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Doctor insights on: Velocardiofacial Syndrome

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Dr. Marvin Ott
6 doctors shared insights

Velocardiofacial Syndrome (Overview)

Velocardiofacial syndrome is a genetic condition that is characterized by cleft palate, heart defects, low immune system, low calcium levels, abnormal kidney formation, learning difficulties and characteristic facial appearance. Some people have very mild forms (or no symptoms at all). It's caused by a deletion in chromosome 22q11, and is a variant of the same disorder that is DiGeorge 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

Dr. Marvin Ott
6 doctors shared insights

Velocardiofacial Syndrome (Overview)

Velocardiofacial syndrome is a genetic condition that is characterized by cleft palate, heart defects, low immune system, low calcium levels, abnormal kidney formation, learning difficulties and characteristic facial appearance. Some people have very mild forms (or no symptoms at all). It's caused by a deletion in chromosome 22q11, and is a variant of the same disorder that is DiGeorge syndrome.


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What exactly is velocardiofacial syndrome?

What exactly is velocardiofacial syndrome?

Genetic Disorder: A microdeletion of chromosome 22q11.2, usually a new mutation; 6-10% chance it came from a parent by autosomal dominant (50% chance) transmission. Most have intellectual disability, small head, motor & language delay; many also have autism & adhd. Unusual facial features.Risk of congenital anomalies of heart, palate, kidneys & immune system. Teens & adults may develop other psychiatric disorders. ...Read more

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Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
once
Reverse PCOS & problems with HFLC foods, study: http://goo.gl/JH8XBX
daily
Monitor your weight and review your diet daily.
daily
Blend exercises which make sense into your daily routine
daily
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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 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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Living with Down Syndrome (Checklist)

Get genetic counseling.
Once
Enroll in early intervention program.
Once
Get help from local and national support groups.
Once
Consider help from mental health workers.
Once
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Whats compartment syndrome?

Whats compartment syndrome?

CS: It is a very severe and serious condition that can result in nerve and muscle damage if not treated. It results from pressure on those tissues, often from fracture, crush injury or lack of blood flow to the tissue. ...Read more

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I'm having cleft palate, could it be velocardiofacial syndrome and what are the other symptoms?

Unlikely: The majority of isolated cleft palates (meaning no lip involvement) are nonsyndromic (not associated with a syndrome). Associated signs and symptoms include cardiac abnormalities, abnormal facial features and learning disabilites. Genetic testing is only way to know for sure if suspicious clinically. ...Read more

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Dr. Andrew Seibert Dr. Seibert
<b>1</b> doctor agreed:
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Living with Irritable Bowel Syndrome (Checklist)

Try to notice and avoid precipitating factors
Once
Start a trial of increased dietary fiber
Once
See your PMD or gastroenterologist if symptoms persist
Once
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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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Hows patau syndrome inherited?

Hows patau syndrome inherited?

Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divide properly at the time of fertilization. This accident causes a baby to get an extra number 13 chromosome in every one of its cells. Trisomy 13 is rare, but a very serious condition. Most babies with it die before birth or shortly after birth. ...Read more

Dr. John Landi Dr. Landi
<b>1</b> doctor agreed:
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Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
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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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Is prader willi syndrome hereditary?

Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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Dr. Joshua Batt Dr. Batt
<b>1</b> doctor agreed:
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Managing Carpal Tunnel Syndrome (Checklist)

Visit your medical provider for accurate diagnosis
Once
Wear a wrist brace at night
daily
Take pain medications as directed
Once
Use proper posture when performing tasks
Once
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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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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

Dr. Felix Toro Dr. Toro
<b>1</b> doctor agreed:
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Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Listen, listen, listen
once
Practice stress management and mindfulness
2x day
Do not be afraid to Ask for feedback
3x day
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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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