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Disabilities Defined

Attention Deficit Disorder

ADHD is a diagnosis applied to children and adults who consistently display certain characteristic behaviors over a period of time. The most common core features include:

  • distractibility (poor sustained attention to tasks)
  • impulsivity (impaired impulse control and delay of gratification)
  • hyperactivity (excessive activity and physical restlessness)

In order to meet diagnostic criteria, these behaviors must be excessive, long-term, and pervasive. The behaviors must appear before age 7, and continue for at least 6 months. A crucial consideration is that the behaviors must create a real handicap in at least two areas of a person's life, such as school, home, work, or social settings. These criteria set ADHD apart from the "normal" distractibility and impulsive behavior of childhood, or the effects of the hectic and overstressed lifestyle prevalent in our society (National Attention Deficit Disorder Association).

AIDS/HIV

The Human Immunodeficiency Virus (HIV) is a deadly virus. Once you are infected with this virus you are sooner or later going to develop AIDS 'Aquired Immunodeficiency syndrome'. There is at present no cure for this disease. It is spread from one person to another via blood, semen, and vaginal fluids. Once you become infected, the virus attacks and gradually weakens your body's Immune System which is the defense mechanism against infections which our body is exposed at every minute of our life. Thus this reduced defense system of our body makes it possible for unusual diseases and cancers to take hold in our body. (National Minority AIDS Council).

Alagille Syndrome

A rare inherited liver disorder seen in infants and young children. The disease is characterized by a buildup of bile in the liver due to a deficiency or absence of normal bile ducts inside the liver and a narrowing of bile ducts outside the liver. Symptoms of the disorder can include jaundice, stunted growth, fatty deposits in the skin, facial deformities, and abnormalities in the heart, eyes, vertebrae, and kidneys.

Amputation

Angelman Syndrome

In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome (AS) (1). He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published (2-8) but the condition was considered to be extremely rare and many physicians doubted its existence (Angelman Syndrome Foundation)..

http://www.angelman.org/ 
Home page for the U.S. Angelman Syndrome Foundation and for many links to other AS web sites.

http://www.asclepius.com/iaso/ 
Home page for the International AS Organization and for other links

http://www.geneclinics.org 
Detailed information about medical and genetic aspects of AS. This site requires a simple log-in procedure but 
all individuals can access this site without charge.

http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?105830 
Contains detailed information and medical reference links about the genetic aspects of AS
Apert Syndrome

Apert syndrome is transmitted as an autosomal dominant trait (which means that only one parent needs to have the condition for a child to potentially be affected). Some cases also appear spontaneously without a family history. The condition is caused by mutations in a gene called fibroblast growth factor receptor 2. This mutation causes some of the bony sutures of the skull close prematurely (a process called craniosynostosis) which can cause asymmetric growth and give the head a distorted shape. The face is distinctive looking and there may be full-length webbing or fusion between the 2nd, 3rd and 4th fingers, as well as the toes. In addition, as the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function (Apert International).

Arthritis

Inflammation of one or more joints. In most cases, arthritis is progressive, resulting in muscular stiffness. Arthritis left untreated can lead to joint immobility, muscle atrophy and contractures. In the early stages, the small joints of the hands and feet are usually affected.

Arthrogryposis

Arthrogryposis translated from the Greek literally means "curved or hooked joints." Hence, this term is used to describe multiple joint contractures present at birth. There are many causes for congenital multiple joint contractures, and could be due to abnormal nerve or muscle development in the womb. However, the commonest form of arthrogryposis, present in 40% of cases, is a condition called amyoplasia.  The cause of arthrogryposis is varied, and not entirely understood. Certainly, in many cases, abnormal nerve, muscle and connective tissue development is involved. Lack of movement of intrauterine movement is also responsible, as in oligohydramnios. Genetic factors do play a part in many cases, as do environmental factors like drugs. The typical deformities are often severe and symmetrical, including: shoulder internal rotation, elbow extension and pronation, fingers in fixed flexion, knee flexion and clubfoot deformity.  In the typical child with amyoplasia, intelligence is normal, and sensation is intact.

Asperger Syndrome

Asperger Syndrome is classified as a Pervasive Developmental Disorder affecting two-way social interaction and verbal and non-verbal communication. Individuals with Asperger's syndrome typically demonstrate a reluctance to accept change, inflexibility of thought and have all-absorbing narrow areas of interest. Individuals usually have excellent extremely rote memory skills (facts, figures, dates, times etc.) and many excel in math and science. There is a range of severity of symptoms within the syndrome (Online Asperger Syndrome Information and Support).

Asthma

Asthma is a chronic inflammatory lung disease that causes difficulty breathing. When an asthma attack occurs, the bronchial tubes tighten and become swollen, and secretion of mucus in the narrowed airways increases. More than 17 million Americans are estimated to have asthma and over 5,300 deaths in the United States are attributed to the disease each year. Cases of asthma have risen about 75 percent since 1980, particularly among blacks and poor, inner-city populations. Asthma attacks can be triggered by a variety of factors including allergens, cold air, cigarette smoke, anxiety and exercise (Asthma News).

Autistic

Autistic disorder is defined as a presence of marked abnormal and impaired development in social interaction, communication and a markedly restricted repertoire of activity and interests. The autistic disorder must manifest itself before age 3. An autistic disorder adversely affects an individual's performance. The term does not apply if an individual's educational performance is adversely affected primarily because the individual has a serious emotional disturbance Genetics of Autism).

Behcet’s Disease

Behcet’s disease is a rare, chronic inflammatory disorder. The cause of Behcet’s disease is unknown, although there have been reports of a virus found in some individuals with the disease. Behcet’s disease generally begins when individuals are in their 20s or 30s, although it can happen at any age. It tends to occur more often in men than in women. Symptoms of Behcet’s disease include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation. The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the membranes of the brain and spinal cord), and cranial nerve palsies. Behcet’s is a multi-system disease; it may involve all organs and affect the central nervous system, causing memory loss and impaired speech, balance, and movement.

Bloom Syndrome

            Bloom syndrome is an inherited disorder caused by a gene that does not function properly. A syndrome is a collection of characteristics that, when seen together in an individual, may signal a more complex underlying condition. Individuals with Bloom syndrome have short stature, a "narrow" face with a prominent nose, "patchy" skin color changes in the face becoming more noticeable after sunlight exposure, a high-pitched voice, an increased susceptibility to infections and respiratory illness, and an increased susceptibility to cancer and leukemia. Some individuals with Bloom syndrome also have mental retardation.  Bloom syndrome is called a "chromosome breakage" condition. This means that individuals with Bloom syndrome have an unusually high number of breaks along their chromosomes. Chromosomes are the structures in the cells of our body that contain our hereditary material, called DNA.  Males with Bloom syndrome are usually infertile, and some women with Bloom syndrome also have fertility problems.

Cardiac conditions

Congenital Heart Disease is considered to be the most common birth defect worldwide, and is the leading cause of birth defect related deaths. Despite these statistics, there have been few organized international resources dedicated to meeting the needs of the families and individuals affected by CHD. (Phillip’s Heartplace).

Cerebral Palsy

Cerebral Palsy (CP) is a non-progressive condition caused by damage to the brain, usually occurring before, during or shortly following birth. “Cerebral” refers to brain and “palsy” refers to a disorder of movement or posture.

Chotzen Syndrome

Saethre-Chotzen syndrome belongs to a group of rare genetic disorders known as "acrocephalosyndactyly" disorders. All are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly), and/or webbing or fusion (syndactyly) of certain fingers or toes (digits). Saethre-Chotzen syndrome is also known as acrocephalosyndactyly type III. Additional malformations of the skull and facial (craniofacial) region may also be present, such as widely spaced eyes (ocular hypertelorism) with unusually shallow eye cavities (orbits); drooping of the upper eyelids (ptosis); and abnormal deviation of one eye in relation to the other (strabismus). Some affected individuals may also have a "beaked" nose; deviation of the partition that separates the nostrils (deviated nasal septum); small, low-set, malformed ears; and an underdeveloped upper jaw (hypoplastic maxilla). The disorder is also associated with malformations of the hands and feet, such as partial fusion of soft tissues (cutaneous syndactyly) of certain fingers and toes (digits); unusually short digits (brachydactyly); and broad great toes. Although intelligence is usually normal, some affected individuals may have mild to moderate mental retardation. Saethre-Chotzen syndrome is usually inherited as an autosomal dominant trait.

Cohen Syndrome

Cohen syndrome is associated with"Obesity and hypotonia with delayed mental development, characteristic facies, and slender hands and feet. The syndrome is divided into two forms: one which is manifested by the symptoms as outlined by Cohen and the other characterized by chorioretinal dystrophy, leukopenia, and lack of obesity, known as the Norio syndrome. The syndrome is sometimes is referred to as the Pepper syndrome after the affected family. Mirhosseini-Holmes-Walton and Cohen syndrome share many common characteristics".(Cohen Syndrome Information Page Diseases Database).

Congenital Chorea

 Congenital Chorea, sometimes referred to as an hereditary nonprogressive chorea or benign familial chorea is a  rare disorder with an incidence of approximately one in 500,000 births (Robinson & Thornett, 1985).  The etiology of the syndrome appears to be traced to an autosomal dominance inheritance with incomplete penetrance resulting in very large satellites around one of the 13-15 chromosomes (Haerer, Currier & Jackson, 1967).  Students with Congenital Chorea typically experience motor delays before 10-years of age.  They have marked dishing of the outstretched hands, a mild milking grip, a pronator sign, normal intelligence, may suffer from intermittent facial grimaces, and chronic movements of the neck, trunk, or extremities (Sadjaadpour & Amato, 1973).

Cornelia de Lange Syndrome

The de Lange syndrome is a disorder of unknown biochemical and genetic basis that is recognized on the basis of characteristic facies (low anterior hairline, synophrys, anteverted nares, maxillary prognathism, long philtrum, 'carp' mouth) in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies (Facts About Cornelia de Lange Syndrome).

Cri-du Chat Syndrome

The cri-du chat syndrome is a contiguous gene syndrome that results from a deletion of the short arm of chromosome 5.  Patients present with a cat-like cry at birth, which is usually considered diagnostic of this syndrome.  Additional features of the syndrome include failure to thrive, microcephaly, hypertelorism, epicanthal folds, hypotonia, and severe mental retardation. 

Crouzon syndrome

Crouzon syndrome was described in 1912 as one of the varieties of craniofacial dysostosis caused by premature obliteration and ossification of two or more sutures, most often coronal and sagittal. Virchov introduced the term "craniostenosis." The type of craniostenosis is determined by the type of obliterated sutures. Oxycephaly, scaphocephaly, "wedge skull," and "oblique head" are differentiated. Crouzon syndrome with oxycephaly and Apert syndrome with oxycephaly and syndactylia (acrocephalosyndactyly) are the most common cases of dysostosis. Some authors connect those syndromes as one - Crouzon-Apert syndrome - but symptomatologic differentiation makes it difficult to classify the cases. Acanthosis nigricans is the main dermatological manifestation of Crouzon syndrome (Crouzon Syndrome Information).

CYSTIC FIBROSIS

Cystic Fibrosis (CF) is a congenital disease of the exocrine glands primarily affecting the gastrointestinal and respiratory systems. The lungs, pancreas, intestines, and sweat glands are the primary organs affected. Cystic Fibrosis is currently the most common fatal genetic disease in the United States. The median age of survival for a person with CF is 31 years. Cystic fibrosis affects approximately 30,000 children and young adults. It occurs in approximately one of every 3,300 live births.

Diabetes

Diabetes is a general term referring to a variety of disorders that are divided into two groups - diabetes mellitus and diabetes insipidus. DIabetes mellitus is a group of metabolic disorders resulting from insufficiency of insulin. The two most common types of diabetes mellitus are insulin dependent and non-insulin dependent diabetes. Diabetes insipidus results from an inability to concentrate urine in the kidneys. The two types of diabetes insipidus are pituitary and nephrogenic.

Insulin-dependent diabetes (Type I)

Type I diabetes is a condition in which the pancreas stops producing insulin and is usually diagnosed before 18 years of age. Insulin helps the body use carbohydrates. Students manage diabetes by taking insulin, eating regular nutritional meal and snacks, exercising regularly and monitoring blood sugars.

Non-insulin-dependent diabetes (Type II)

The onset of Type II diabetes is gradual and frequently does not occur until after 30 years of age. Insulin therapy is usually not necessary because individuals with this type of diabetes usually retain some insulin secretion capabilities. Obesity usually accompanies Type II diabetes.

Down syndrome

Down syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. It is caused by a chromosomal abnormality. For some unexplained reason, an accident in cell development results in 47 instead of the usual 46 chromosomes. This extra chromosome has an impact on psychomotor, cognitive, and language development. In most cases, the diagnosis of Down syndrome is made according to results from a chromosome test administered shortly after birth (Down Syndrome Association).

Duane syndrome

Duane syndrome (DS) is a rare, congenital (present from birth) eye movement disorder. Most patients are diagnosed by the age of 10 years and DS is more common in girls (60 percent of the cases) than boys (40 percent of the cases). DS is a miswiring of the eye muscles, causing some eye muscles to contract when they shouldn't and other eye muscles not to contract when they should. People with DS have a limited (and sometimes absent) ability to move the eye outward toward the ear (abduction) and, in most cases, a limited ability to move the eye inward toward the nose (adduction). Often, when the eye moves toward the nose, the eyeball also pulls into the socket (retraction), the eye opening narrows and, in some cases, the eye will move upward or downward. Many patients with DS develop a face turn to maintain binocular vision and compensate for improper turning of the eyes.

Dwarfism

The Little People of America (LPA) define dwarfism as an adult height of 4'10" or shorter, among both men and women, as the result of a medical or genetic condition.

Ehlers-Dalos Syndrome

Ehlers-Danlos Syndrome (A-lerz-DAN-los SIN-drome) describes a group of hereditary disorders which mainly affect the skin and joints, but may affect other organs. EDS affects the connective tissues -- the tissues that support various parts of the body such as skin, muscles, tendons and ligaments. In EDS, the fibrous protein collagen is faulty, causing the connective tissue to not be elastic or strong.  Skin problems, include fragile skin that bruises or tears; soft skin, and slow-healing wounds.  Joint problems, including loose, unstable joints; "double-jointed" or overextension of the joints; arthritis-like problems.

http://www.ednf.org/

Epilepsy

Epilepsy is a group of symptoms caused from abnormal electrical activity in the brain which results in seizures of varying magnitude.

F.D. Weber Syndrome

F.D. Weber Syndrome  is a congenital circulatory disorder characterized by hemiangiomas (abnormal benign growths on the skin consisting of masses of blood vessels), arteriovenous abscesses, and varicose veins, usually on the limbs. The affected limbs may be enlarged and warmer than normal. Fused toes or fingers, or extra toes or fingers, may be present. Bleeding may occur, often as a result of a rectal or vaginal tumor. The cause of the disorder is unknown. A similar port-wine stain disorder in which individuals have vascular anomalies and limb enlargement is Sturge-Weber syndrome. These patients may experience seizures and mental deficiency.

Fibromyalgia Syndrome

Fibromyalgia Syndrome is also known as "fibrositis". It is a chronic syndrome with a set of signs and symptoms that include widespread constant degrees of pain that affects the muscles and attachments to bones. It is often included in the family of arthritic conditions. Fibromyalgia affects an estimated 3.7 million Americans, mostly women. Its cause is unknown and it has no known cure. Most individuals get limited relief from medications

Fragile X Syndrome

Fragile X syndrome is the most common inherited cause of mental retardation. The full mutation appears in approximately 1 in 3600 males and 1 in 4000 to 6000 females (The National fragile X Foundation).

4P Minus Syndrome

4P Minus syndrome is due to a specific chromosomal deletion which is the cause of typical facial features and developmental delays. The anomalies are due to the lack of chromosomal material from the top of one of the number 4 chromosomes. This results in missing genes which account for the anomalies. The degree of deletions and scope of symptoms vary widely and reflect the amount of genetic material that is missing. Small head size (microcephaly), "Greek helmet like" nose shape , wide spaced eyes (hypertelorism), and mental retardation are symptoms shown.  Note that in some families the syndrome may be due to an inherited chromosomal abnormality.

Guillain-Barré Syndrome (GBS)

Guillain-Barré (ghee-yan bah-ray) Syndrome (GBS), also called acute inflammatory demyelinating polyneurapathy and Landry's ascending paralysis, is an inflammatory/immune disorder of the peripheral nerves - those outside the brain and spinal cord. Under ordinary circumstances, the cells of the immune system attack only foreign material and invading organisms. In GBS, however, the immune system starts to attack part of the peripheral nervous system. In particular, it is the myelin sheath, the insulating layer that covers the axons of many peripheral nerves, that is destroyed. The myelin sheath speeds up the transmission of nerve signals and allows the transmission of signals over long distances. In some cases of GBS, the immune system attacks the axons themselves.

Haemophilia A

Haemophilia A is a genetic disorder characterised by defficiency of Factor VIII in the blood. The factor VIII gene is located on the X chromosome . Thus this disorder is a sex linked disorder (The Haemophilia Society).

Hearing Impaired

“Deaf” means a hearing impairment which is so severe that the individual is impaired in processing linguistic information through hearing, without amplification, which adversely affects educational performance.

“Hard of Hearing” means a hearing impairment, whether permanent or fluctuating, which adversely affects an individual's educational performance but which is not included under the above definition of deaf.

Hunter’s Syndrome

Hunter syndrome, also known as mucopolysaccharidosis II, is a rare inborn error of metabolism characterized by deficiency of an enzyme known as iduronate sulfatase. The mucopolysaccharidoses (MPS) are a group of hereditary metabolic diseases known as lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, including Hunter syndrome, deficiency or improper functioning of lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (glycosaminoglycans [mucopolysaccharides]) in cells within various bodily tissues, such as the skeleton, joints, brain, spinal cord, heart, spleen, or liver.

Hurler Syndrome

Rare hereditary and congenital metabolical disease characterized by dwarfism, hunchback, coarse (gargoyle like) facies, mental retardation, clouding of the cornea and sensorineural deafness, hepatosplenomegaly, noisy respiration, cardiac abnormalities, and enlarged tongue. There is a protuberant abdomen, umbilical and inguinal hernias, coronary artery thickening, angina pectoris, decreased joint mobility and frequent chest infections.  Due to faulty degradation of dermatan and heparan sulphate with glycosaminoglycan storage in connective tissue caused by a-L-iduronidase deficiency. Heparitin sulphate and chondroitin sulphate B are excreted in the urine and anomalous granules are found in the lymphocytes and sometimes in the neutrophils.

Joubert Syndrome

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), jerky eye movements, mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes, cleft lip or palate, and tongue abnormalities. Seizures may also occur. Most cases of Joubert syndrome are sporadic (in other words, no other family member has the disorder), but in some families, Joubert syndrome appears to be inherited via a recessive gene.

Juvenile arthritis

Juvenile arthritis is a general term for all types of arthritis that occur in children. An estimated 285,000 children under age 17 are affected by juvenile arthritis, and juvenile rheumatoid arthritis (JRA) affects up to 50,000 children. Juvenile rheumatoid arthritis (JRA) is the most prevalent form of arthritis in children. There are three major types of JRA: pauciarticular, polyarticular and systemic. The signs and symptoms of JRA vary from child to child. The arthritis must be present consistently for six or more consecutive weeks before a diagnosis of JRA can be established. The type of arthritis is determined according to the symptoms experienced during the first six months of the disease. (Questions and Answers About JPA).

Klinefelter’s Syndrome

Males have one X-chromosome and one Y-chromosome.  Females have two X-chromosomes.  In Klinefelter's syndrome, the male gets an extra X-chromosome, and therefore has two X-chromosomes and one Y-chromosome.  There are some males born with a mosaic genetic, part XXY and part XY, which will lessen the degree to which the individual is affected.  Symptoms include long arms and legs, enlarged male breasts, small testicles, and infertility. 

Klippel-Feil Syndrome

Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.

Langer-giedion Syndrome

Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. Facial features include a bulbous nose with thickened septum and alae, wide prominent philtrum, thin upper lips, and small mandible. During first five years of life recurrent respiratory infections. One of the contiguous gene syndromes. Present from birth. Both sexes affected.

Larsen Syndrome

Larsen syndrome is a rare genetic disorder in which associated features may vary greatly in range and severity from case to case. However, primary features may include multiple joint dislocations; foot deformities; non-tapering, cylindrically shaped fingers; and/or an unusual facial appearance. In some cases, additional features may be present, such as short stature, additional skeletal abnormalities, incomplete closure of the roof of the mouth (cleft palate), heart defects, hearing impairment, mental retardation, and/or other abnormalities.

Learning Disorders

A learning disability is a disorder in one or more of the basic psychological processes involved in understanding or using language, spoken or written, which may manifest itself in the imperfect ability to listen, think, speak, write, spell, or perform mathematical calculations. The term includes such conditions as perceptual disabilities, minimal brain dysfunction, dyslexia, developmental aphasia, and attention deficit disorder.

Lupus

Lupus is a chronic, autoimmune disease which causes inflammation of various parts of the body, especially the skin, joints, blood and kidneys. The immune system loses its ability to tell the difference between foreign substances (antigens) and its own cells and tissues.

TYPES OF LUPUS

Discoid lupus: This type is limited to the skin. It is identified by a rash that may appear on the face, neck and scalp. It is diagnosed by examining a biopsy of the rash. Discoid lupus generally does not involve the body’s internal organs.

Systemic lupus: Systemic lupus is usually more severe than discoid lupus. Systemic lupus can affect almost any organ or system of the body. It is characterized by periods of remission that alternate with times when the disease flares.

Drug-induced lupus: This occurs after the use of certain prescribed drugs. The drugs most commonly connected with drug-induced lupus are hydralazine ( used to treat high blood pressure or hypertension ) and procainamide ( used to treat irregular heart rhythms ). Only about 4 percent of the people who take these drugs will develop the antibodies suggestive of lupus.

Maple Syrup Urine Disease

(MSUD) is an inherited metabolic disorder, that, if untreated, causes mental retardation, physical disabilities and death. First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births. MSUD derives its name from the sweet, burnt sugar, or maple syrup smell of the urine. The disorder affects the way the body metabolizes (processes) certain components of protein. These components are the three branched-chain amino acids leucine, isoleucine, and valine. These amino acids accumulate in the blood causing a toxic effect that interferes with brain functions (MSUD Family Support Group).

Marfan Syndrome

Marfan syndrome is a connective tissue disorder, so affects many structures, including the skeleton, lungs, eyes, heart and blood vessels. The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln.  Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 encodes a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue. Without the structural support provided by fibrillin, many tissues are weakened, which can have severe consequences, for example, ruptures in the walls of major arteries.

Melas Syndrome

MELAS syndrome is one of a group of rare muscular disorders that are called mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria) resulting in disease of the brain and muscles (encephalomyopathies). This mitochondrial defect and a condition known as "ragged red fibers" (an abnormality of muscle tissue when viewed under a microscope) are typically present. The most characteristic symptom of MELAS syndrome is recurring, stroke-like episodes in which sudden headaches are followed by vomiting and seizures. Short stature, an accumulation of lactic acid in the blood (lactic acidosis), and muscular weakness on one side of the body (hemiparesis) are typically present. Visual symptoms may include impaired vision or blindness in one half of the visual field (hemianopsia) and/or blindness due to lesions in the area of the brain concerned with vision (cortical blindness). Although the exact cause of MELAS syndrome is not fully understood, it has been found to run in families (familial).

Menkes Syndrome

            Menkes syndrome is an inborn error of metabolism that markedly decreases the cells' ability to absorb copper. The disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy. The disease can often be diagnosed by looking at a victim's hair, which appears to be both whitish and kinked when viewed under a microscope.  Menkes' disease is transmitted as an X-linked recessive trait. Sufferers can not transport copper, which is needed by enzymes involved in making bone, nerve and other structures. A number of other diseases, including type IX Ehlers-Danlos syndrome, may be the result of allelic mutations (i.e. mutations in the same gene, but having slightly different symptoms) and it is hoped that research into these diseases may prove useful in fighting Menkes' disease.

Mental Disorders

The Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) definition is a clinically significant behavioral or psychological syndrome or pattern that occurs in an individual and that is associated with present distress (i.e., a painful symptom) or disability (i.e., an impairment in one or more important areas of functioning) or with a significantly increased risk of suffering death, pain, disability, or an important loss of freedom. The syndrome or pattern must not be merely an expectable and culturally sanctioned response to a particular event. It must currently be considered a manifestation of a behavioral, psychological, or biological dysfunction in the individual. No definition adequately specifies precise boundaries for the concept of mental disorder. Also known as mental health, mental impairment, mental illness, brain illness, and serious brain disorder (DSM-IV, 1994; p. xxi).

Mental Retardation

Mental Retardation (MR) is defined by the American Association on Mental Retardation (AAMR) by the following three criteria: intellectual functioning level (IQ) is below 70-75; significant limitations exist in two or more adaptive skill areas; and the condition manifests before the age of 18. Adaptive skill areas are those daily living skills needed to live, work, and play in the community. The new definition includes ten adaptive skills: communication, self-care, home living, social skills, leisure, health and safety, self-direction, functional academics, community use, and work.

Multiple Sclerosis

Multiple Sclerosis is a progressive neurological disease of the central nervous system. In multiple sclerosis, segments of the myelin sheath covering the nerves disintegrate and are replaced by scar tissue. This consequently distorts or prevents the nerve impulses that dictate muscle control. MS involves onsets of 'attacks' and subsequent remission. Most people with MS are diagnosed between the ages of 20 and 40.

Neurofibromatosis

The neurofibromatoses (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities(National NF Association).

Noonan Syndrome

A complex familial syndrome similar to Turner’s, with the Turner phenotype, but there is no chromosomal defect and Noonan syndrome occurs in both sexes. Clinical features are short stature, low-set ears and many minor skeletal deformities of which the commonest are pectus excavatum and cubitus valgus. Intelligence often below average, but the majority of Noonan children complete elementary school with satisfying results. Cardiac abnormalities occur in 50% of patients: these include pulmonary valve stenosis, thick and dysplastic pulmonary valves, right heart anomalies and left ventricular cardiomyopathy. Relatively frequent occurrence, 1: 1000. Inheritance is autosomal dominant. Sporadic occurrence is believed to be caused by new mutations. In her paper of 1968 Noonan wrote that in more thorough investigations, one or both parents frequently showed one or more characteristics. For a family in which a child with Noonan’s syndrome has been born, but both parents lack signs of it, the risk for the next child is about 5 percent.

Obesity

Obesity is a national epidemic. It is estimated that at least one of every four individuals in the United States is obese. Though not technically a disability, obesity is associated with conditions that are directly related to disability. Obesity is defined as the presence of an abnormally large amount of body fat or adipose tissue. An individual who is obese is considered to be 20% or more above his/her ideal body weight (American Obesity Association).

Osteoporosis

Osteoporosis affects approximately 25 million Americans (National Osteoporosis Foundation, 1991). It is a condition of the skeleton where the amount of bone mass (also referred to as bone density) is reduced therefore causing bones to become fragile and more likely to fracture. Fractures usually occur in the spine, hip, and wrist; however, fractures of the ribs, humerus, and pelvis are not uncommon.

Pervasive Developmental Disorder

Pervasive Developmental Disorder (PDD) is a non-progressive disorder resulting from a central nervous system lesion or abnormality that occurred during fetal brain development. This term is used to describe children who have an impairment in the quality of their social interactions and communications, but do not meet the full descriptive or diagnostic criteria for Autism, Rhett's Disorder, Childhood Disintegrative Disorder and Asperger's Syndrome.

Pfeiffer Syndrome

A congenital syndrome characterized by craniostenosis resulting from premature cranialseam-synostosis, abnormal skull shape, antimongoloid palpebrae, small nose, narrow maxillae, gothic palate, syndactyly of hands and feet, and broad thumbs and great toes. Normal intelligence. The synonym is variously classified as acrocephalosyndactyly IV (Spranger, Langer, and Wiedemann), acrocephalosyndactyly V (McKusick), and, occasionally, acrocephalosyndactyly VI. Inheritance is autosomal dominant. Variable expresssivity and a high portion of new mutations.

Poliomyelitis

Polio (also called poliomyelitis) is a contagious, potentially deadly disease. In 95% of cases, polio produces no symptoms at all (asymptomatic polio). Polio appears in three forms when the disease is symptomatic. Abortive polio is a mild form in which most people make a full recovery. Nonparalytic polio is more severe and is associated with aseptic meningitis. As with abortive polio, most individuals have a full recovery. The third form, the most severe, is paralytic polio. Paralytic polio is a virus that attacks the nerves that control the muscles of the limbs and the muscles necessary for breathing. This causes muscle paralysis that may result in death. (Hemophilia - World Federation).

Prader Willi Syndrome

Prader-Willi syndrome (PWS) is a birth defect of unknown cause. Infants, because of weak limp muscles (hypotonia), usually nurse or suck poorly and often must be fed with special nipples or tubes. They sit up, crawl and walk later than the average child (Prader Willi Syndrome Association).

Prune-Belly Syndrome

Prune Belly Syndrome, also known as Eagle-Barrett Syndrome, is a rare disorder characterized by partial of complete absence of the stomach (abdominal) muscles, failure of both testes to descend into the scrotum (bilateral cryptorchidism), and/or urinary tract malformations, such as abnormal widening (dilation) of the tubes that bring urine to the bladder (ureters), accumulation of urine in the ureters (hydroureter) and the kidneys (hydronephrosis), and/or backflow of urine from the bladder into the ureters (vesicoureteral reflux).  Complications associated with Prune-Belly Syndrome may include underdevelopment of the lungs (pulmonary hypoplasia) and/or chronic renal failure.  The exact cause of Prune-Belly Syndrome is not known. 

Rett Syndrome

Rett Syndrome is a unique neurological disorder that is often misdiagnosed as Autism and Pervasive Developmental Disorder. The disorder was first noted by its namesake, Dr. Andreas Rett in 1964; but it became most well known in 1983 after a first English publication by Dr. Bengt Hagberg. Rett syndrome is now known to occur in anywhere from 1:10,000 to 1:23,000 female births. Approximately 99.5% of such births occur only once in a given family. Rett involves a genetic defect that is carried on the x chromosome, which is why it is almost always exclusive to females (who have an extra x chromosome--male fetuses can not compensate without the additional chromosome and therefore donÅft usually come to term). The disorder occurs across all racial and ethnic groups. It is a unique neurological disorder that is often misdiagnosed as Autism and Pervasive Developmental Disorder. The disorder was first noted by its namesake, Dr. Andreas Rett in 1964; but it became most well known in 1983 after a first English publication by Dr. Bengt Hagberg. Rett syndrome is now known to occur in anywhere from 1:10,000 to 1:23,000 female births. Approximately 99.5% of such births occur only once in a given family. Rett involves a genetic defect that is carried on the x chromosome, which is why it is almost always exclusive to females (who have an extra x chromosome--male fetuses can not compensate without the additional chromosome and therefore don't usually come to term). The disorder occurs across all racial and ethnic groups. (International Rett Syndrome Assn).

Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome refers to a specific pattern of physical features and developmental  disabilities which occur together in a consistent fashion. Individuals with Rubinstein-Taybi syndrome have short stature, developmental delay, similar facial features, and broad thumbs and first toes. The condition was first described in 1963 by Dr. Jack Rubinstein and Dr. Hooshang Taybi who recognized  this pattern in seven unrelated children. Since 1963, there have been over 400 individuals reported with the Rubinstein-Taybi syndrome. Although the exact  incidence is unknown, it has been estimated that approximately 1 out of 300,000  persons has the Rubinstein-Taybi syndrome. The condition occurs with equal  frequency in males and females (Rubinstein-Taybi Syndrome Group).

San Filippo Syndrome

Sanfilippo syndrome is one of the hereditary mucopolysaccharide storage diseases, and it is characterized by the absence of one of several enzymes. These enzymes help the body get rid of a substance normally found outside of our cells called a mucopolysaccharide. This substance is called heparan sulfate, and in Sanfilippo syndrome, large amounts of it are excreted in the urine (Sanfilippo Syndrome Information).

Spina Bifida

Spina Bifida is the most common congenital spinal defect. Spina Bifida is caused by failure of the neural arch of the vertebra to properly develop and enclose the spinal cord. This usually occurs between the fourth and sixth week of pregnancy. Most severe type of Spina Bifida is myelomeningocele. The spinal cord, nerve roots and lining (meninges) protrude out into a sac from an opening in the spine. In the Meningocele:form the spinal cord lining protrudes out into a sac, but the spinal cord and nerves are not displaced. The least severe type Oculta . Vertebral arches fail to fuse, but there is no protrusion of the spinal cord lining or the spinal cord itself. This type does not cause paralysis or muscle weakness and usually is not diagnosed unless an x-ray is taken.( Spina Bifida Association of America).

Spinal Cord Injury

When a person experiences a Spinal Cord Injury the communication between the brain and other parts of the body is disrupted and messages no longer flow past the damaged area. The extent of the communication breakdown is dependent on both the severity and location of the injury (Spinal Cord Injury Resource Center).

Sturge-Weber Syndrome

Sturge-Weber syndrome (also called "encephalotrigeminal angiomatosis") is a congenital disorder characterized by a vascular birthmark and neurological abnormalities. Symptoms of the disorder, which vary widely among patients, may include eye and internal organ irregularities. The most apparent symptom is a facial birthmark or port wine stain which is present at birth and usually involves at least one upper eyelid and the forehead. The stain, varying from light pink to deep purple, is caused by an overabundance of capillaries just beneath the surface of the affected skin. Neurological symptoms include excessive blood vessel growth on the surface of the brain (angiomas). These angiomas are typically located on the posterior or occipital region of the brain and cause seizures, which often start before one year of age and may worsen with age. The convulsions usually appear on the side of the body opposite the port wine stain and vary in severity. A weakening or loss of use of the side of the body opposite the port wine stain (hemiparesis) may also develop. Developmental delay of motor and cognitive skills may occur. Glaucoma (increased pressure within the eye) may be present at birth or develop later. Buphthalmos (enlargement of the coatings of the eye) may also occur in the eye that is affected by the port wine stain. Sturge-Weber syndrome rarely affects other body organs.

Traumatic brain injury

Traumatic brain injury (TBI) is injury caused to the head that results in minor to serious brain injury. It is caused by either an open head injury where there is a penetrating lesion or closed head injury where there is no outward injury (Traumatic Brain Injury resources).

Turner’s Syndrome

 Turner's Syndrome is a rare chromosomal disorder of females characterized by short stature and the lack of sexual development at puberty. This syndrome was first described by H.H. Turner in 1938. Other physical features may include a webbed neck, heart defects, kidney abnormalities, and/or various other malformations. Normally, females have two X chromosomes. In some cases of Turner's Syndrome, however, one X chromosome is missing from the cells; research studies suggest that approximately 40 percent of these individuals may have some Y chromosomal material in addition to the one X chromosome. In other affected females, both X chromosomes may be present, but one may have genetic defects. In still other cases, some cells may have the normal pair of X chromosomes while other cells do not. Although the exact cause of Turner's Syndrome is not known, it is believed that the disorder may result from an error during the division (meiosis) of a parent's sex cells.

Visual Impairment

Visual Impairment (VI) is an impairment in vision which, even with correction, adversely affects an individual's educational performance. This term includes individuals who are partially sighted and blind.

Weaver Syndrome

Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements (psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a hoarse low-pitched cry.

Wolfram Syndrome

A rare autosomal recessive disorder that leads to many different abnormalities, including diabetes mellitus, deafness, and blindness. Patients usually also suffer from severe abnormalities of the nervous system that can be accompanied by behavior problems, psychiatric hospitalizations, and, in 25 percent of cases, suicide attempts.

XXY Syndrome

A rare chromosomal genetic syndrome where the person has XXY chromosomes instead of XY or XX. The person is usually male because of the Y chromosome, but has lower levels of testosterone and may have some female-like features (because there are two X chromosomes). Sterility is a possible complication. The rarer subtype XXXY syndrome may lead to retardation.

Zellweger Syndrome

Zellweger syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of genetic disorders called peroxisomal diseases that affect brain development and the growth of the myelin sheath, the fatty covering-which acts as an insulator-on nerve fibers in the brain. The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur.