All Conditions

Albinism

Albinism is an inherited disorder where there is either total absence or decreased production of the usual normal pigmentation. The pigment concerned is called melanin and only occurs in certain areas of the body. If there is pigment deficiency, it will not have any adverse effects on other body functions such as intelligence, heart, kidney, lungs, liver or general well being. Another effect of albinism is on the pathways of the optic fibres. Albinism is also a very varied condition, some people have no skin pigmentation, others have normal skin pigmentation, but reduced pigment in the eye. Some people have very poor vision, others virtually normal vision, although most have some visual problem.

Alzheimers

Alzheimer's disease is a physical disease which affects the brain resulting in impaired memory, thinking and behaviour. Memory of recent events is the first to be affected, as the disease progresses, long term memory is also lost. The disease affects many of the brain's other functions and consequently many other aspects of the person's functioning are disturbed. There are two different types of Alzheimer's disease: Sporadic Alzheimer's disease is by far the most common form of Alzheimer's disease. It affects adults at any age, but usually occurs after age 65. Familial Alzheimer's disease runs in a few families and is very rare.

Angelman Syndrome

Angelman syndrome is a congenital neurological disorder. It is called Angelman syndrome in honour of Harry Angelman, the doctor who first investigated the symptoms in 1965.) Characteristics of Angelman syndrome include distinctive facial features, mental retardation, speech problems or no speech at all, and hyperactive behaviour. In most cases, the cause is a missing section or a problem on the maternal copy of chromosome 15. Most diagnoses are made between the ages of three and seven years of age. Estimates vary, but Angelman syndrome is thought to affect one child in every 10,000 to 25,000.

Arthritis

Arthritis is often referred to as a single disease. However it is a term for more than 100 medical conditions that affect the musculoskeletal system, specifically joints where two or more bones meet. Arthritis-related problems include pain, stiffness, inflammation and damage to joint cartilage and surrounding structures. This can result in joint weakness, instability and deformities that can interfere with the most basic daily tasks such as walking, driving a car and preparing food. The most common forms of arthritis are: Osteoarthritis, Rheumatoid arthritis, Gout, Ankylosing spondylitis, Juvenile arthritis, Systemic lupus erythematosus

Arthrogryposis

Arthrogryposis is a term describing the presence of multiple joint contractures at birth. A contracture is a limitation in the range of motion of a joint. In some cases, few joints may be affected and the range of motion may be nearly normal. Hands, wrists, elbows, shoulders, hips, feet and knees can be affected. In the most severe cases, nearly every body joint may be involved including the jaw and spine. The joint contractures are frequently accompanied by muscle weakness which further limits movement. In most cases, arthrogryposis is not a genetic condition and does not occur more than once in a family. In about 30% of cases, a genetic cause can be identified.

Aspergers Syndrome

Asperger's Syndrome is a form of Autism. It is a developmental disability, the main features of which are recognized in early childhood. Asperger's Syndrome affects the way a person communicates and relates to others. The disability is lifelong. However, many people with Asperger's Syndrome are very able to lead successful lives, following careers of their choice, if given timely and appropriate support. Unlike Autism, children with Asperger's Syndrome develop language skills at the same time as other children although they frequently have difficulties in using this language effectively. People with Asperger's Syndrome are often of average or above average intelligence.

Asthma

People with asthma have sensitive airways in their lungs. When they are exposed to certain triggers, their airways narrow making it hard for them to breathe. The causes of asthma are not really understood, but there is often a family history of asthma, eczema or hayfever. Asthma can begin at any age and change over time. Unborn babies whose mothers smoke during pregnancy and children exposed to smoke in early childhood have a higher risk of developing childhood asthma. Symptoms of asthma include: Coughing, Shortness of breath, Tightness in the chest and wheezing. The symptoms of asthma may vary from person to person. Some people may have all these symptoms while other people may only have a wheeze or cough.

Attention Deficit Hyperactivity Disorder (ADHD)

Attention Deficit Hyperactivity Disorder (ADHD) is a neurobiological disorder which affects 3-10% of school-age children. It was once diagnosed only in children, but we now know that it persists into adulthood for many. Although the symptoms seem benign, they can cause severe problems in social, academic, and work settings. Early identification and treatment are extremely important, as they help many people with ADHD to become very successful in life.

Autism

A developmental disorder that appears by age three and that is variable in expression but is recognized and diagnosed by impairment of the ability to form normal social relationships, by impairment of the ability to communicate with others, and by stereotyped behavior patterns especially as exhibited by a preoccupation with repetitive activities of restricted focus rather than with flexible and imaginative ones.

Brain Injury/Head Injury

Brain injury includes a complex group of medical and surgical problems that are caused by trauma to the head. Some of these problems result from a direct impact to a particular portion of the skull or brain: a skull fracture occurs when the bone of the skull cracks or breaks, and in a depressed skull fracture pieces of broken skull press into the brain. This can cause bruising of the brain tissue, called contusion. Others problems result from indirect mechanisms -- the stretching and tearing of blood vessels or white matter fibres, the "bouncing" of the brain against the inside of the skull, or the secondary swelling of the brain due to injury-related chemical changes. Shaken baby syndrome is a severe form of head injury that occurs when a baby is shaken forcibly enough to cause extreme contusions. Damage to a major blood vessel within the head can cause a haematoma, or bleeding into or around the brain.

Cancer

Any malignant growth of cells in the body. Cancer cells grow uncontrollably, and have the potential to spread and establish growth in other parts of the body - i.e. are malignant. Cancer is generally divided into three broad groups: 1) carcinomas - those derived from cells found in the lining of various tissues, 2) sarcomas - those derived from the underlying supporting tissue, and 3) hematologic tumours - those derived from bone marrow and lymphatic tissue.

Cerebral Palsy

A disorder usually caused by brain damage occurring at or before birth and marked by muscular impairment. Often accompanied by poor coordination, it sometimes involves speech and learning difficulties.

Charcot-Marie-Tooth Disease

A form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant.

CHARGE

SyndromeCHARGE is an acronym for C - COLOBOMA (incomplete development of the eye) H - HEART (abnormal configurations) A - ATRESIA of the choanae (a blockage of the nasal passage) R - RETARDATION of growth and/or development G - GENITAL defects E - EAR abnormalities and may include hearing loss

Cleft Palate and Lip

A cleft palate occurs when the roof of the mouth has not joined completely. The back of the palate is called the soft palate and the front is known as the hard palate. A cleft palate can range from an opening at the back of the soft palate to a nearly complete separation of the roof of the mouth. A cleft lip is a condition that creates an opening in the upper lip between the mouth and nose. It looks as though there is a split in the lip. It can range from a slight notch in the coloured portion of the lip to complete separation in one or both sides of the lip extending up and into the nose.

Coeliac Disease

Coeliac disease (pronounced Seel-ee-ak), sometimes called gluten-sensitive enteropothy, is a medical condition and is a permanent intestinal intolerance to dietary gluten. In untreated coeliac disease the lining of the small bowel (intestine) is damaged. This causes a flattening of the tiny, finger-like projections, called villi, which line the inside of the bowel. The function of the cells on normal villi is to break down and absorb nutrients in food. In untreated coeliac disease, the lining of the intestine becomes inflamed and gives a characteristic flat appearance (villous atrophy). The surface area, which enables the absorption of nutrients and minerals from food, is seriously depleted. This leads to deficiencies in vitamins, minerals and sometimes proteins, carbohydrates and fats.

Colitis

Colitis is an inflammatory condition, confined to the inner lining of the large intestine and rectum. It is almost always present in the rectum and tends to be continuous in appearance involving either the lower part only, or extending further along the entire length of the large intestine.When limited to the rectum, the correct term is 'ulcerative proctitis'. In a few individuals it is not possible to distinguish whether they have Crohn's disease or ulcerative colitis. The condition is then referred to as indeterminate colitis.

Cornelia De Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is congenital, which means that it is present from birth. Common physical characteristics of people with CdLS include delayed growth and small stature, small head size, thin eyebrows which frequently meet at the midline, a short upturned nose, and thin, downturned lips. People with CdLS can suffer from seizures, heart defects, cleft palate, bowel abnormalities and developmental delay.

Crohn's Disease

Crohn's disease, is an inflammatory condition that can be found in any part of the gastrointestinal tract, from the mouth to the anus, but most commonly it involves the lower end of the small intestine (ileum) and/or the large intestine (colon). Areas of inflammation can appear interspersed with healthy parts of the intestine and may involve the full thickness (all layers) of the intestine.

Cushing's syndrome

Cushing's syndrome is a collection of hormonal disorders characterised by high levels of the hormone cortisol. Another name for Cushing's syndrome is hypercortisolism. Some people have Cushing's syndrome symptoms when they take glucocorticoid hormones to treat inflammatory conditions such as asthma, lupus or rheumatoid arthritis. Other causes include tumours of the pituitary and adrenal glands, and tumours in other areas of the body. Around one in 50,000 people are affected by Cushing's syndrome, with females more susceptible to some forms than males. Without treatment, the disorder can be fatal.

Cystic Fibrosis

Cystic Fibrosis is an inherited, recessive genetic condition which mainly affects the lungs, digestive system and the sweat glands. It is the most common life threatening condition affecting Australian children. Cystic Fibrosis is a condition in which there is considerable variation in the severity of symptoms. Cystic Fibrosis was first recognised as a specific condition in the 1930's at which time the outlook for babies born with the condition was not good. Today with earlier diagnosis, greater understanding of the condition, improvements in treatment and better management the majority of children live into adulthood.

Deafness

Deafness is the inability to hear properly, or not at all. The majority of deaf people acquire their deafness after learning spoken language. They may have lost their hearing because of an accident or illness, or because of constant exposure to loud noise, or just through old age. Most of these people rely on assistive devices such as hearing aids for amplification of sound.

Diabetes

Diabetes is the name given to a group of different conditions in which there is too much glucose in the blood. In Type 1 diabetes, symptoms are usually sudden and can be life-threatening, therefore it is mostly diagnosed quite quickly. In Type 2 diabetes, many people have no symptoms at all, while other signs can go unnoticed, being seen as part of 'getting older'. Therefore, by the time symptoms are noticed, the blood glucose level for many people can be very high.

Down Syndrome

A congenital disorder, caused by the prescence of an extra 21st chromosone, in which the affected person has mild to moderate developmental disability, short stature and a flattened facial profile. Also called trisomy 21.

Fragile X

Fragile X is the most common inherited cause of mental impairment and the most common cause of Autism. As yet, there is no known cure, but research is currently being carried out to learn more. Features usually include: • mental impairment, ranging from learning disabilities to mental retardation • long face, large ears, flat feet • hyper extensible joints, especially fingers • ear infections • squints (strabismus) • seizures (epilepsy) affect about 25% of people with fragile x Boys are typically more severely affected than girls. While most boys have mental retardation, only one-third to one-half of girls have significant intellectual impairment; the rest have either normal IQ and learning disabilities. Emotional and behavioural problems are common with both sexes. About 20% of boys with fragile X meet full criteria for autism. Most boys and some girls have symptoms of autism, but tend to be very social and interested in other people. Behavioural Characteristics include: • attention deficit and hyperactivity • anxiety and unstable mood • autistic like behaviour • repetitive speech • lack of concentration • delayed speech • poor social skills

Guillain - Barre Syndrome

The disorder commonly called Guillain-Barre syndrome is a rare illness that affects the peripheral nerves of the body. It can cause weakness and paralysis, as well as abnormal sensations. The syndrome occurs sporadically, that is, it cannot be predicted, and can occur at any age and to both sexes. It can vary greatly in severity from the mildest case, that may not even be brought to the doctors' attention, to a devastating illness with almost complete paralysis that brings a patient close to death. Because it is so rare, most of the public has never heard of the illness, or if they did, know little about it.

Haemophilia

A hereditary blood defect that occurs almost exclusively in males and is characterized by delayed clotting of the blood and consequent difficulty in controlling hemorrhage even after minor injuries.

Hydrocephalus

An abnormal condition in which cerebrospinal fluid collects in the ventricles of the brain; in infants it can cause abnormally rapid growth of the head and a small face; in adults the symptoms are primarily neurological.

Imperforate Anus and Rectal Atresia

Imperforate anus is a congenital absence or obstruction of the anal opening

Klinefelter's Syndrome

Klinefelter's Syndrome is a congenital genetic condition that only affects males. Klinefelter's Syndrome is a condition where men are unable to produce both sperm and enough of the male hormone testosterone for the body's needs. Klinefelter's Syndrome affects about one in 650 men. It is one of the most common genetic disorders. However, it is believed that many men with Klinefelter's Syndrome are never diagnosed

Klippel Feil Syndrome

A condition characterized by shortness of the neck resulting from reduction in the number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. The hairline is low and the motion of the neck is limited.

Lupus

There are two types of lupus. Discoid lupus is a characteristic rash without significant problems. Systemic Lupus Erythematosus (SLE) may affect many other organs in the body, as well as the skin. SLE is an inflammatory disease whereby various target tissues in the body become inflamed and produce symptoms due to this process. The inflammation can also change the function of some of the inflamed tissue and if it persists may lead to long term damage in such structure. Inflammation in a joint may cause arthritic symptoms, in the skin a rash, or in the kidneys may result in nephritis. Sometimes the lupus process will also affect the blood cells of the body causing a low blood count. SLE is grouped with a number of connective tissue diseases such as rheumatoid arthritis, scleroderma, polymyositis and others. Many features of these diseases are shared and overlaps between them do occur. The cause of SLE is unknown but current treatment will control the majority of manifestations. Extensive current research is directed towards immunological and genetic aspects of this condition.

Marfan Syndrome

Marfan syndrome is a dominant inherited disorder of the body's connective tissue. Connective tissue offers support to many structures including bones, tendons, ligaments, cartilage, heart valves and blood vessels. Marfan syndrome can be mild to severe and may become worse with age, depending on which area is affected and to what degree.

Meningitis

Meningitis is the inflammation of the meninges (the membrane lining of the brain and spinal cord). It usually refers to infections caused by viruses, bacteria, fungi, and other microorganisms such as parasites. Bacterial meningitis is life threatening and can cause death within hours, if not properly treated . There are many types of meningitis and whilst the symptoms are similar for each, the causes, treatments and outcomes do vary.

Multiple Sclerosis

A chronic degenerative disease of the central nervous system in which gradual destruction of myelin occurs in patches throughout the brain or spinal cord or both, interfering with the nerve pathways and causing muscular weakness, loss of coordination, and speech and visual disturbances. It occurs chiefly in young adults and is thought to be caused by a defect in the immune system that may be of genetic or viral origin.

Myasthenia Gravis

Myasthenia gravis is a chronic muscle disease that produces weakness and abnormally rapid fatigue of the voluntary muscles. The weakness is called by a defect in the transmission of nerve impulses to muscles. The disease is seldom fatal, though it can be life-threatening when muscle weakness interferes with respiration. Modern methods of treatment give may patients marked relief of symptoms and often allow them to lead full, productive lives.

Neurofibromatosis

Neurofibromatosis (NF) is the name given to two different conditions: (NF1), also known as Von Recklinghausen's disease, and (NF2). You cannot catch either type of NF; they are genetic disorders, ie. they are due to an abnormality of one of the genes. About 50% of people with NF are the first person to be affected in their family. In these people the disorder is due to a spontaneous new change in an NF gene. In the other 50% of people with NF, the abnormal gene is inherited from one of their parents, who also has NF. NF1 and NF2 can be inherited in a family. Any child of an affected person has a 1 in 2 chance of inheriting NF.

Paraplegia

Complete paralysis of the lower half of the body including both legs, usually caused by damage to the spinal cord.

Parkinson's Disease

Parkinson's is a progressive disorder of the brain resulting from the degeneration of nerve cells in the Substantia Nigra, a part of the brain which helps regulate and control smooth movement throughout the body. The three main symptons associated with Parkinson's are Tremors, Stiffness in the muscles and slowness of movement.

Perthes Disease

Perthes' disease is a disease of the hip joint in children. In the early stages of Perthes' disease, the child will have a limp that often comes and goes. The limp may get worse as the disease progresses. Eventually, the child may feel pain in the knee, thigh or groin when they put weight on the leg or move the hip joint. Also, there will be less movement in the hip joint. If the child has had the condition for a long time, the affected leg may be slightly thinner and occasionally shorter. Despite pain and limping, these children are healthy. Perthes' disease usually affects children between the ages of three and eleven years. It is more common in boys than in girls. Only one hip is affected in over three-quarters of children.

Pituitary Disease

The pituitary gland is the master gland of the body. Connected to the base of the brain, the pituitary relays messages from the brain to the rest of the body through hormones, controlling many vital body functions, including growth, energy balance, appetite, body weight, cognition and reproduction. Pituitary disease impairs psychological, physical and reproductive function and is commonly caused by a tumour. Pituitary tumours are found in 10-20% of adults and if left untreated may increase risk of mortality. The vast majority of tumours remain undiagnosed, thus early diagnosis and the application of appropriate treatments are important goals of therapy.

PKU

This disorder is caused when a baby's body cannot breakdown the amino acid, phenylalanine, which is in protein. PKU is a rare condition due to a recessively inherited deficiency of the enzyme phenylalanine hydroxylase. If the baby is detected by NBS and given a diet low in phenylalanine (very low protein plus a special formula) there will be normal growth and development. Untreated PKU causes severe mental deficiency, which can be avoided if treatment is started in the first weeks of life. Although severe mental deficiency is usual in untreated cases, occasional asymptomatic adults are found with normal or near normal intelligence.

Prader-Willi Syndrome

Prader-Willi Syndrome (PWS) is a complex medical condition that affects boys and girls equally and continues to affect them throughout their lives. People with Prader-Willi Syndrome have an obsession with food and eating (from about age 2), poor muscle tone and balance, learning difficulties, lack of normal sexual development, emotional instability and lack of maturity. It has been estimated that about 1 in 15,000 people from all races are born with PWS - it is not inherited in 99% of cases. The name of the syndrome is derived from the names of the doctors who first described the disorder in 1956.

Quadriplegia

A spinal disability caused by disruption or injury to the spinal cord generally between C1 - C7

Retinitis Pigmentosa

Retinitis Pigmentosa is the name given to a group of diseases which affect the retina of the eye. The retina, located in the back of the eye, is the part of the eye that acts like the film in a camera. It is a delicate layer of cells which picks up the picture and transmits it to the brain - where seeing actually occurs. The retina begins to degenerate, which causes vision to diminish. One of the earliest symptoms is difficulty seeing at night or in dimly lit places (night blindness). Later there is a reduction in side (peripheral) vision. Symptoms generally increase over the years.

Retinitis Pigmentosa

Rett Syndrome

Rett syndrome severely affects speech and movement. People with the syndrome are nearly always girls. Mutations in the gene MECP2, which is located on the X chromosome at Xq28, are a cause of Rett syndrome. People are diagnosed with Rett syndrome if they display a certain set of symptoms in their first three or four years. These include: a period of normal early development, slowed head growth, severe impairment of expressive language, loss of purposeful hand use, followed by repetitive hand movements such as clapping, tapping and wringing, shakiness of the upper body - this may extend to the legs and arms and an unsteady walk.

Spina Bifida

A congenital defect in which the spinal column is imperfectly closed so that part of the meninges or spinal cord protrudes, often resulting in hydrocephalus and other neurological disorders.

Stroke

A sudden loss of brain function caused by a blockage or rupture of a blood vessel to the brain, characterized by loss of muscular control, diminution or loss of sensation or consciousness, dizziness, slurred speech, or other symptoms that vary with the extent and severity of the damage to the brain.

Thyroid Disease

Thyroid disease happens when there is either: An imbalance in T4 production, a lump(s) form in or on the gland, due to an autoimmune problem, you can develop Hashimoto's Thyroiditis or Graves' disease. Iodine deficiency can also cause thyroid disease. In Australia, 1 in 14 people are diagnosed with some form of thyroid disease. It can be hereditary problem which runs through families with an autoimmune disease, or it may be due to iodine deficiency, benign or malignant tumours or other forms of inflammation.

Trisomy

A person with a Trisomy related disorder can range from being mild to severely delayed in development. Most children with Trisomy are very happy and are a pleasure to be with.

Tuberous Sclerosis

TSC is a genetic disorder that leads to benign tumors in multiple organs, including the brain, kidneys, heart, eyes, lungs and other organs. During the first few years, the severity of TSC can range from mild skin abnormalities to, in severe cases, seizures, mental retardation or renal failure.

VATER Syndrome

VATER is an acronym used to describe a series of characteristics which have been found to occur together. V stands for vertebrae, which are the bones of the spinal column. A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body. C is added to the acronym to denote cardiac anomalies. TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube). R stands for renal or kidney anomalies and radial or arm anomalies. L is often added to stand for limb anomalies. Babies who have been diagnosed as having VACTER association usually have at least three or more of these individual anomalies.

Williams Syndrome

A rare congenital disorder associated with deletion of genetic material in chromosome 7; characterized by mental deficiency and some growth deficiency and elfin faces but an overly social personality and a remarkable gift for vocabulary.

Wolf Hirschhorn Syndrome

Wolf-Hirschhorn syndrome is the result of a genetic error on chromosome 4. In 87% percent of individuals, there is no family history of the disorder. Wolf-Hirschhorn syndrome affects females more frequently than males. Wolf-Hirschhorn syndrome causes malformations in most parts of the body because the genetic error affects foetal growth and development. Symptoms may include: Distinctive facial features - prominent forehead, wideset eyes, and broad beaked nose, profound mental retardation, small head, seizures, low muscle tone, poor muscle development very short stature, facial deformities, malformations of hands and feet, chest, and spine, heart defects and - malformations or underdevelopment of the genitals and Urinary organs.

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