis & prognosis. ...Read more
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