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Doctor insights on: Biedl Laurence Moon Syndrome

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What is bardet biedl syndrome?

What is bardet biedl syndrome?

Wow: I have to think back to medical school- best to review with a pediatrician- it is a syndrome that has many characteristic, which can have degrees of severity and may or may not exist among those affected- in other words, not all affected are necessarily alike-: it is genetic, obesity, mental deficiencies, blindness, problems with kidney function, problems with gonads, extra fingers, diabetes, wea. ...Read more

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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

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Is miller syndrome the same as miller fisher syndrome ?

Is miller syndrome the same as miller fisher syndrome ?

No: Miller Syndrome is a rare condition affecting the face and arms- here is a link with more information http://ghr.nlm.nih.gov/condition/miller-syndrome Miller-Fisher syndrome is causes poor muscle coordination and paralysis of the eye muscles - here is a link for MFS http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm ...Read more

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Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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What is 'disembarkment syndrome' or 'mal de debarquement' syndrome/mdds)?

What is 'disembarkment syndrome' or 'mal de debarquement' syndrome/mdds)?

Disembarkment: Is a rare condition occurring after a motion event such as flying. Causes feelings of swaying or rocking, imbalance, fatigue & low concentration (brain fog), headaches, dizziness. Symptoms worsen by stress or lack of sleep or loud noises. Cause unknown. Some benefit from Benzodiazepines & Repetitive Transcranial Magnetic Stimulation. ...Read more

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What is smith lemli opitz syndrome?

What is smith lemli opitz syndrome?

Inherited Condition: 1 / 20, 000- 60, 000 newborns are born w/ this condition which can cause malformations of heart, lungs, kidneys, gut & genitalia. Affected babies often have small head size, fused second & third toes &sometimes extra fingers and toes. There can be learning and behavior problems from mild to approaching autism in severity. Infants may grow more slowly, have weaker muscle tone, & have feeding issues. ...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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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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Is XXY klinefelter's syndrome related at all to marfan's syndrome?

Is XXY klinefelter's syndrome related at all to marfan's syndrome?

No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

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Is down's syndrome a recessive condition?

Is down's syndrome a recessive condition?

No: Down syndrome is not a recessive condition. It is caused by an extra chromosome #21. We normally have a pair (=two copies) of each chromosomes #1-22. Individuals with down syndrome have a third chromosome #21. Thus name "trisomy 21" as well. Here more about mechanism and heritability of down syndrome if you are interested: http://ghr.Nlm.Nih.Gov/condition/down-syndrome. ...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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On what chromosome is zellweger syndrome found?

On what chromosome is zellweger syndrome found?

Various.: Zellweger syndrome is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes involved in peroxisome biogenesis, including peroxin-1 (pex1; 602136) on chromosome 7q21, peroxin-2 (pex2; 170993) on 8q21, peroxin-3 (pex3; 603164) on 6q23-q24, peroxin-5 (pex5; 600414) on 12p13, peroxin-6 (pex6; 601498) on 6p21, peroxin-7 (pex7; 601757) on 6q22-q24, peroxin-10 (pe. ...Read more

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Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more

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Is kabuki syndrome genetic?

Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...Read more

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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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Did helen keller have usher syndrome?

Did helen keller have usher syndrome?

No: She lost her hearing and eyesight from an acute illness as a child. ...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