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Doctor insights on: Jacobsen Syndrome

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What are the prenatal tests for jacobsen syndrome?

What are the prenatal tests for jacobsen syndrome?

CVS or amnio: A woman can undergo chorionic villous sampling between 10-13 weeks or amniocentesis between 15-24 wks for chromosomal analysis which will reveal the 11q deletion. ...Read more

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Can someone with Jacobsen syndrome have children?

Can someone with Jacobsen syndrome have children?

Maybe: This is a complicated condition and many children will have developmental/intellectual delays. Best if you make an appointment with a Genetic Specialist who can guide you through the diagnosis and possible outcomes. Here's an article that you may find helpful. http://ghr.nlm.nih.gov/condition/jacobsen-syndrome ...Read more

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What types of foods can children eat with jacobsen syndrome?

What types of foods can children eat with jacobsen syndrome?

No restrictions: I have identified only one child with 11q terminal deletion syndrome ( in 36 years), but it was recently. I double-checked, because i didn't remember any dietary restrictions. Feed him whatever any child of his developmental age could eat. I hope you have been able to access all needed specialists - cardiology, hematology, ophthalmology, ortho, db pedes, genetics, as well as special education. ...Read more

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What's pisa syndrome?

Pisa syndrome: A persistent administration of antipsychotic can produce persistent dystonia , which is called pisa syndrome. ...Read more

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What is mrkh syndrome?

What is mrkh syndrome?

MRKH Syndrome: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome - the vagina & uterus are underdeveloped or absent. ...Read more

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What's downs syndrome?

What's downs syndrome?

Downs syndrome: Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. ...Read more

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What's ribtip syndrome?

What's ribtip syndrome?

Rib-tip Syndrome: Rib-tip syndrome is also called “costo-iliac impingement syndrome”. It occurs when the top of the hip bone touches or rubs on the lowest rib & leads to pain. ...Read more

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What is berhs syndrome?

What is berhs syndrome?

Genetic blindness: This is an autosomal recessive disease (i.e., the patient inherits one defective gene from each parent), with progressive loss of vision and sometimes other neurologic problems. Carriers (one copy of the gene) may have some visual problems. There is no specific treatment, and my hope is that if you or someone you know is affected, good supportive care will be available. ...Read more

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What is sharpe syndrome?

What is sharpe syndrome?

Sharpe Syndrome : Its another name for mixed connective tissue disease, an autoimmune disease with features of systemic lupus erythematosus, scleroderma, and polymyositis, sometime referred to as undifferentiated connective tissue disease. Individuals who have this condition are best served by a rheumatologist (an internist with subspecialty training in rheuamtology). ...Read more

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What is cowden syndrome?

What is cowden syndrome?

Tumor family: This is a fairly common trait passed parent-to-child, 50% chance, in which certain tumors are substantially more common and there may be curious bumps especially on the skin. It is not curable but if good surveillance for tumors is maintained, it's manageable. Several genetic loci are known especially pten, and genetic counseling is available. ...Read more