what is Fragile X Syndrome?
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Fragile X is a serious genetic disorder.  It is caused by mutation of the X chromosome.  The outcome can be significant and debilitating.  It can affect males and females differently.  Males may have enlarged ears, large testicles, long face, and skeletal problems.  This is along with hearing loss, speech issues, and ADD issues as well.  Both will have cognitive delays.  Women have similar physical issues as the men, but usually not as severe.
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FMS (fibromyalgia syndrome) is a widespread musculoskeletal pain and fatigue disorder for which the cause is still unknown. Fibromyalgia means pain in the muscles, ligaments, and tendons – the soft fibrous tissues in the body.\n\nMost patients with FMS say that they ache all over. Their muscles may feel like they have been pulled or overworked. Sometimes the muscles twitch and at other times they burn. More women than men are afflicted with FMS, and it shows up in people of all ages.\n\nTo help your family and friends relate to your condition, have them think back to the last time they had a bad flu. Every muscle in their body shouted out in pain. In addition, they felt devoid of energy as though someone had unplugged their power supply. While the severity of symptoms fluctuate from person to person, FMS may resemble a post-viral state. This similarity is the reason experts in the field of FMS and chronic fatigue syndrome (CFS) believe that these two syndromes may be one and the same. Gulf War syndrome also overlaps with FMS/CFS.\n\n(Back to top)\n\nSYMPTOMS AND ASSOCIATED SYNDROMES\n\nPain - The pain of FMS has no boundaries. People describe the pain as deep muscular aching, throbbing, shooting, and stabbing. Intense burning may also be present. Quite often, the pain and stiffness are worse in the morning and you may hurt more in muscle groups that are used repetitively.\n\nFatigue - This symptom can be mild in some patients and yet incapacitating in others. The fatigue has been described as "brain fatigue" in which patients feel totally drained of energy. Many patients depict this situation by saying that they feel as though their arms and legs are tied to concrete blocks, and they have difficulty concentrating, e.g., brain fog.\n\nSleep disorder - Most FMS patients have an associated sleep disorder called the alpha-EEG anomaly. This condition was uncovered in a sleep lab with the aid of a machine which recorded the brain waves of patients during sleep. Researchers found that most FMS patients could fall asleep without much trouble, but their deep level (or stage 4) sleep was constantly interrupted by bursts of awake-like brain activity. Patients appeared to spend the night with one foot in sleep and the other one out of it.\n\nSleep lab tests may not be necessary to determine if you have disturbed sleep. If you wake up feeling as though you've just been run over by a Mack truck – what doctors refer to as unrefreshing sleep – it is reasonable for your physician to assume that you have a sleep disorder. Many FMS patients have been found to have other sleep disorders in addition to the alpha-EEG, such as sleep apnea (as well as the newly discovered form of interrupted breathing called upper airway resistance syndrome, or UARS), bruxism (teeth grinding), periodic limb movement during sleep (jerking of arms and legs), and restless legs syndrome (difficulty sitting still in the evenings).\n\nIrritable Bowel Syndrome - Constipation, diarrhea, frequent abdominal pain, abdominal gas, and nausea represent symptoms frequently found in roughly 40 to 70% of FMS patients. Acid reflux or gastroesophogeal reflux disease (GRED) also occurs with the same high frequency.\n\nChronic headaches - Recurrent migraine or tension-type headaches are seen in about 70% of FMS patients and can pose a major problem in coping for this patient group.\n\nTemporomandibular Joint Dysfunction Syndrome - This syndrome, sometimes referred to as TMJ or TMD, causes tremendous jaw-related face and head pain in one quarter of FMS patients. However, a 1997 published report indicated that close to 75% of FMS patients have a varying degree of jaw discomfort. Typically, the problems are related to the muscles and ligaments surrounding the jaw joint and not necessarily the joint itself.\n\nOther common symptoms - Premenstrual syndrome and painful periods, chest pain, morning stiffness, cognitive or memory impairment, numbness and tingling sensations,
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Asperger syndrome (sometimes called Asperger's syndrome, AS, or the more common shorthand Asperger's), is characterized as one of the five pervasive developmental disorders, and is commonly referred to as a form of high-functioning autism. In very broad terms, individuals with Asperger's have normal or above average intellectual capacity, and atypical or less well developed social skills, often with emotional/social development or integration happening later than usual as a result.\n\nThe term "Asperger's syndrome" was coined by Lorna Wing in a 1981 medical paper. She named the syndrome after Hans Asperger, an Austrian psychiatrist and pediatrician who himself had used the term autistic psychopathy.
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The syndrome Attention Deficit Disorder (ADD) or Attention Deficit Hyperactivity Disorder (ADHD) defies a concrete definition. There are no blood tests, brain scans, or psychological tests that definitively diagnose it.  However, in the United States, ADD/ADHD is the most diagnosed childhood psychological disorder. Not all Attention Deficit Disorders display the same exact symptoms.  There are many combinations of cognitive and behavioral problems that may exist.  Symptoms of this syndrome may include: Poor impulse control and internal self-monitoring, attention inconsistencies, chronic procrastination, the need for instant gratification, poor organizational skills, hyperactivity and hypoactivity, poor peer relationships, poor concept of time, and the need for highly stimulating activities.\n\nADD/ADHD is not an imaginary disorder.  It is a chronic developmental disorder which is genetically based.  It is not a learning disability, but can coexist with learning disabilities in approximately 25 to 33 percent of those diagnosed with ADD/ADHD.  ADD/ADHD places people at risk of everything from school failure to drug abuse. \n\nEven though the syndrome Attention Deficit Disorder (ADD) or Attention Deficit Hyperactivity Disorder (ADHD) defies a concrete definition, people should not be left to flounder with their difficulties when there are treatments available that will help.  Failure to treat ADHD carries significant risks whose lifelong consequences are well known.
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Autism disorder is one of many disorders in a group called the Pervasive Development Disorders also known as the Autistism Spectrum Disorders.  Autism is the most severe of the disorders on the spectrum.\n\nThere are tons of books and information on the subject; here is a link to a good overview: http://www.nimh.nih.gov/publicat/autism.cfm
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There are some genetically related disorders including: \nHypochondroplasia \nFGFR-related craniosynostosis \nThanatophoric dysplasia \nSADDAN dysplasia=Severe achondroplasia
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Asperger's Syndrome is a condition similar to autism, and may be characterized by: \n\n- "peer relationships characterized by absolute loyalty and impeccable dependability," \n\n- "seeking an audience or friends capable of: enthusiasm for unique interests and topics," \n\n- "consideration of details; spending time discussing a topic that may not be of primary interest," \n\n- "interested primarily in significant contributions to conversation; preferring to avoid 'ritualistic small talk' or socially trivial statements and superficial conversation," \n\n- "seeking sincere, positive, genuine friends with an unassuming sense of humor," \n\n- "advanced vocabulary and interest in words," \n\n- "strong preference for detail over gestalt," \n\n- "exceptional memory and/or recall of details ... for example: names, dates, schedules, routines," \n\n- "avid perseverance in gathering and cataloging information on a topic of interest," \n\n- "focused desire to maintain order and accuracy," \n\n- "clarity of values/decision making unaltered by political or financial factors," \n\n- "acute sensitivity to specific sensory experiences and stimuli, for example: hearing, touch, vision, and/or smell," \n\nand \n\n- "strength in individual sports and games, particularly those involving endurance or visual accuracy, including rowing, swimming, bowling, chess."
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This should keep you busy for hours.....\nhttp://en.wikipedia.org/wiki/List_of_genetic_disorders
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Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X, is the most common. It occurs in 1 out of every 2,500 female births. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional. This is called 45,X or 45,X0, although other genetic variants occur. In Turner syndrome, female sexual characteristics are present but underdeveloped.\nclick here:http://en.wikipedia.org/wiki/Turner_syndrome#Symptoms
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(I just wrote you a book and then erased it) \n         Functionally is mild to moderate retardation. Are you wondering because you want to know what to expect or is there a better way of meeting his needs? How many developmental evaluations has he had? When was the most recent? \n        Developmenyal Delay is a blanket term for young children. That diagnosis  changes to mild , moderate, or severe Mental Retardation at a certain age. Functional means that he can function (severe children need tremendous help every day). Function to what degree, do you wonder?? I can tell you what I know.
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Hi, I think autism and sensory disorders (trouble with balance) are inherited because quite a few people in my family are just like the people you are talking about. It could very well be Asperger's Syndrome because both boys and girls can have this and they do include all the problems that you mentioned. However...Asperger's Syndrome has no facial changes. It could be a different syndrome closely related though...lots of genetic syndromes can have symptoms that are very closely related to autism. Some syndromes even include what is called autistic like behaviors. Have you ever thought of getting the family...all of them tested at a geneticist? Also it could be a metabolic problem so you could also have everyone tested with a specialist in metabolics. The tests are usually just a simple blood test...nothing scary or anything. Good Luck!
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Progeria -- a rare genetic disease that makes children age about eight times faster than normal. Only about a dozen children in the U.S. are afflicted by it and patients rarely survive past 13.\n\n\n:)
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It is a genetically inherited syndrome where abnormal antibodies are formed in the blood which predispose to clots forming in the blood vessels (thromboses). If that occurs treatment is usually life long with a medication to thin the blood to prevent clots, usually warfarin.
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You can learn something about it online.  Try starting here:\n\nhttp://en.wikipedia.org/wiki/Tourette_syndrome
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Do you mean cystic fibrosis?\n\nCystic fibrosis (CF), also called mucoviscidosis, is an autosomal, recessive, hereditary disease of the exocrine glands. It affects the lungs, sweat glands and the digestive system, causing chronic respiratory and digestive problems. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. It is the most common fatal autosomal recessive disease in Caucasians.
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Tourette syndrome is an inherited neurological disorder with onset in childhood, characterized by the presence of multiple motor tics and at least one phonic tic, which characteristically wax and wane.
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Marfan syndrome is a genetic connective tissue disorder characterized by unusually long limbs and fingers. The disease also affects other structures and organs — including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate — in less visible ways. It is named after Antoine Marfan, the French pediatrician who first described it in 1896.\n\nCause\nMarfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue. Marfan syndrome is also an example of a dominant negative mutation. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mice, and the study of mouse fibrillin synthesis and secretion, and connective tissue formation, has begun to further our understanding of Marfan syndrome in humans. For instance it has been found that simply reducing the level of normal fibrillin-1 causes the Marfan related disease in mice [1].\n\nMore recently, transforming growth factor β (TGFβ) has been shown to play an important role in Marfan syndrome. Fibrillin-1 binds TGFβ, inactivating it. In Marfan syndrome, reduced levels of fibrillin-1 allow TGFβ to damage the lungs and heart. New treatments for Marfan, using antagonists of TGFβ, are being investigated (Habashi et al., 2006 Science 312(5770):117-21).\n\nDiagnosis\nAlthough genetic testing is available, a diagnosis is usually made solely on clinical findings. A clinical diagnosis uses specific criteria that were established in 1996.[2]\n\n\nEpidemiology\nBecause Marfan syndrome is caused by an autosomal dominant genetic defect, each parent with the condition has a 50 percent chance of passing it on to a child. Most individuals with Marfan syndrome have another affected family member, but about 1/4 to 1/3 of all cases are due to de novo genetic mutations. Such spontaneous mutations occur in about 1 in 20,000 births. Estimates indicate that perhaps 1 in 5,000 people (0.02 percent of the population) have Marfan syndrome. It affects all races and both sexes equally.[3]\n\n\nSymptoms\nThe most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is cystic medial necrosis predisposing to dissecting aortic aneurysm.\n\nMarfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Sometimes the fingers have a long, thin, spidery appearance known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine (scoliosis) is a common problem, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptoms include; abnormal joint flexibility, high palates, small jaws, flat feet, stooped shoulders, unexplained stretch marks, and dislocation of the optic lens in the eye (ectopia lentis). Some people with Marfans have speech impediments as a result of the high palates and small jaws.\n\nNearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or displacement of the lens in one or both eyes.[4]\n\nDural ectasia is a major indicator of Marfan syndrome. It is a dilation of the dural sac surrounding the spinal cord.