Marfan syndrome (a.k.a. Marfan’s syndrome or the Marfan syndrome) is a genetic disorder that predisposes to the formation of thoracic aortic aneurysms. It is due to an abnormality in the gene responsible for the formation of fibrillin-1, which is a major structural component of the fibers called elastin that give the normal aorta its remarkable strength. A defect in elastin makes the aorta weak, and a weak aorta is prone to stretch over time and become an aneurysm.

Symptoms of ankylosing spondylitis appear most frequently in young men between the ages of 16 and 35. It is less common in women, whose symptoms are often milder and more difficult to diagnose. About five percent of ankylosing spondylitis begins in childhood; boys are more likely to have it than girls. When children develop ankylosing spondylitis, it usually begins in the hips, knees, bottoms of heels, or big toes and may later progress to involve the spine. Ankylosing Spondylitis.

People with Marfan Syndrome have the same chance as everyone else of having allergies - asthma, hayfever, rashes, etc. They are not related to the disorder and need the same treatment as in everyone else. (Asthma may aggravate the Marfan Syndrome-related

Marfan syndrome is diagnosed based on a thorough physical examination of various body systems and a detailed family history. Certain tests such as an echocardiogram of the heart and a detailed eye examination by an ophthalmologist provide valuable information in the evaluation of patients for the Marfan syndrome.

Marfan Syndrome frequently affects the mitral valve in the heart and can also affect the aortic valve. Either, or both, of these results in chronic tiredness. Plenty of sleep is needed.

A faulty mitral valve in the heart can lead to tachycardia (fast or irregular heartbeats - palpitations). This can cause a feeling of light-headedness as well as the strange pulse-rate. It is usually triggered by stress - physical, mental or psychological. Many Marfan Syndrome teenagers also seem to "outgrow" their strength during their excessive growth spurt.

There is no specific diagnostic laboratory test commercially available to determine if someone has Marfan syndrome. The diagnosis is based on clinical findings and past medical history while taking into account family history.

What distinguishes Asperger's Syndrome from autism is the severity of the symptoms and the absence of language delays. Children with Asperger's may be only mildly affected and frequently have good language and cognitive skills. To the untrained observer, a child with Asperger's may seem just like a normal child behaving differently. They may be socially awkward, not understanding of conventional social rules, or show a lack of empathy.

Until recently, neurologists classified the types of seizures, such as focal or generalized convulsive. The past few decades, research has leaned toward determining if the patient has an epileptic syndrome, or a specific type occurring under certain conditions. These conditions could include a particular clinical setting at a certain age with other accompanying findings like radiological tests and EEGs. Absence--or petit mal--seizures can illustrate the value of a syndrome approach.

Syndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems observed by the patient) recognizable by a doctor's exam. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered "diagnostic." Conversely, because someone may display some of the signs and symptoms of a syndrome, does not necessarily mean they have it.

HELLP Syndrome occurs in 4 percent to 12 percent of the women who have preeclampsia. It is one of the most severe forms of preeclampsia. HELLP stands for: hemolysis, elevated liver enzymes, and lowered platelets. HELLP Syndrome most often affects the liver, causing stomach and right shoulder pain. HELLP Syndrome is most dangerous because it can occur before you exhibit the classic symptoms of preeclampsia. It is often mistaken for the flu or gallbladder problems.

Only 3 to 5% of cases are inherited; the rest arise as an accident of chromosome arrangement during meiosis. For details, see my essay on the origin of trisomy 21 or Dr. Paul Benke's essay on the types of DS, and the risk and recurrence risk of DS. No. Down syndrome occurs at conception, so nothing in the pregnancy can cause Down syndrome to occur. As for prior to conception, the research all shows that drug or alcohol use does not increase the risk of having a child with DS.

Tourette Syndrome TS) is a neurological disorder characterized by tics -- involuntary, rapid, sudden movements or vocalizations that occur repeatedly in the same way.

Down's Syndrome is a genetic condition caused by extra genetic material (genes) from the 21st chromosome. The extra genes cause certain characteristics that we know as Down's syndrome. Individuals with Down's Syndrome also have all the other genes given to them by their parents. As a result, they have a combination of features typical of Down's Syndrome on top of the individual features from their parents.

The long QT syndrome (LQTS) is causing an abnormality of the heart's electrical system. The mechanical function of the heart is entirely normal. The electrical problem is due to defects in heart muscle cell structures called ion channels. These electrical defects predispose affected persons to a very fast heart rhythm (arrhythmia) called "Torsade de Pointes" (TdP) which leads to sudden loss of consciousness (syncope) and may cause sudden cardiac death.

The diagnosis is commonly suspected or made from the electrocardiogram (ECG). All children and young adults should have an ECG as part of their evaluation for an unexplained loss of consciousness episode. On the other hand, there is the possibility to check blood samples for known gene mutations that cause LQTS.