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Doctor insights on: Colin Farrell Son Angelman Syndrome

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Dr. Neeta Jain
67 doctors shared insights

Angelman Syndrome (Definition)

A complex genetic disorder that primarily ...Read more


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Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Crouzonodermoskeleta: Crouzonodermoskeletal syndrome involves premature joining skull bones & acanthosis nigricans. Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine DES enfants, paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. ...Read more

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How old is that politicians child with edwards syndrome?

How old is that politicians child with edwards syndrome?

3: Trisomy 18 is usually fatal, but some children make it to age one and beyond. Here is a link to an article about santorum and trisomy 18 info http://republicanredefined.Com/2012/01/29/rick-santorums-daughter-bella-hospitalized-in-pennsylvania/. ...Read more

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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

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How is compartment syndrome diagnosed in kids?

How is compartment syndrome diagnosed in kids?

Same as adults: History of injury, symptoms, clinical exam and intracompartment pressure measurements. This is the same for children and adults. ...Read more

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What is Treacher Collins Syndrome?

What is Treacher Collins Syndrome?

TC Syndrome: TCS is a genetic craniofacial disorder. Complete description here: http://en.wikipedia.org/wiki/Treacher_Collins_syndrome See oral surgeon or craniofacial surgeon for surgical corrections procedures. Requires years of management by surgeon, speech therapist, pediatrician, orthodontist. ...Read more

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How is asperger's syndrome diagnosed in humans?

How is asperger's syndrome diagnosed in humans?

Questionaires: Mainly based on scoring answers on standardized questionnaires focused on asperger's symptoms. ...Read more

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Help docs, is goldenhar syndrome alike to down syndrome?

Help docs, is goldenhar syndrome alike to down syndrome?

No: Down's Syndrome is caused by a translocation of the 21st chromosome. The cause of Goldenhar syndrome is not exactly clear. Totally unrelated syndromes. ...Read more

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Is it possible that men with eagle barret syndrome/prune belly syndrome have kids?

Is it possible that men with eagle barret syndrome/prune belly syndrome have kids?

Rare, but potential: It is rare. According to this site from Urology sources. This source explains it briefly and well. http://www.pediatricurologybook.com/prune_belly.html ...Read more

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Am heartbroken that friend's child has mayer rokitansky kuster hauser syndrome. How could that have been prevented?

Am heartbroken that friend's child has mayer rokitansky kuster hauser syndrome. How could that have been prevented?

Couldn't be..: Mayer rokitansky kuster hauser (mrkh) syndrome is a structural defect of a female fetus that occurs during fetal development. The cause is unknown and no specific genetic abnormality for this defect has been identified. Mrkh occurence is unpredictable and cannot be prevented. For most of the girls affected, there is treatment available. ...Read more

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My daughter has de moriers syndrome, microcephaly, polymicrogyria and epilepsy.De moriers syndrome doctor told us it was a empty mass like hole on brain?

My daughter has de moriers syndrome, microcephaly, polymicrogyria and epilepsy.De moriers syndrome doctor told us it was a empty mass like hole on brain?

Septo-opticDysplasia: De morsier syndrome is also known as septo-optic dysplasia, an underdevelopment of the optic nerve and absence of a midline part of the brain. It can cause vision and endocrine (hormone) problems in some patients. I'm sorry to hear your daughter has this diagnosis, and i hope she is able to find treatment at a children's hospital where she can get all the specialty care she deserves. ...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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Does anyone have a new treatment for m.R.K.H (mayer rokitansky kuster hauser syndrome)?

Does anyone have a new treatment for m.R.K.H (mayer rokitansky kuster hauser syndrome)?

Surgery: Mayer-rokitansky-küster-hauser syndrome is a condition in which the vagina & uterus either never developed or they are underdeveloped. Females with this condition don’t menstruate but they do have functioning ovaries. There may be accompanying abnormalities of the kidneys, spinal vertebrae, heart or ears. Sexual function can be achieved through surgical intervention. ...Read more

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Hello docs, is angelman syndrome inherited or a disorder?

Hello docs, is angelman syndrome inherited or a disorder?

Most of the time not: Angelman syndrome, while it is a genetic condition, is rarely inherited and thus the risk of it happening again in other children of the same parents is very low, . ...Read more

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Can your toddler have noonan's syndrome with the sos1 mutation?

Can your toddler have noonan's syndrome with the sos1 mutation?

Noonan's syndrome: Ten to 15 percent of childre n with Noonan's Syndrome carry the SOS1 mutation ...Read more

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What is the life expectancy for kids who have treachers collins syndrome?

What is the life expectancy for kids who have treachers collins syndrome?

Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more

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Is treacher collins syndrome a mitochondrial disorder?

Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...Read more

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How was crouzonodermoskeletal syndrome discovered?

How was crouzonodermoskeletal syndrome discovered?

Genetic evaluation: A clinical geneticist observed a person with Crouzon disease, and noticed acanthuses nigricans with no diabetes. Published the association. Then a second case report. finally enough for the splitters to win, and they made up the godawful name, which seems to be attracting a lot of questions suddenly, and I really would like to know if this is cause some biology professor handing out homework. ...Read more

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What is gillian barre syndrome?

What is gillian barre syndrome?

Autoimmune: An autoimmune disease that attacks the myelin sheaths on your peripheral nerves. Usually starts in feet an ascends. Sometimes starts in the eyes. ...Read more