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Doctor insights on: Barlow Syndrome

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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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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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What's evans syndrome?

What's evans syndrome?

Anemia: Evans syndrome is a rare type of anemia in which the body makes antibodies that destroys white blood cells, red blood cells and platelets. ...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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What's hughes syndrome?

What's hughes syndrome?

Autoimmune clotting: Try here: http://www.Hughes-syndrome.Org/symptoms.Htm.

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Goldenhar syndrome treatment?

Goldenhar syndrome treatment?

Birth defect: Congenital birth defect that affects the development of the ear, nose, mandible, and palate. ...Read more

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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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Is munchausen syndrome herreitery?

Possibly: There may be some hereditary predisposition. Munchausen syndrome was reported in two brothers, two twins and couple families. ...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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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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What's patau syndrome?

What's patau syndrome?

Lethal Trisomy 13.: Patau syndrome refers to a perinatally lethal condition that results from an extra chromosome 13. It usually features holoprosencephaly microcephaly cyclopia proboscis midline facial clefting heart defects omphalocele poor growth clenched fists polyhydramnios kidney anomalies and single umbilical artery. Prompt pregnancy termination should be undertaken upon prenatal diagnosis if <24 weeks. ...Read more

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Is pots syndrome fatal?

Is pots syndrome fatal?

POTS: Syndrome is a group of symptoms pots, is postural orthostatic and tachycardia, is a dysfunction of blood pressure and heart rate , it is not fatal. ...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 postural tachycardia syndrome (dysautonomia)?

What is postural tachycardia syndrome (dysautonomia)?

Rapid heart rate up: Pots (redundant name of postural orthostatic tachycardia syndrome) is one type of dysautonomia - a word which describes problems with your autonomic nervous system. This condition causes rapid hr when you are up - sitting but worse standing though your blood pressure is maintained. Other dysautonomias can cause low BP without increase in hr. ...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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Whats kartagener's syndrome?

Whats kartagener's syndrome?

Cilia: Kartagener syndrome is an inherited disorder that prevents the cilia (little hairs that whip out foreign material) from removing material for the respiratory tracts. This causes bronchiectasis & frequent infections (pneumonia, sinusitis, bronchitis & ear infections). ...Read more

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What's turner syndrome?

What's turner syndrome?

45 X/0 Pattern: At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss.The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until lat childhood. ...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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What's guillian barre syndrome (gbs) syndrome?

What's guillian barre syndrome (gbs) syndrome?

Auto-immune reaction: A triggered auto-immune reaction usually against the myelin of peripheral nerves. In a subset of individuals, the response is also directed at the nerve cells. This causes slowing of nerve conduction and motor weakness classically in an ascending pattern from the legs proximally. The attack may be so dramatic as to cause breathing difficulty requiring a respirator. Treatment options exist. ...Read more