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Doctor insights on: Syndrome Will Born

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Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?

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

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Can someone with turner syndrome have kids?

Can someone with turner syndrome have kids?

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

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What is the average lifespan of baby born with trisomy 13, patau syndrome?

What is the average lifespan of baby born with trisomy 13, patau syndrome?

Days/weeks.: Stillbirth (see picture) is very common. Of liveborns, 80% of affected infants die within the first month of life; only 5% survive the first six months. Severe intellectual disability, seizures, and failure to thrive are noticeable in survivors over 1 year of age. No interventions for fetal benefit are ethically justifiable during pregnancy (no cesarean section, no fetal monitoring indicated). ...Read more

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How do babies with prader willi syndrome develop over the first few months?

How do babies with prader willi syndrome develop over the first few months?

Low muscle tone: Babies with prader-willi typically have low muscle tone. Because of that, they can have poor feeding, poor weight gain, and delays reaching their motor milestones. The overeating which is characteristic of prader-willi doesn't begin until sometime after a year of age. ...Read more

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Can you explain mosaic turner syndrome?

Can you explain mosaic turner syndrome?

Timing of error: At conception , the embryo begin duplicating the chromosomes (chms) donated by egg & sperm to form the 23 chromosome pairs. If one x chm didn't make it , you will only have a turner pattern (45 chms xo) . If a normal xx pattern starts but an x is lost after several divisions the mosaic is created by having one normal 46xx & another 45xo cell lines replicating throughput the body. ...Read more

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Can an infant survive shaken baby syndrome?

Can an infant survive shaken baby syndrome?

Yes: Many fairly severe head injuries in children are recoverable. Current research suggests that the brain has remarkable ability to recover and is considered to be more and more "plastic" than we previously thought. ...Read more

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Could osteogenesis imperfecta look similar to shaken baby syndrome in a deceased infant?

Could osteogenesis imperfecta look similar to shaken baby syndrome in a deceased infant?

Location/type of fx: Oi has several sub forms and the type & location of their fx are often used to help classify their subgroup. That said, the type and pattern of intentional trauma is recognizable. Breaks that show symetrical shoulder fx from shaking of a child lifted by his upper arms/ circumferential skull fx, etc. I believe a sub-board of pediatrics recognises those with the added training to sort these out. ...Read more

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How can turner syndrome affect development ?

How can turner syndrome affect development ?

Online resources: Turner syndrome is caused by absence of one of the female x chromosomes and can have several effects on growth and development. The genetics home reference is a good source for information on chromosomal conditions: http://ghr.Nlm.Nih.Gov/condition/turner-syndrome. Two other good sources are the turner syndrome society and foundation: http://turnersyndrome.Org ; www.Turnersyndromefoundation.Org. ...Read more

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Can people who are born with treacher collins syndrome, after surgeries, end up ok?

Can people who are born with treacher collins syndrome, after surgeries, end up ok?

Absolutely!: Results, both functional and esthetic will vary depending on the severity of the defects. Some treacher-collins patients do have some developmental disabilities as well as hearing and speech problems. Your best bet for advice for the long-term is being a patient in a comprehensive, multi-disciplinary cleft and craniofacial clinic. ...Read more

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Does the Asperger syndrome have xyy chromosome?

Does the Asperger syndrome have xyy chromosome?

Not by definition: Someone with xyy may has asperger's disorder but that is not part of the disorder itself. ...Read more

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Can edwards syndrome be inherited?

Can edwards syndrome be inherited?

Edwards syndrome: Edwards syndrome is better known as trisomy 18. It is caused by imperfect division of the chromosomes with an extra chromosome ending up in the embryo. That process can happen to anyone. ...Read more

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Can a baby recover from shaking baby syndrome?

Depends: This causes brain hemorrhage and recovery obviously depends on how severe that is. Of course, it should not happen in the first place because it is a form of child abuse. ...Read more

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Can a prematured baby with respiratory distress syndrome fully recovered?

Can a prematured baby with respiratory distress syndrome fully recovered?

Absolutely: There have been many studies showing excellent lung function in children who suffered from respiratory distress syndrome as premies. However, these babies may be more susceptible to long term consequences to the developing lungs of viral infections, cigarette smoke and allergens. ...Read more

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Can you tell me how many babies with harlequin fetus syndrome are born each year?

Can you tell me how many babies with harlequin fetus syndrome are born each year?

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

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Do babies with caudal regression syndrome survive long?

Do babies with caudal regression syndrome survive long?

Depends: Usually not to long, but some mild cases have survived. ...Read more

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What health complications can develop from turner syndrome?

Depends on situation: Many issues are present & evident from birth & some become apparent over time. Kidney & heart defects can be looked for at birth before problems arise. Poor school performance, short stature and lack of sexual development will be evident later. With proper attention to patient needs these kids can live a comfortable life. ...Read more

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Can a Down syndrome baby be not retarded?

Can a Down syndrome baby
 be not retarded?

Range of intelligenc: Children with Down syndrom have a range of intelligence. Those at the higher end are usually at the low end of the average range and can be quite independent. ...Read more

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My niece was diagnosed at birth with goldenhar syndrome. Does every one with goldenhar syndrome has or will develop scoliosis?

My niece was diagnosed at birth with goldenhar syndrome. Does every one with goldenhar syndrome has or will develop scoliosis?

Not specificly: The syndrome is also known as the oculo-auriculo-vertebral syndrome since a non- random association of eye/ear/& vertebral anomalies is seen.Not all patients exhibit all features.While the neck or lower back vertebrae are often misshapen in some, which can trigger scoliosis, not all will. Also, as anyone ages they can develop scoliosis from factors unrelated to the syndrome. ...Read more

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Are cerebral palsy, osteogenesis imperfecta or downs syndrome passed on to your children?

Are cerebral palsy, osteogenesis imperfecta or downs syndrome passed on to your children?

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

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Can you tell me how many babies with harlequin fetus syndrome are born each year?

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

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I have 2 kids one has a major heart defect and has aspergers syndrome. My other was born 100% healthy.What are my odds of having another healthy baby?

I have 2 kids one has a major heart defect and has aspergers syndrome. My other was born 100% healthy.What are my odds of having another healthy baby?

It Depends: There may be more factors to consider before arriving at reasonably predictable odds. I suggest, you seek out a medical geneticist for your best answer. There are dna tests needed along with a precise history from both sides of the family; then the odds can be calculated. It would, in my opinion, be unethical to give you the answer you want without having much more data. Good luck. ...Read more

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What to do if i think my boyfriend has short gut syndrome because of being born with his intestines on the outside?

What to do if i think my boyfriend has short gut syndrome because of being born with his intestines on the outside?

Intestine function?: Short gut usually refers to the length of intestine, but it can also refer to cases in which intestine function is not normal. We now use the term "intestine failure" because some patients with short gut have normal function. If your boyfriend can maintain his weight and hydration and nutrition status, and doesn't have excessive diarrhea, he should be fine. If not, he may require further testing. ...Read more

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If I play tennis once and get an overuse injury can it cause the thoracic outlet syndrome or are you born with it?

If I play tennis once and get an overuse injury  can it cause the thoracic outlet syndrome or are you born with it?

No: Thoracic outlet syndrome is generally not an 'overuse' injury but can symptoms can be initiated by athletic or work endeavors , etc.In my orthopedic practice TOS is most often caused by a 'cervical rib' or other anatomic variant.See an experienced ORS for examination, Xrays, . Best of Luck!! ...Read more

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My 3 yr old daughter was diagnosed with short bowel syndrome when she was born. She has been pooping on her self lately so what's going on?

My 3 yr old daughter was diagnosed with short bowel syndrome when she was born. She has been pooping on her self lately so what's going on?

See your doc!: This sort of thing is unusual. An increase in the number of bowel movements should be investigated further. It can mean that the bowel is not absorbing the food nutrients effectively, and that it is just passing through. Has your child's diet changed? Another cause could be an infection. Ignoring this situation could cause dehydration or irreversible damage, so you really need to see her doctor. ...Read more

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What are the causes of people to be born with down syndrome?

What are the causes of people to be born with down syndrome?

Extra chromosome 21: A woman's chances of giving birth to a child with down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with down syndrome is 1 in 400. By age 45, the risk is 1 in 35. However, most children with down syndrome are actually born to women under age 35 because younger women have far more babies. ...Read more

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What are some of the causes for a child to be born with down syndrome?

What are some of the causes for a child to be born with down syndrome?

Several possible: The features of down syndrome are dependent on the addition of one extra segment of a 21 chromosome which is more likely as women age .You can get this several ways. The traditional DS (~95%) has 3 copies of a 21 chromosome. About 4% have the specific extra 21 piece stuck on a regular chromosome (trans-location).About 1% have a mosaic of some normal and some 21 trisomy in variable amounts. ...Read more

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If you have Marfan syndrome, will they know it immediately after you are born?

If you have Marfan syndrome, will they know it immediately after you are born?

Likely Not: Diagnosing marfan syndrome is based on a long list of specific criteria. Most infants will not exhibit the symptoms immediately after birth. So it is very unlikely to know immediately. ...Read more

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Can menkes disease or syndrome show later in life? Can It unnoticed until adulthood? Is this possible? Are you always born with it?

Can menkes disease or syndrome show later in life? Can It unnoticed until adulthood? Is this possible? Are you always born with it?

Yes, Yes and Yes: Depending on the nature and degree of aberrant functioning of the gene ATP7A, responsible for copper transport and absorption, one can have classic Menkes disease in childhood, a variant now called Occipital Horn Disease in young adulthood or distal motor neuropathy in mid life. Most of the time the clinical picture does not vary within a family but sometimes it can. For a more detailed discussion of this very compl;ex matter, please schedule a virtual consult. Do consider chromosomal microarray testing and genetic counseling. This gene is X linked so the disease cannot be passed from the father but the gene can be passed to a daughter who will then pass it to her child 50% of the time.. ...Read more

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Hi, a quick question, I have a six week old niece, when she was born there was worries she was down syndrome , she got all the tests and thank god they came back clear, my question is could the tests have been wrong, cause there is times you look at her a

Hi, a quick question, I have a six week old niece, when she was born there was worries she was down syndrome , she got all the tests and thank god they came back clear, my question is could the tests have been wrong, cause there is times you look at her a

Test limits: I will assume that the tests that were completed was specific to look for a chromosomal abnormality. The typical ds diagnosis can be ruled out, but the test does not exclude other problems that can give an infant an unusual look, or might be a problem in the future. The pcp can monitor the situation over time & look for other issues if there appears to be a need for additional study. ...Read more

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Are individuals born with proteus syndrome?

Are individuals born with proteus syndrome?

Yes: Yes, this a rare physical disorder that is not "caught" from the environment. In at least some cases a connection has been found with a specfic genetic defect. ...Read more

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My granddaughter is 3months old and she was born with nager syndrome .Is there any infor for us aboit this?

A congenital problem: Nager syndrome is a rare congenital problem with many findings - undeveloped cheek and jaw; downward slant of eyes; absence of eyelashes; kidney and GI reflux; palate problems; poor hearing; occasionally scoliosis. Normal development, however. Depending on severity, craniofacial surgery may improve some of these findings. Best to be evaluated at an experienced children's hospital. ...Read more

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I was born with one kidney. Is it possible to develop potter syndrome with only one kidney?

I was born with one kidney. Is it possible to develop potter syndrome with only one kidney?

No: The potter syndrome arises when the fetus does not make pee during pregnancy.It is not a lot, but it adds to the fluid surrounding the fetus & provides a cushion between the fetus & the uterus muscle.When there is no pee =no cushion, the fetus is squeezed tight & there is no room for the lungs to develop.One kidney makes enough during pregnancy & you never develop Potter syndrome after birth. ...Read more

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Is it possible for a baby to be born a dwarf and also have down syndrome? How rare is a down dwarf?

Is it possible for a baby to be born a dwarf and also have down syndrome?  How rare is a down dwarf?

Excedingly rare: I had occasion many years ago to investigate such a situation & needed to find answers for why some kids with ds chromosomes (t21) had totally different physical features. Run the numbers: achondroplasia (common new mutation dwarf) @ 1/15, 000 x 1/1700 (risk of ds @ 21)=1/25, 000, 000. ...Read more

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I was born with Advanced Sleep Phase Syndrome but now I don't find it useful or funny at all! How to correct this body disorder? Thank you.

I was born with Advanced Sleep Phase Syndrome but now I don't find it useful or funny at all! How to correct this body disorder? Thank you.

Bright light therapy: Once diagnosed, ASPD can be treated with bright light therapy in the evenings or behaviorally with chronotherapy. Unlike other sleep disorders, ASPD does not disrupt normal functioning at work during the day and the patient does not complain of excessive daytime sleepiness. ...Read more

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My new born has bartters syndrome. how can I treat her? currently she is in nicu

My new born has bartters syndrome. how can I treat her? currently she is in nicu

Mgt: More details would be helpful and can be uploaded to a virtual inbox consultation. Based on your description, correction of fluid and electrolyte imbalance is an important part of the management. Were there any complications during your pregnancy? Does your baby have any respiratory difficulty? ...Read more

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Can you prevent your child from being born with down syndrome?

Can you prevent your child from being born with down syndrome?

Any pregnancy @ risk: There is a risk of unexpected outcome with any pregnancy of at least 4%.(premi, cleft, chromosome defect) ds risk is present with any pregnancy. Those who want can have the chromosome makeup of the fetus tested during pregnancy. The procedures have risk & should only be used when considering termination.The lowest statistical risk occurs with pregnancy in the early 20's. ...Read more