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Colin Farrell Son Angelman Syndrome
What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more
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
No: It is not associated.Get a more detailed answer ›
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
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
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 moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
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
Noonan's syndrome: Ten to 15 percent of childre n with Noonan's Syndrome carry the SOS1 mutation ...Read more
Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more
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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