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Doctor insights on: Handling Sturge Weber Syndrome Condition

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Is sturge weber syndrome is progressive disease?

Is sturge weber syndrome is progressive disease?

Not progressive: But will always need follow up eye exams to monitor for possible glaucoma. ...Read more

Dr. James Chapman
9 doctors shared insights

Sturge Weber Syndrome (Definition)

Sturge-weber syndrome is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and nervous system problems. The cause ...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 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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What is hemorrhagic telangiectasia also known as oslo weber rendu syndrome?

What is hemorrhagic telangiectasia also known as oslo weber rendu syndrome?

Same: Oslo rendu weber involves vascular malformations on mucosal surfaces and is a congenital genetic disease. These vascular abnormalities frequently bleed. ...Read more

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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 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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Is munchausen syndrome hereditary?

nature and nurture: Like most mental health conditions, munchausen's is most likely a complex interplay between the genome and developmental/ socioemotional influences. ...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 nephrotic syndrome hereditary?

Is nephrotic syndrome hereditary?

See below: Some causes of nephrotic syndrome are due to herediary causes, eg one of the causes of fsgs also called focal and segmentalglomerulosclerosis. ...Read more

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Is WPW syndrome a genetic disease?

Is WPW syndrome a genetic disease?

Yes: While WPW syndrome is genetic, not every patient behaves or is treated the same way. A good percentage of the WPW population will not need any treatment as they do not have fast heart rates (arrhythmias). At the other end of the spectrum however, live patients with WPW who may need ablation or possibly an icd. The proper course of action is determined by an electrophysiologist usually. ...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 paraneoplastic syndrome genetic?

Is paraneoplastic syndrome genetic?

No: There is no genetic relationship to the development of a paraneoplastic syndrome. ...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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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 turners syndrome a genetic disorder?

Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It is a disorder exclusive to females. Those with ts are born with it. Manifestations vary depending on the genetics. Small stature is one feature most girls have in common with each other. ...Read more

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How is Stockholm syndrome diagnosed?

Stockholm: By initially noticing the victim being sympathetic toward his/her captors, AKA identification with the aggressor. ...Read more

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Is Marfan syndrome a sex-linked disease?

Is Marfan syndrome a sex-linked disease?

No: Marfan syndrome is an autosomal dominant connective tissue disorder caused by abnormal microfibrillin protein. If a parent is affected by the disorder, their offspring has a 50/50 chance of inheriting it, regardless of whether the baby is a boy or a girl. ...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 is klippel trenaunay syndrome?

What is klippel trenaunay syndrome?

Let me explain: Klippel–trénaunay syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. ...Read more