Question 1

what exactly is velocardiofacial syndrome?

Accepted Answer

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.

Question 2

i have a fraternal twin brother with microdeletion 22q11.2 (velocardiofacial syndrome). what are the chances my children will have the same disorder?

Accepted Answer

Minimal: These odd micro-deletion syndromes are thought to arise as new defects which could be dominantly passed. Unless you carry it, you won't pass it to your kids and they would have the same risk as the general population to acquire it (new). You might benefit from discussing any and all genetic risk issues from both sides of the family with a geneticist.

Question 3

what are the signs of triple-x syndrome?

Accepted Answer

Triple X: Tall stature, small head, vertical skin folds that may cover the inner corners of the eyes, delayed development of certain motor skills/speech/language, learning disabilities such as dyslexias, weak muscle tone.

Question 4

what are the signs and symptoms of turrets syndrome?

Accepted Answer

Let me explain: Inherited neuropsychiatric disorder with onset in childhood, characterized by multiple tics and at least one vocal tic. These tics characteristically wax and wane, can be suppressed temporarily, and are preceded by a premonitory urge. Tourette's is defined as part of a spectrum of tic disorders, which includes transient and chronic tics.

Question 5

what are the signs and symptoms of sjorgren's syndrome?

Accepted Answer

Sjogren's syndrome: Two main symptoms are dry eyes and dry mouth. Other symptoms may include joint pain, swelling and stiffness, swollen salivary glands — particularly the set located behind your jaw and in front of your ears, skin rashes or dry skin, vaginal dryness, persistent dry cough, prolonged fatigue.

Question 6

what are signs of cushing syndrome?

Accepted Answer

There are many: Many patients have multiple signs & symptoms, including (but not limited to): facial plethora, violet colored striae ("stretch marks"), high blood pressure, glucose intolerance, weight gain, facial roundness, weakness, and "central" obesity (i.e., in the truncal area). Acne, decreased libido,  & menstrual irregularities are common. Detailed exam & testing are necessary to rule out related conditio.

Question 7

what are the signs of toxic shock syndrome?

Accepted Answer

Very sick: Usually fever, very high &gt;102, rigors (not just chills like the flu), low blood pressure, low urine output. It progresses rapidly and can be life-threatening. It can come from an infection in the vagina that gets into the pelvis or from a rapidly spreading skin or soft tissue infection, that is extremely painful-not just a bit painful. Seek attention immediately.

Question 8

what are the first signs of toxic shock syndrome?

Accepted Answer

Fever and rash: Fever, faint sunburn type rash which may not be noticed, sore throat, vomiting, diarrhea,  lightheadedness,  severe weakness, in ability to stand up, just feeling very sick.

Question 9

what are the signs and symptoms of  hellp syndrome?

Accepted Answer

HELLP syndrome: Hellp syndrome is a severe form of pre-eclampsia where the liver enzymes are elevated and platlets are dangerously low. This is found on lab work. Blood pressure is high, there is elevated protein in the urine. She may have vision changes, severe headache, vomitting, pain in the upper right belly, and possibly seizures or strokes. Delivery is crucial to save mom, no matter how many weeks till due.

Question 10

what are the signs and symptoms of asperger's syndrome?

Accepted Answer

Many: Asperger syndrome is a pervasive developmental disorder (pdd) or autism spectrum disorder (asd).  Asperger syndrome differs from autistic disorder is that children with Asperger syndrome do not have speech or cognitive delays. For a good overview see http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0002516/.

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Doctor answers about:

Velocardiofacial syndrome signs

A member asked:

What exactly is velocardiofacial syndrome?

A member asked:

I have a fraternal twin brother with microdeletion 22q11.2 (velocardiofacial syndrome). what are the chances my children will have the same disorder?

A member asked:

What are the signs of triple-x syndrome?

A member asked:

What are the signs and symptoms of turrets syndrome?

A member asked:

What are the signs and symptoms of sjorgren's syndrome?

A member asked:

What are signs of cushing syndrome?

A member asked:

What are the signs of toxic shock syndrome?

A member asked:

What are the first signs of toxic shock syndrome?

A member asked:

What are the signs and symptoms of hellp syndrome?

A member asked:

What are the signs and symptoms of asperger's syndrome?

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