Mytonia Congenita- This is characterized by inability to relax after muscles contract. Symptoms are stiffness, sudden activity, and difficulty walking, chewing, grasping, and swallowing. Treatments are meds, exercise, and therapy.

Neurofibromatosis-this is a genetic disorder that causes tumors to grow on nerve tissue. This causes problems with bone and skin tissue. There are two types: NF1 and NF2. NF1 is more common. Sometimes signs of the disorder appear during childhood. Symptoms include cosmetic disfigurment, hearing problems, and light brown spots. In most kids, it is mild, but it can sometimes be severe. Usually the tumors are not cancerous, but they might become cancerous. Sometimes the disorder results because of a mutation of the genes. Thin or chubby limbs, scoliosis, and balance problems can all result from NF. Sometimes the disorder isn't diagnosed until the child is in their late teens. The only treatment is to have the tumors removed for cosmetic purposes.

Neuroleptic Malignant Syndrome- Life threatning disease caused by adverse reaction to neuroleptic drugs. Symptoms are fever, sweating, stupor, rigid muscles, high blood pressure, and autonomic dysfunction. Treatment includes doctors and meds, but intensive care is required in most cases.

Noonan Syndrome-Noonan Syndrome is a genetic disability occurring about once in every 1000-2500 births.Symptoms include facial abnormalities, skeletal deformity, bleeding disorder, and short stature. Many with the rare syndrome are under 5 ft tall. People with NS have eye problems, and males with the disorder have undescended testicles, also called cryptorchidism. "Normal intelligence" is expected, but a small percentage have Special Ed needs and retardation. The prognosis projects the opportunity for people with NS to lead healthy and successful lives.

Obsessive Compulsive Disorder- This is a disease where a person's brain is different in the way it handles worrying and problems. Kids with OCD may have to have things the exact same way every day or worry obsessively about something such as germs. Kids with OCD often do not let their obsessions go. They repeat them again. Common OCD obsessions are things being even/straight, avoiding illness and injury, death, being clean, checking things over and over, or avoiding unlucky numbers. OCD medicine and behavior therapies can treat it.

Osgood-Schlatter Disease- Disease caused by the overuse of the knee, or patella. It can cause inflammation from the knee down into the tibia. OSD sufferers often feel pain after exercise. OSD usually occurs during a guy or girl's growth spurt before puberty. OSD may, in severe cases, require casts & crutches, or canes.

Osteogenesis Imperfecta (Brittle Bones)-This is actually a group of disorders. It is caused by differences in the protein structure of a child's bones, which makes the bones break much more easily than normal. It can range from very mild to very severe. The more severe cases seem to occur out of the blue, without the condition in either of the parents, while the more mild cases seem to be genetic. Some people with OI have only about 10-20 bone fractures in their lifetime, while some may have more than 100. There is really no clear-cut treatment for brittle bones. However, a surgery called rodding is often considered. Rodding is where metal rods are inserted into a long bone, such as the femur. This is to control the fracturing of the bone.

Pallister-Killian Mosaic Syndrome-This is a rare chromosome disorder. Symptoms are coarse face, fold of skin over the inner part of eyes, broad nasal bridge & high forehead. Lobes are usually enlarged. Other things present are heart problems, loss of hearing, speech delays, hernias, and seizures. The child usually is mentally retarded, with cognitive delays, cataracts, failure to thrive, sparse hair/eyebrow growth and low muscle tone. The skin is discolored in areas, with accessory nipples. Gastrointestinal reflux appears in the first six months. There is a variety of craniofacial problems. It is mostly common in the United States, affecting about 50% males and 50% females. Death can occur.

Parkinson's Disease- This is a disability of the central nervous system. It happens when a nerve bundle called the basal ganglia is damaged. The basal ganglia helps you control the way you move. The body does not distribute dopamine, a chemical vital for movement, well. It is progressive, and causes you to have trouble swallowing, talking, or smiling. The affected person has impaired balance and experiences tremors or trembles. Surgeries, medicine, and visits to neurologists are treatments.

Parry-Romberg- Symptoms include facial atrophy, spreading to tongue, mouth, ears, and neck. Includes facial pain, seizures, and retinal problems. The bones in the face may deteriorate. Reconstructive surgery may be needed.

Peronial Muscular Atrophy(Char-Marie-Tooth Disease)- a group of neurological genetic disorders, affecting hands, arms, and legs. It is caused by an abnormal gene in Chromosome 17. Symptoms include slowed reflexes, loss of sensation, diminishing calf muscles, spinal curving, tremors, and in severe cases, loss of walking ability and unnoticed injury. There is no cure, but it can be screened for and tested through blood. Supportive treatments are available!!

Phenylketonuria (PKU)-PKU is a disability caused by the inefficiency of an enzyme that breaks down the amino acid phenylalanine. Amino acids are the building blocks of proteins, and this amino acid is gained from food. Due to the inefficiency of the enzyme, phenylalanine accumulates in the blood. This causes brain damage and mental retardation. It is inherited in a recessive pattern, which means that the child must have two genes carrying PKU in order to have the disorder. However, almost all babies born now are tested for PKU with a routine blood sample from the heel. If PKU is detected early enough, the child is placed on a special diet with only limited amounts of phenylalanine, and mental retardation can be avoided. The diet must be continued throughout the child's entire life. Pregnant women who have PKU and have discontinued the diet MUST resume the diet at least 3 months prior to pregnancy, and continue it throughout the pregnancy. Otherwise, the child has a very high risk of brain damage and mental retardation. Since these children do not have PKU, but are suffering effects from the mother's PKU, the normal PKU diet is ineffective in this case.

Phocomelia Syndrome-Phocomelia is extremely rare. It occurs from birth, and symptoms include missing limbs and shortened limbs. Limbs can be attached to the torso by short stumps that resemble seal flippers. There are some famous people with phocomelia, such as the British artist Allison Lapper. I don't have much info on phocomelia at the moment, but I will add info if I find more. I once knew a very special kid who apparently had phocomelia. Go to www.freewebs.com/daretodreamgirl to read about it.

Pica- Pica is a disability that often occurs with another disability, such as autism. It causes the person to crave nonfood items and sometimes eat them. Most small children enjoy exploring, but Pica sufferers explore way more. Some items they consume are clay, glue, baking soda, hair, buttons, paint chips, cigarette ashes, and soap. Pica can cause serious deficiences, and lead poisoining, but is treatable.

Polio-We've all heard of the polio virus..but some people may not know what polio actually is. Poliomyelitis is a contagious disease. Historically, polio outbreaks devestated the world in the 1900s. There are three types: Abortive polio is a milder form causing diarrhea, fever, and sore throat. Most people with AP do not even know they have it. Non-paralytic polio causes neck stiffness, sensitivity to light, and neurological symptoms. Paralytic polio is the most debilitating form. It can cause difficulty breathing, paralysis of the arms and legs or death when the virus attacks the nerves. Many children with paralytic polio became dependent on crutches. The acute illness is about 2 weeks long, but many people have life long effects(see post-polio). Dr. Jonas Salk discovered the oral polio vaccine in the 1960s. Polio has been basically erradicated as a result. It is very important to vaccinate a baby.

Post-Polio Syndrome-PPS affects people years after they were struck by the virus. Survivors may discover new weakening of once-affected muscles. Symptoms include progressive weakness, difficulty breathing, muscle atrophy(rare cases) and rarely, visible muscle wasting. PPS is not usually fatal, but lack of care can be fatal. PPS causes fatigue, and orthopedic problems such as shoulder pain. It is important to regularly visit a doctor. Some possible approaches are surgery, MRI, or leg braces.

Proteus Syndrome-this is a disability characterized by deformed limbs (asymmetry and overgrowth). Other symptoms include increased size (hypertrophy) of the body, bones, or organs. The skin can be rough and raised (verrucous epidermal naevi). There also can be overgrowth of soft tissue on the soles of the feet. Other symptoms are patches of overgrown blood/lymphatic vessels(vascular malformations), and an overgrowth or undergrowth of fat. Tumors may be more common in people with Proteus Syndrome. But the most dangerous characterization of Proteus Syndrome is blood clots lodging themselves in the lungs. This obviously makes it hard to breathe, and can result in eventual death.

Proximal Femoral Focal Deficiency (PFFD): This is an extremely rare genetic disorder that affects the pelvis and the thighbone. This results in a deformed hip and a shortened leg. This can occur on one side or both. Other birth defects usually accompany this disorder, such as absence of the thigh bone, a missing kneecap, and a malformed foot. With the aid of prosthetics, people with PFFD can lead a healthy, normal life.

Psoriasis- This is a skin disorder causing patches of itchy red "scales." It can have different levels of severity, and can occur in adults & children. The condition can cause joint inflammation, pain, nail damage, and discomfort, but a dermatologist can treat psoriasis with medication. Other treatments include moisturizers, soaps, and creams.

Rett Syndrome-this is a neurological disorder. It almost always occurs in girls, even though it is known it can occur in boys. There is a period of normal growth until about 6-18 months old, then symptoms like loss of speech and use of the hands. Other symptoms include problems with walking, and a small head. Apraxia (inability to do motor functions) is "the most handicapping aspect of Rett Syndrome". This can cause problems with everything the girl with RS does, including eye contact, speech, and gait. The cause of Rett Sydnrome appears to be a genetic mutation. Complications from Rett Syndrome include breathing problems, scoliosis, and seizures.

Rickets- This is a disability caused by a Vitamin D deficiency and leads to growth problems. The bones become soft and bendy. Kids who are rarely in the sun are at risk. Mothers who feed their babies breast milk are more likely to prevent Rickets.

Sandhoff Disease-this is a rare disability caused by mutations in the HEXB gene, which breaks down compounds in cells.  This process is disrupted in Sandhoff Disease, resulting in toxic compounds building in cells.  As a result, symptoms similar to Tay-Sachs Disease appear: loss of motor control, speech problems, and mental retardation, to name a few.  The most common form of Sandhoff Disease occurs in infancy.  At about 3-6 months, the infant starts having problems crawling, turning over, and sitting.  As the disability progresses, other symptoms, such as seizures, loss of hearing and vision, paralysis, and mental retardation appear.  Some children with Sandhoff Disease also have bone abnormalities and enlarged organs.  A common characteristic of Sandhoff Disease in children is a "cherry-red spot" in the eye.  This can be detected with an eye examination.  Children with Sandhoff Disease usually die by age 3.  There are also rarer forms of the disability that can occur in childhood, adolescence, or adulthood.  The symptoms are similar to the childhood form of the disability, and may include loss of muscle coordination and mental illness.

SARS(Severe Acute Respiratory Syndrome)- This is a lung disease that can cause severe impairment or death due to serious breathing difficulty. Fever, cough, and flu, are some symptoms. It is believed to have started in China and other parts of Asia. It is spread by contact with a SARS patient. Slip-on face masks are used to prevent infection.

Scleroderma-Scleroderma (sklere-o-DER-muh) is a rare, progressive disease that leads to hardening and tightening of the skin and connective tissues — the fibers that provide the framework and support for your body. Scleroderma usually starts with a few dry patches of skin on the hands or face that begin getting thicker and harder. These patches then spread to other areas of the skin. In fact, scleroderma literally means "hard skin." In some cases, scleroderma also affects the blood vessels and internal organs. Scleroderma is one of a group of arthritic conditions called connective tissue disorders. In these disorders, a person's antibodies are directed against his or her own tissues. If you are diagnosed as having scleroderma, the goal of your treatment plan will be to bring the symptoms and disease under control. Treatment plans are based on the type and severity of symptoms, and are individualized to meet each person's needs.

Schizophrenia- Schizophrenia is a mental disability that causes people to believe that they hear voices in their head, or that others are controlling their thoughts. Many Schizophrenia sufferers are fearful and worried often. Their behavior is disorganized. Schizophrenia is rare in young children, and most cases emerge during adolescence. Schizophrenics have trouble expressing feelings Most take meds to control the disability.

Scoliosis-Scoliosis comes from a greek word meaning crooked. People with scoliosis backs curve like an s or a c . Someitmes scolisocic is noticable becuase people's body tilts to the left or the right. That is not always why people tilt though some times one of their legs is shoter than the other. Scolisis is common because 3 out of every 100 people have it (about) . An orthopedist will take x-rays and see how severe your curve is. Some one with a slight curve will most likely need regular check-ups and some one with a severe curve might have to wear a brace or have an operation.

Seasonal Affective Disorder- depression that shows up in winter & is relieved during summer. It is caused by chemical irregularity in the brain that controls mood & sleep cycle. Symptoms are appetite loss, mood change, low energy, lack of enjoyment, changes in eating/ sleep, and less socialization. People with SAD cannot concentrate. It is affected by the seasons, weather, and light exposure, as well as the length of daylight hours. It is treated with increased light exposure, light therapy, talk therapy & medicine. It is recommended that you eat right, exercise, socialize, seek homework help, develop sleep routines, and follow a doctor's advice. Educate others about SAD and they can help you.

Septo-Optic Dysplasia/De Morsier Syndrome-This is mainly a disability of the optic nerve. For an unknown reason, the optic nerve is too small for light to pass through to the brain. Thus, the child has decreased or no vision. Other symptoms are possible jaundice (yellowed skin), and stunted growth because of the involvement of the pituatary hormone. The child may be mentally retarded. Diabetes insipidus (characterized by extreme thirst and diluted urine) also may be present. This is a very rare disorder.

Severe Combined Immunodeficiency- SCID is a group of genetic disorders characterized by lack of immune response. The child is missing lymphocytes, a specialized white blood cell. The immune system is incomplete, or deficient. Diagnosis involves blood testing. Symptoms are inability to fight viruses, bacteria, and fungi. Early signs are eight or more ear infections, no response to antibiotics, need to be medicated intravenously, deep seated infections(phenomena that affects a whole lung, liver abscesses), oral thrush, sinus infections, and chronic diarrhea. If SCID is not treated, death occurs at age 1. Treatments are stem cell transplants, immunologist appointments, face masks, and immediate medical attention at any sign of sickness.

Shaken Baby Syndrome- Shaken Baby Syndrome is a condition caused mainly by child abuse head injuries. When parents get frustrated with an infant, they may shake them. This can cause the brain to move in the skull, and rupture blood vessels. SBS can cause blindness, hearing loss, seizures, learning problems, or paralysis.

Sickle Cell Anemia- Sickle Cell Anemia is a blood disease. Instead of the usual shape(round), blood cells are sickle shaped. Because of their shape, sickle cells do not flow well, and can cause clogging in the blood vessels. This can cause decreased appetite, slowed growth, anemia, or not enough red blood cells. It can also cause jaundice, or a yellowish tint in the eyes, swelled fingers and toes, and increased bowel movements and urination. A person infected may take pain medication, or get blood transfusions. Healthy diets are crucial for people with SCA. It is genetic, and occurs because of a sickle cell passed from parent to child before birth.

Sirenomelia-this is a very rare congenital disorder. It is caused by a problem with the aorta (the biggest artery in the body, located in the leg). Children with sirenomelia look sort of "mermaidish" with floppy low ears and the characteristic "fins" the legs joined together. There can be surgery to separate the legs, but it is very risky. Sirenomelia is usually lethal within the first couple days of life because of problems with the kidneys and bladder. There are only two survivors of this condition.

Smith-Magenis Syndrome-This is a rare genetic disorder caused by the deletion of Chromosome 17. Characteristics include, but are not limited to: varying degrees of mental retardation, a short, wide head, a protruding jaw, short stature, short fingers/toes, low muscle tone, speech delays, sleep disturbances, behavioral problems and autistic tendencies. Many have trouble with sequential tasks, which can make math difficult. Many also are visual learners and learn best when they can see the information in a picture or schedule. They also do better in smaller settings.

Spina Bifida- Spina Bifida is a disability in which a baby's spine does not develop right while it's still in the womb. The baby is born with a hole or opening in the spinal cord. A healthy spine is closed to protect nerves. Children with this damage may not be able to deliver "messages" or electic impulses to the spine telling muscles to work. This can result in paralysis. Kids with spina bifida may also have hydrocephalus or too much fluid in the brain. A shunt can be inserted to drain it. Learning problems may occur, but most SB kids are intelligent to a normal level. People with SB may lack control in the bladder or bowels.

Spinal Stenosis-Spinal Stenosis (or Lumbar Spinal Stenosis)is a narrowing of the spinal cord. It usually presents itself along with another condition, such as arthritis. It can also be caused by injuries, too much flouride in the body, tumors on the spine, or calcium deposits on the ligaments that run along the spine (ligaments connect bone to bone). It can also be caused by inherited factors, such as scoliosis, or being born with a small spinal canal. Symptoms include pain in the neck or back, numbness, weakness or cramping in the legs, pain going down the leg, or other foot problems. Cauda Equine Syndrome, a form of spinal stenosis, occurs when there is pressure on the nerves in the lower back. Symptoms of CES include loss of bladder or bowel control, and pain, weakness, or loss of feeling in one or both legs. Treatments include a back brace, physical therapy, and possibly surgery.

Startle Reflex- A startle reflex is a hyperactive reflex, often accompanying another condition. This causes the person to be more sensitive to noise, and in response, may "jump" or have a sudden body movement.

Stuttering- This is a speech disorder. It causes people to suffer disfluency, or interruption in the flow of speech. Muscles in the mouth have trouble saying sounds properly. Stuttering can be treated with speech therapy.

Sudden Infant Death Syndrome- This frightening syndrome claims 2500 babies under 1 year old each year. There is no known cause & no signs of suffering. SIDS, nicknamed crib death, may have risk factors. A baby can be perfectly healthy & be found dead suddenly due to SIDS. Risks are poor prenatal care, smoke exposure as a fetus, stomach sleeping, teen mothers, drugs, and alcohol. Also, overheating in bed can cause SIDS. You should try & prevent these risks, so babies will not be struck with the tragedy of SIDS.

Tay-Sachs Disease- This is when a baby is missing the enzyme Hexosaminidase, causing fatty protein to collect in the brain. This affects sight, hearing, and movement. The child will stop smiling, crawling, and rolling, and will have low mental ability. A seizure disorder might occur. The child may become completely disabled, and usually dies by age 5.

Tenosynovitis-A muscle problem caused by overuse of the muscle. It causes the muscle to become inflammed on the sheath. The area can become hot, stiff, and painful. The tenosynovitis may persist for weeks, but can be treated. It is most commonly seen in the wrist/hand. Suggested treatment is physical therapy or medication.

Tethered Spinal Cord Syndrome- Disease caused by tissue attachment to the spinal column. It is progressive; including neurological deterioration. Symptoms are hairy patches, foot deformities, lesions, weak legs, back pain, scoliosis, and incontinence. If left untreated, the person may lose control of bladder & bowel movements, and lose motor skills. Spinal fluid can cause cysts, and loss of movement. Surgery is recommended, and some neurological effects are not correctable, but a normal life expectancy is predicted. Note: TSCS is linked to improper fetal tube development, and spina bifida.

Treacher Collins Syndrome-Treacher Collins Syndrome is a disorder that affects the features of the head and face.  Symptoms include down-slanting eyes, a small and slanting lower jaw, notched lower eyelids, underdeveloped or malformed ears, and underdevelopment or absence of cheekbones and underdevelopment of the eye socket.  Its cause is probably a change in the gene on Chromosome #5.  Other problems associated with Treacher Collins are: breathing problems and/or eating problems, abnormally small or no thumbs, dry eyes (which can lead to infection), and hearing problems due to abnormalities of the outer and middle ear.  Many children with Treacher Collins have a cleft palate.  Many children will require surgery to correct the deformities in the face.  If you have Treacher Collins, there is a 50% percent chance of passing it on to your children.  Most children with Treacher Collins have average to above average intelligence.

Trisomy 9 Mosaic-this is just one in a group of chromosomal disorders. In Trisomy 9 Mosaic, there are three #9 chromosomes in only some of the cells. Symptoms depends on the number of cells with the extra chromosome, but some common ones include growth deficiency, heart defects, and mental retardation. There is also some facial differences, such as a sloping forehead, malformed ears, a bulbous nose, and deeply set eyes. Musculoskeletal and kidney problems are also common. Trisomy 9 Mosaic is extremely rare.

Tuberous Sclerosis- A rare multisystem disorder that is characterized by the growth of benign tumors on vital organs. It is a genetic disorder, that can be inherited but most often is a spontaneous mutation. There are many forms and each is unique, but some symptoms include inability to respond, talk or walk, cysts, polyps, anemia, low blood pressure, whitish skin patches, raised facial bumps, tumors, skin tags, and thick leathery skin on the neck. Behavioral disabilities, ADHD, or mental retardation may appear. Vital organ infections can cause organ failure. In some cases, autism accompanies TSC. One of the most dangerous aspects of TSC is seizure disorders. Some epilepsy with TSC is so severe it cannot be controlled, causing up to 50 seizures per day. Severe TSC may cause death, but most cases are treatable. Treatments are medication, therapy, surgery, or Special Ed classes. TSC should be monitored by an experienced clinician. Look on a medical website or talk to a medical professional for more info.

Turner Syndrome-Disease when a girl is missing part of the X chromosome. It causes growth problems, incomplete sexual development, webbed neck, diabetes, cataracts, and an unusual number of moles. They also may have droopy eyelids or unusual hand growth. There is no cure, but treatment is available.

Williams Syndrome- Genetic disorder where symptoms include learning problems, retardation, severe anxiety, and life threatning vascular disease. Others include short stature, curved spine, limited mobility, diabetes, abdominal pain, weak vocabulary, different facial features, puffy eyes, small chin, wide mouth, and hearing loss. There is no standard treatment, but WS should be monitored. Note that people with WS are 50% likely to pass it on to their children.