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Mason was diagnosed in March 2017 with DDX3X and has been confirmed as ‘de novo’. He is now 7 years old and had a rocky few years but is the happiness little boy you could ever wish to meet. He had a rare heart condition at birth and...

Apr 20, 2017 · Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The new classification , from 2017, includes 13 subtypes of EDS. Although other forms of the condition may exist, they are extremely rare and are not well-characterized.

In most instances, variations in the KAT6A gene occur spontaneously and there is no family history of the disorder (de novo variations).

Dysexecutive syndrome (DES) consists of a group of symptoms, usually resulting from brain damage, that fall into cognitive, behavioural and emotional categories ...

Marfan syndrome is a genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms of MFS is variable. MFS i

Marfan syndrome is a genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are …

Abstract. Neuroleptic malignant syndrome (NMS) is a life-threatening idiosyncratic reaction to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. It has been associated with virtually all neuroleptics, including newer atypical antipsychotics, as well as a variety of other medications that affect central dopaminergic neurotransmission.

Abstract. Neuroleptic malignant syndrome (NMS) is a life-threatening idiosyncratic reaction to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction. It has been associated with virtually all neuroleptics, including newer atypical antipsychotics, as well as a variety of other medications that affect central dopaminergic neurotransmission.

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A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Diethylstilbestrol ...

May 25, 2016 · Antiphospholipid syndrome (APS) is an autoimmune disorder. Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures. [1] APS occurs when your body's immune system makes antibodies that attack phospholipids. Phospholipids are a type of fat found in all living cells, including blood cells ...

What Is Down Syndrome?

Serotonin syndrome is an increasingly common adverse drug reaction, which can be life-threatening.1Despite the common use of medications with direct or indirect serotonergic effects, many physicians are not aware of the presentation and management of serotonin excess.2This is particularly true of less severe presentations of serotonin syndrome, which still contribute to patient morbidity.3.

Genetic counseling. Malan syndrome is inherited in an autosomal dominant manner. In the majority of cases, the pathogenic variants or deletions occur de novo.

HIGHLY RECOMMENDED READ FOR ALL - How to Remove Glyphosate from the Body and Restore Digestive Health / by John P. Thomas.

May 25, 2016 · Antiphospholipid syndrome (APS) is an autoimmune disorder.Signs and symptoms vary, but may include blood clots, miscarriage, rash, chronic headaches, dementia, and seizures. APS occurs when your body's immune system makes antibodies that attack phospholipids. Phospholipids are a type of fat found in all living cells, including blood cells and the lining of blood vessels.

Obesity hypoventilation syndrome is a breathing disorder that affects some people who have been diagnosed with obesity. The syndrome causes you to have too much carbon dioxide and too little oxygen in your blood. Without treatment it can lead to serious and even life-threatening health problems.

תסמונת דה קרוון ( De Quervain Syndrome ) הידועה גם כ טנוסינוביטיס רדיאלית (סטילואידית) ( radial tenosynovitis או styloid tenosynovitis ), (דלקת גידים רדיאלית), "טנסוסינוביטיס מצרה ע"ש דה קרוון", "תסמונת המאמץ של הכובסות", washerwoman's sprain ,או "שורש כף היד של האמהות" ( mother's wrist ), "מחלת דה קרוון", היא דלקת (טנדיניטיס) או ...

Apr 20, 2017 · Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The new classification , from 2017, includes 13 subtypes of EDS. Although other forms of the condition may exist, they are extremely rare and are not well-characterized.

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MED13L syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features.