Agenesis of the corpus callosum
Is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum. It occurs when the corpus callosum, the band of white matter connecting the two hemispheres in the brain, fails to develop normally, typically during pregnancy. Some characteristics common in individuals with callosal disorders include vision impairments, low muscle tone (hypotonia), poor motor coordination, delays in motor milestones such as sitting and walking, low perception of pain, delayed toilet training, and chewing and swallowing difficulties. Laboratory research has demonstrated that individuals with ACC have difficulty transferring more complex information from one hemisphere to the other. They also have been shown to have some cognitive disabilities (difficulty in complex problem solving) and social difficulties (missing subtle social cues), even when their intelligence quotient is normal.
From Greek meaning lack of blood, is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood.
Most commonly, people with anemia report feelings of weakness, or fatigue, general malaise, and sometimes poor concentration. They may also report dyspnea (shortness of breath) on exertion.
Anorexia nervosa is a serious mental health condition. It’s an eating disorder where a person keeps their body weight as low as possible. People with anorexia usually do this by restricting the amount of food they eat, making themselves vomit, and exercising excessively.
Anterior horn cell disorder
Anterior horn cell disease is a neurological disorder that affects the nerve cells of the spinal cord. The disorder affects the voluntary skeletal muscles of the muscular system
Aphasia is a condition that affects the brain and leads to problems using language correctly. People with aphasia make mistakes with the words they use, sometimes using the wrong sounds in a word, choosing the wrong word, or putting words together incorrectly.
Ataxia is a term for a group of disorders that affect co-ordination, balance and speech. Any part of the body can be affected, but people with ataxia often have difficulties with balance and walking, speaking, swallowing, tasks that require a high degree of control, such as writing and eating and vision
Is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. It is caused by a mutation in any one of 5 genes. In some cases, the condition manifests before birth, affected infants typically do not grow and gain weight as expected. Dehydration, constipation and increase urine production are the result of losing too much salt in the urine. Weakening of the bones can occur due to excess loss of calcium, and muscle weakness, cramping and fatigue occur due to low levels of potassium in the blood. The different types of Bartter Syndrome are classified according to the age of onset, severity, and the specific gene that causes the condition.
Becker Muscular Dystrophy
Becker Muscular Dystrophy is an inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis.
Bilateral hearing loss
Is hearing loss in both ears.
Is a rare and life-threatening form of non-reversible obstructive lung disease.
Carey Fineman Ziter
Is a rare genetic muscular disorder present at birth characterised by a facial weakness or paralysis, and a small or retracted chin and clef palate.
Is caused by damage to the motor control centres of the developing brain and can occur during pregnancy, during childbirth or after birth up to about age three. Resulting limits in movement and posture cause activity limitation and are often accompanied by disturbances of sensation, depth perception, and other sight-based perceptual problems, communication ability; impairments can also be found in cognition, and epilepsy is found in about one-third of cases.
The name CHARGE is an abbreviation for several of the features common in the disorder: coloboma (an eye condition), heart defects, atresia choanae (a problem behind the nose), growth retardation, genital abnormalities, and ear abnormalities.
Previously called an Arnold-Chiari malformation, is where the lower part of the brain pushes down into the spinal canal. This defect usually develops before birth. Some people with Chiari malformations may have no symptoms. Others may have symptoms such as: dizziness , muscle weakness, numbness, vision problems, headaches and problems with balance and coordination. Chiari malformations affect females more often than males.
Chronic fatigue syndrome
Is the common name for a group of significantly debilitating medical conditions characterized by persistent fatigue and other specific symptoms that lasts for a minimum of six months in adults (and 3 months in children or adolescents). The fatigue is not due to exertion, not significantly relieved by rest, and is not caused by other medical conditions .
Symptoms of CFS include malaise after exertion; unrefreshing sleep, widespread muscle and joint pain, sore throat, headaches of a type not previously experienced, cognitive difficulties, chronic and severe mental and physical exhaustion, and other characteristic symptoms in a previously healthy and active person. Additional symptoms may be reported, including muscle weakness, increased sensitivity to light, sounds and smell, orthostatic intolerance, digestive disturbances, depression, painful and often slightly swollen lymph nodes, cardiac and respiratory problems
Is a surgically implanted electronic device that provides a sense of sound to a person who is profoundly deaf or severely hard of hearing.
Congenital Upper Limb Deficiency
Is the abnormal shaping or forming of the upper limbs during pregnancy.
Congenital Heart Disease.
Congenital heart disease is a general term for a range of birth defects that affect the normal way the heart works.
Is a type of inflammatory bowel disease that may affect any part of the gastrointestinal tract , causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhoea, vomiting or weight loss, but may also cause complications outside the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration.
Syndrome (CFS) is a debilitating disorder characterized by extreme fatigue or tiredness that doesn’t go away with rest and can’t be explained by an underlying medical condition.
Is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. Difficulty breathing is the most serious symptom. Other symptoms, include sinus infections, poor growth, and infertility.
Dandy Walker Syndrome
Is a form of Hydrocephalus. Dandy–Walker syndrome is a rare group of congenital human brain malformations. There are three subtypes which affect multiple organs to varying degrees, but the fundamental abnormalities involve the cerebellum which controls muscle coordination.
Dissociative identity disorder (DID)
Dissociative identity disorder (DID), previously known as multiple personality disorder, is a mental disorder characterized by at least two distinct and relatively enduring personality states. This is accompanied by memory gaps beyond what would be explained by ordinary forgetfulness. These states alternately show in a person’s behavior; presentations, however, are variable.
Is the most common chromosome abnormality in humans. It is typically associated with a delay in cognitive ability and physical growth, and a particular set of facial characteristics. Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development. Effects of the condition on the development of gross motor skills are quite variable. A large proportion of individuals with Down syndrome have a severe degree of intellectual disability.
Duchenne muscular dystrophy
Is a recessive X-linked form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and eventual death.
Later symptoms may include abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs, eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages.
Is a specific learning disability involving innate difficulty in learning or comprehending arithmetic. It is akin to dyslexia and includes difficulty in understanding numbers, learning how to manipulate numbers, learning maths facts, and a number of other relate symptoms.
Dysexecutive Syndrome is a neurological impairment of executive function, where people have trouble with complex thinking and reasoning tasks. It is most commonly seen in people with brain injuries. Some mental health conditions and cognitive disabilities can also create signs of dysexecutive syndrome
Is a partial or complete impairment of the ability to communicate resulting from brain injury.
Dysphasia can occur in a variety of forms, depending on how the communicative disruption manifests.
Classically, dysphasia can affect one or more of the basic language functions: comprehension (understanding spoken language), naming (identifying items with words), repetition (repeating words or phrases), and speech.
Dysphasia does not necessarily prevent proper cognitive function, so the person can think and feel with perfect clarity. This can be extremely frustrating for the patient, as they cannot express these thoughts and feelings to others.
Is a neurological disorder, characterised by a difficulty with handwriting.
Dystonia is a medical term for a range of movement disorders that cause muscle spasms and contractions. The spasms and contractions may either be sustained or may come and go. Movements are often repetitive and cause unusual, awkward and sometimes painful postures.
Ehlers-Danlos syndrome (EDS) is the name for a group of rare inherited conditions that affect connective tissue.
Is a paralysis of the arm caused by injury to the upper group of the arm’s main nerves, specifically the severing of the upper trunk C5–C6 nerves.
Executive Function Disorder
An executive function disorder is a neurological disorder that creates a pattern of inattention, impulsivity, hyperactive behaviour, or a combination of all three.
The defining symptoms of fibromyalgia are chronic widespread pain, fatigue, and heightened pain in response to tactile pressure (allodynia). Other symptoms may include tingling of the skin, prolonged muscle spasms, weakness in the limbs, nerve pain, muscle twitching, palpitations, functional bowel disturbances, and chronic sleep disturbances.
Many patients experience cognitive dysfunction (known as “fibrofog”), which may be characterized by impaired concentration, problems with short and long-term memory, short-term memory consolidation, impaired speed of performance, inability to multi-task, cognitive overload, and diminished attention span. Fibromyalgia is often associated with anxiety and depressive symptoms.
Fragile X syndrome
Is a genetic syndrome that is an inherited cause of learning difficulties among men. It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and behavioural characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.
Is a condition where the liver does not process bilirubin very well. It can cause mild jaundice from time to time.
Is a group of hereditary genetic disorders that impair the body’s ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
Is a condition in which one side of the body or a part of one side is larger than the other.
This can affect mobility and occasionally results in a learning difficulty.
High Functioning Autism
Is a disorder of the abdomen that occurs when part or all of the large intestine or antecedent parts of the gastrointestinal tract have no nerves and therefore cannot function.
Is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It typically becomes noticeable in mid-adult life. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, which is why the disease used to be called Huntington’s chorea.
Also known as “water on the brain,” is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. Learning disabilities including short-term memory loss are common. About one in four develops epilepsy.
Describes joints that stretch farther than normal.
Also known as long-sightedness , is a defect of vision caused by an imperfection in the eye (often when the eyeball is too short or the lens cannot become round enough), causing difficulty focusing on near objects.
Irlen Syndrome (also referred to at times as Meares-Irlen Syndrome, Scotopic Sensitivity Syndrome, and Visual Stress) is a perceptual processing disorder. It is not an optical problem. It is a problem with the brain’s ability to process visual information.
Juvenile Trivial Pulmonary Stenosis
Pulmonary stenosis is a condition characterized by obstruction to blood flow from the right ventricle to the pulmonary artery. This obstruction is caused by narrowing (stenosis) at one or more points from the right ventricle to the pulmonary artery.
Klinefelter syndrome, is a genetic disorder in which there is at least one extra X chromosome to a standard human male. Some degree of language learning or reading impairment may be present. There may also be delays in motor development.
Koolen De Vries Syndrome
Koolen de Vries Syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioural features. Developmental delay is noted from an early age.
Landau-Kleffner syndrome (LKS) is an age-related epilepsy syndrome of childhood. Its main features are a loss of speech and language skills, with seizures. The speech and language skills may improve over time.
Metachromatic Leukodystrophy (MLD)
Is an inherited neurometabolic disorder that affects the brain, especially the white matter. This is due to deficiency of an enzyme called arylsulphatase (ARSA) which results from an inherited gene defect. Some symptoms are disturbed vision, some parts of the body being numb, irritability and diminished muscle tone. The condition cannot be cured, however therapy can help manage symptoms, and improve quality of life.
The mitochondria in the cells are not producing enough energy. Sometimes they are not very efficient or they don’t not work at all. There is a huge variety in the symptoms and the severity of Mitochondrial Disease. It depends on how many cells are affected and where they are in the body. Everyone is affected differently.
Is a disease in which certain arteries in the brain are constricted. Blood flow is blocked by the constriction, and also by blood clots
Muscular Dystrophy (MD)
Is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time.
Is a long term genetic disorder that affects muscle function. Symptoms include gradually worsening muscle tone and weakness. Muscles often contract and are unable to relax.
Is a muscle disorder that affects mainly boys. It is usually present at birth, it affects breathing and swallowing muscles as well as general muscle weakness. Sometimes this weakness is apparent immediately from birth and sometimes symptoms may be more apparent in later childhood or adulthood.
Narcolepsy is a rare long-term brain disorder that causes a person to suddenly fall asleep at inappropriate times.
Is also known as von Recklinghausen disease. It is a genetically-inherited disorder in which the nerve tissue grows tumours (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues.
There is a high incidence of learning disabilities or cognitive deficit.
A Nissen Fundoplication is an operation to prevent acid reflux, where acid from your stomach travels up into your oesophagus. It involves wrapping the top part of your stomach around your oesophagus.
Non epileptic attack disorder
Which look similar to epileptic seizures, but are not caused by abnormal electrical activity in the brain (epileptic activity).
A condition of involuntary eye movement, acquired in infancy or later in life, that may result in reduced or limited vision.
Obsessive compulsive disorder (OCD) is a common mental health condition in which a person has obsessive thoughts and compulsive behaviours
Oppositional defiant disorder(ODD) is a disruptive behavior disorder of children. The cardinal characteristics of ODD include obnoxious aggressive behavior and an intent to bother and irritate people, particularly adult authority figures.
Optic nerve hypoplasia
Is a condition present from birth in which the eye does not have all the usual wiring between the eye and brain to transfer information about the visual world. The loss of wiring can sometimes be very small but sometimes can be complete with no information being transferred from the eye to the brain at all. (impairing sight)
Is an irritation of the knee joint.
Is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures
Is a subtype of schizophrenia in which the patient has delusions (false beliefs) that a person or some individuals are plotting against them or members of their family.
Are a category of sleep disorders
Pathological Demand Avoidance (PDA)
Describes those whose main characteristic is to avoid everyday demands and expectations to an extreme extent This demand avoidance is often accompanied by high levels of anxiety.
Is a rare genetic disorder. The characteristics are low muscle tone, short stature, cognitive disabilities, problem behaviours, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity. There is an increased risk of learning and attention difficulties.
From the Greek “psyche”, for mind/soul, and “osis”, for abnormal condition or derangement refers to an abnormal condition of the mind, and is a generic psychiatric term for a mental state often described as involving a “loss of contact with reality”. People suffering from psychosis are described as psychotic. Psychosis is given to the more severe forms of psychiatric disorder, during which hallucinations and delusions, gross excitement or stupor and impaired insight may occur.
Is an extremely rare genetic disorder. Features include small face, widely spaced eyes, a short, upturned nose, a prominent forehead, and a flat nasal bridge. The upper lip may be “tented,” exposing dental crowding, “tongue tie,” or gum hypertrophy. Medical conditions include frequent ear infection, hearing loss, hypotonia, developmental problems, respiratory problems, eating difficulties, light sensitivity, and esophageal reflux.
Is a medical condition in which the kidneys fail to adequately filter waste products from the blood.
Is a severe anxiety disorder where a person is unable to speak in certain social situations, such as with classmates at school or to relatives they do not see very often. It usually starts during childhood and, if left untreated, can persist into adulthood.
From the Greek meaning “obliquity, bending”, is a medical condition in which a person’s spine is curved from side to side.
Is a disease of the bile ducts that causes inflammation and obliterative fibrosis of bile ducts inside and/or outside of the liver.
Is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate learning disability, distinctive facial features, sleep disturbances, and behavioural problems
Sotos syndrome (cerebral gigantism)
Is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. People with Sotos syndrome often have intellectual impairment, and most also have behavioural problems. Frequent behavioural issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common. Affected individuals often have problems with sound production, stuttering, and a monotone voice.
Also known as spastic tetraplegia, is a subset of cerebral palsy that affects all four limbs (both arms and legs). Compared to quadriplegia, spastic tetraplegia is defined by spasticity of the limbs as opposed to strict paralysis.
Spinal Muscular Atrophy
Is a genetic condition that makes the muscles weaker and causes problems with movement. It’s a serious condition that gets worse over time, but there are treatments to help manage the symptoms.
Is the most frequent form of inherited juvenile macular degeneration. Stargardt causes progressive vision loss usually to the point of legal blindness
An ileostomy is where the small bowel (small intestine) is diverted through an opening in the tummy (abdomen). The opening is known as a stoma.
Also known as fainting is when you pass out for a short period of time.
Is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical (motor) tics and at least one vocal (phonic) tic. Tics are movements or sounds “that occur intermittently and unpredictably out of a background of normal motor activity” having the appearance of “normal behaviours gone wrong”. The tics associated with Tourette’s change in number, frequency, severity and anatomical location. Tourette’s does not adversely affect intelligence.
Trisomy X syndrome
Is a form of chromosomal variation characterised by the presence of an extra X chromosome in each cell of a human female. The condition occurs only in females. Symptoms may include tall stature; small head (microcephaly); vertical skinfolds that may cover the inner corners of the eyes (epicanthal folds); delayed development of certain motor skills, speech and language; learning disabilities, such as dyslexia; or weak muscle tone.
Is a rare multi-system genetic disease that causes non-malignant tumours to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioural problems, skin abnormalities, lung and kidney disease.
Turner syndrome is a genetic disorder that affects about 1 in every 2,000 baby girls and only affects females.
Vascular Ehlers-Danlos Syndrome
Is an inherited disorder of connective tissue by severe arterial and digestive complications. It is characterised by thin, translucent skin; easy bruising; characteristic facial appearance.
Von Willebrand Disease
Is the most common hereditary blood-clotting disorder in humans.
Is a rare neurodevelopmental disorder characterized by a distinctive, “elfin” facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems.
Wolff Parkinson- White Syndrome
Wolff-Parkinson-White (WPW) syndrome is a heart condition that causes the heart to beat abnormally fast for periods of time.
Is a form of cerebral palsy.
Last updated: 16th August 2023