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Doctor insights on: De Lange Syndrome

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Could you explain what is cornelia de lange syndrome?

Could you explain what is cornelia de lange syndrome?

CdLS: Cornelia de Lange Syndrome (CdLS) is a genetic disorder that causes a variety of physical and cognitive problems. (http://www. Cdlsusa. Org/what-is-cdls/) ...Read more

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Can it be possible for you to carry cdls (cornelia de lange syndrome)?

Can it be possible for you to carry cdls (cornelia de lange syndrome)?

No: It is autosomal dominant. Patients with Cornelia de Lange syndrome do not reproduce. Therefore, the disorder falsely appears to be nongenetic even though it is caused by an autosomal dominant mutation. Thanks for trusting HealthTap! ...Read more

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How does cornelia de lange syndrome affect teeth development?

How does cornelia de lange syndrome affect teeth development?

In development: Cornelia de lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. It effect the skeletal development and patients can have widely spaced teeth. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. ...Read more

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My child has cornelia de lange syndrome is it normal for this kids to put their hands in their mouth?

My child has cornelia de lange syndrome is it normal for this kids to put their hands in their mouth?

Yes: It is normal for any kid to put their fingers or hands in their mouth. There are thousands of pleasure nerve fibers in the lips, and kids find them soothing. Normally functioning kids usually grow out of this habit, while those that are mentally challenged may not adapt the social skills of older regular kids. ...Read more

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What do you suggest if my child has cornelia de lange syndrome is it common for this kids to put their hands in their mouth?

What do you suggest if my child has cornelia de lange syndrome is it common for this kids to put their hands in their mouth?

Foranswers/reference: Putting hands in the mouth is a common feature of children everywhere. Not necessarily related to any specific genetic disorder. Attached there is a link to a site that offers general information and also provides other links to support sites for parents etc. Good luck!
http://ghr. Nlm. Nih. Gov/condition/cornelia-de-lange-syndrome ...Read more

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Should I be concerned if my child has cornelia de lange syndrome is it common for this kids to put their hands in their mouth?

Should I be concerned if my child has cornelia de lange syndrome is it common for this kids to put their hands in their mouth?

Cornelia de Lange: Children with Cornelia de Lange syndrome of often developmentally delayed. The frequent placement of objects and hands in the mouth is common in developmentally delayed children, but does put them at higher risk for self poisoning, illness and choking. ...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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Can you get de quervains syndrome at 15? Also can you list some symptoms thanks.

Can you get de quervains syndrome at 15? Also can you list some symptoms thanks.

Rare, but I suppose: Possible. It is tenosynovitis at wrist usually caused by overuse. Symptoms are pain on movement and local tenderness. ...Read more

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Can I use my tens machine to help treat my De Quervains syndrome?

Can I use my tens machine to help treat my De Quervains syndrome?

TENS: Or transcutaneous electrical nerve stimulation is a therapy that uses low-voltage electrical current for pain relief. The theory is that when nerves in the painful area are stimulated by electricity they send signals to the brain that block or "scramble" normal pain signals. While not commonly used in DeQuervain's tenosynovitis, there would be no problem in trying it. Good wishes:) ...Read more

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Can someone get mal de disembarkment syndrome from playing racing games for a few hours every day?

Can someone get mal de disembarkment syndrome from playing racing games for a few hours every day?

Yes: Your brain does not know if you were on a boat or just virtual reality - game graphics are quite good now so yes this is possible.
Sometimes people will even get it after imax movies. ...Read more

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What kind of doctor treats de Quervain syndrome?

What kind of doctor treats de Quervain syndrome?

De Quervain's tenosy: If you suspect de Quervain's tenosynovitis, go see your Family Doc for initial evaluation & treatment (anti-inflammatories, immobilization & PT/OT). Failing that, s/he may refer you to Sports Med doc for steroid injections. Hand surgeon can discuss surgical options. Check out http://www. Mayoclinic. Org/diseases-conditions/de-quervains-tenosynovitis/basics/definition/con-20027238 for more info. ...Read more

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My daughter has crie de chat syndrome what can I do for her?

My daughter has crie de chat syndrome what can I do for her?

Cri-du-chat or 5p-: Syndrome has a neurodevelopmental profile of Intellectual Disability, ADHD & autistic behaviors + low muscle tone. My 1 long-time patient with CdCS has been helped by Applied Behavioral Analysis, very low doses of medications for hyperactivity, physical aggression, & compulsive behaviors, Picture Exchange Communication, OT, PT & speech therapies. See www. Fivepminus. Org for more suggestions. ...Read more

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Can de quarvains syndrome reappear a month or two after treatment?

Can de quarvains syndrome reappear a month or two after treatment?

Yes: It can certainly reappear if the treatment was conservative management including nsaids, splints, steroid injections. If the symptoms continue you may need surgical release for definitive treatment. A complete evaluation by a hand surgeon will also ensure the diagnosis is correct. ...Read more

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Can someone with mal de disembarkment syndrome have fluid in the middle ear?

Can someone with mal de disembarkment syndrome have fluid in the middle ear?

Mal de Mer??: It is possible to have fluid in the middle ear to cause this or just feel sea sick and not being on the boat after disembarking. Dizziness, lightheadedness, nausea can be caused by many things. Fluid in middle ear might have been caused by having a cold or sinus problem and not being on a ship. If symptoms do not improve being on land for 24 hours see your family physician or sooner if worse. ...Read more

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My daughter has de moriers syndrome, microcephaly, polymicrogyria and epilepsy. De moriers syndrome doctor told us it was a empty mass like hole on brain?

My daughter has de moriers syndrome, microcephaly, polymicrogyria and epilepsy. De moriers syndrome doctor told us it was a empty mass like hole on brain?

Septo-opticDysplasia: De morsier syndrome is also known as septo-optic dysplasia, an underdevelopment of the optic nerve and absence of a midline part of the brain. It can cause vision and endocrine (hormone) problems in some patients. I'm sorry to hear your daughter has this diagnosis, and I hope she is able to find treatment at a children's hospital where she can get all the specialty care she deserves. ...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

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What is reye's syndrome?

What is reye's syndrome?

Deadly process: First noted in the 60'sand peaking in the 70's, this is a pattern of acute liver failure, coma and often death. It often struck kids recovering from flu or chickenpox. Its cause is unclear, but an association with intake of any salicylate product was recognized. After salicylates were stopped for kids under 16, the condition has all but disappeared. ...Read more

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What is ashburg syndrome?

What is ashburg syndrome?

Asperger syndrome: I'm assuming is Asperger syndrome. Is a mild form of autism. Consult with a pediatric psychologis & psychiatrist. ...Read more

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What is Alstrom syndrome?

What is Alstrom syndrome?

Very rare genetic dz: This is a very, very rare genetic disorder, which can cause obesity, blindness, and hearing loss. See this article: https://en. Wikipedia. Org/wiki/Alstr%C3%B6m_syndrome ...Read more

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What is horner's syndrome?

What is horner's syndrome?

Read: Horner's syndrome is the combination of drooping of the eyelid (ptosis) and constriction of the pupil (miosis), sometimes accompanied by decreased sweating of the face on the same side; redness of the conjunctiva of the eye is often also present. It indicates a problem with the sympathetic nervous system. ...Read more

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What is hoigne's syndrome?

What is hoigne's syndrome?

Penicillin injection: Hoigne syndrome is due to an embolism caused by injection of procaine penicillin into muscle with subsequent neurologic problems. It is hypothesized that some of the drug may have entered the blood stream. ...Read more

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What is sjögren’s syndrome?

What is sjögren’s syndrome?

Dryness arthritis: Typically it is dryness of eyes, mouth, arthritis, swelling of salivary glands. ...Read more

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What is kallman's syndrome?

What is kallman's syndrome?

Genetic Condition: Kallmann's syndrome is a genetic condition characterized by the failure to commence or complete puberty.

It causes hypogonadism (low level of circulating sex related hormones; testosterone in men and estrogen and Progesterone in women) and is accompanied by a total lack of the sense of smell (anosmia) or a heavily reduced sense of smell (hyposmia).

The diagnosis is made by a full endocrine eval. ...Read more