WORLD RARE DISEASE DAY

Classic” galactosemia is caused by galactose 1-phosphateuridylyltransferase (GALT) deficiency with a GALT enzyme activity thatis absent or barely detectable. The newborn infant receives up to 40% of caloric intake aslactose (glucose + galactose). Without the transferase, the infant cannotmetabolise galactose 1-phosphate (whichconsequently accumulates, resulting in injury to the parenchymal cells ofthe kidney, liver, and brain.

PKU isan autosomal recessive disorder characterised by an increasedconcentration of phenylalanine and its by-products in body fluids andsevere intellectual disability if untreated in infancy. It results fromthe reduced activity of phenylalanine hydroxylase. Untreatedchildren with classic phenylketonuria are normal at birth but fail toattain early developmental milestones, develop microcephaly, anddemonstrate progressive impairment of cerebral function.

Canavan disease is a fatal autosomal recessive degenerative disease that causes progressive nerve cell damage and white matter loss in the brain. It is one of a group of genetic diseases known as leukodystrophies and is caused by a deficiency of the enzyme aminoacylase 2. It is characterised by myelin degeneration in the phospholipid layer insulating the axon of a neuron and is linked to a gene on human chromosome 17.

Fragile X syndrome is a genetic disorder that causes a variety of developmental issues such as learning disabilities and cognitive impairment. Males are typically more severely affected by this disorder than females. Symptoms include speech delays, anxiety, and hyperactivity. Large ears, a long face, a prominent jaw and forehead, and flat feet are all possible physical characteristics.

Lowe syndrome, also known as oculocerebrorenal syndrome of Lowe (OCRL), is a rare disorder that primarily affects men. It affects about one in every 500,000 people. Mental retardation, hypotonia, and kidney dysfunction are among its systemic manifestations. Lowe's oculocerebrorenal syndrome is a rare X-linked multisystemic disorder marked by congenital cataracts, intellectual disability, and proximal renal tubular dysfunction.

SMS, also known as 17p- syndrome, is a microdeletion syndrome caused by an abnormality in chromosome 17's short (p) arm. It has characteristics such as intellectual disability, facial abnormalities, difficulty sleeping, and a variety of behavioural issues such as self-harm. Smith-Magenis syndrome affects approximately 1 in 15,000 to 1 in 25,000 people.

Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects connective tissue. People with the condition are tall and thin, with long arms, legs, fingers, and toes. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. MFS is caused by a mutation in FBN1, one of the genes that produces fibrillin, resulting in abnormal connective tissue.

Ehlers-Danlos syndrome is a group of inherited connective tissue disorders that primarily affect your skin, joints, and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that give your body's underlying structures strength and elasticity. A more severe form of the disorder, known as vascular Ehlers-Danlos syndrome, can cause ruptures in the walls of your blood vessels, intestines, or uterus.

- Stickler syndrome is a connective tissue disorder characterised by ocular findings such as myopia, cataract, and retinal detachment; conductive and sensorineural hearing loss; midfacial underdevelopment, and cleft palate. Stickler syndrome has variable phenotypic expression both within and between families; interfamilial variability is explained in part by locus and allelic heterogeneity.

A condition in which pressure inside the skull rises for no apparent reason. Obese women of childbearing age are the most likely to develop idiopathic intracranial hypertension. The symptoms are similar to those of a brain tumour, but there is no tumour present. They may include headaches behind the eyes, ringing in the ears that corresponds to the heartbeat, and brief periods of blindness.

Niemann-Pick Type C is a rare inherited disease. This type of genetic mutation causes cholesterol and other fats to build up in the liver, spleen, or lungs. The brain is eventually affected as well. The perinatal and infancy manifestations are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some cases) pulmonary infiltrates.

A nervous system disorder that causes muscle weakness and impairs physical function. Nerve cells deteriorate in this disease, reducing functionality in the muscles they supply. Muscle twitching, weakness in a limb, and slurred speech are common symptoms of ALS. ALS eventually impairs muscle control, affecting the ability to move, speak, eat, and breathe. This fatal disease has no known cure.

Spina bifida occulta (closed spinal dysraphism) is a failure to close one or several vertebral arches posteriorly; the meningesand spinal cord are normal. A dimple or small lipoma may overlie thedefect, but the skin is intact. Most cases are asymptomatic anddiscovered incidentally during a physical examination for back pain. The neural tube is the structure in a developing embryo that eventually becomes the baby's brain, spinal cord and the tissues that enclose them.

SMA is a genetic disease that affects the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). SMA is a motor neuron disease that involves the loss of nerve cells called motor neurons in the spinal cord. SMN (motor neuron protein) is essential for gene expression in motor neurons. Its deficiency is caused by genetic flaws (mutations) in the SMN1 gene on chromosome 5.

Dystrophy (DMD)- DMD is an X-linked recessive muscular dystrophy causedby mutations in the dystrophin gene. Affecting 1 in 3000 male births,DMD is the most common mutational disease affecting boys. Theincidence of BMD is ∼5 per 100,000.Clinical Features include Proximal muscles, especially the lower extremities, prominently involved in both disorders. Thisbecomes evident in DMD very early; boys with DMD have difficultyclimbing stairs and never run well.

Li-Fraumeni syndrome is a familial cancer syndrome inwhich affected individuals have germline abnormalities of the tumorsuppressorgene p53 and an increased incidence of soft tissuesarcomas and other malignancies, including breast cancer,osteosarcoma, brain tumor, leukemia, and adrenal carcinoma.Li-Fraumeni syndrome is thought to occur in 1 in 5,000 to 1 in 20,000 people worldwide.

Multiple myeloma is a type of cancer that develops in a type of white blood cell known as a plasma cell. Healthy plasma cells aid in the fight against infections by producing antibodies that recognise and attack germs. Cancerous plasma cells accumulate in the bone marrow and crowd out healthy blood cells in multiple myeloma. The global age-standardized rate (ASR) of MM incidence was 1.78 per 100,000 people.

A rare, inherited disorder in which tumours and cysts form in various parts of the body, including the brain, spinal cord, eyes, inner ear, adrenal glands, pancreas, kidney, and reproductive tract. Von Hippel-Lindau syndrome symptoms do not usually appear until young adulthood. It is caused by a change (mutation) in the VHL gene. VHL disease, VHL syndrome, and von Hippel-Lindau disease are all names for this condition.

Thalassemia is an inherited (passed down from parents to children via genes) blood disorder that occurs when the body does not produce enough haemoglobin, a protein that is an essential component of red blood cells. When there is insufficient haemoglobin (carrier of oxygen), the body's red blood cells do not function properly and live for shorter periods of time, resulting in fewer healthy red blood cells in the bloodstream.

Hemophilia is a genetic bleeding disorder in which the blood fails to clot properly. This can result in both spontaneous and post-injury or surgical bleeding. Blood contains numerous proteins known as clotting factors that can aid in the prevention of bleeding. Hemophilia patients have low levels of either factor VIII or factor IX. The less the factor there is, the more likely bleeding will occur, which can lead to serious health problems.

Sickle cell disease develops when a child inherits two abnormal copies of the -globin gene (HBB), which produces haemoglobin, one from each parent. Under certain conditions, this results in a rigid, sickle-like shape. Various health issues may arise, including pain attacks (known as a sickle cell crisis), anaemia, swelling in the hands and feet, bacterial infections, and stroke.

A fatal inherited disorder that affects the lungs and digestive system. Cystic fibrosis affects the cells producing mucus, sweat, and digestive juices. It causes these fluids to thicken and stick together. They then obstruct tubes, ducts, and passageways. Cough, repeated lung infections, inability to gain weight and fatty stools are some symptoms. Treatments may help to alleviate symptoms and reduce complications. Early detection is aided by newborn screening.

Epidermolysis bullosa is a rare skin disorder characterised by fragile, blistering skin. Blisters can result froma minor injury, such as heat, rubbing, or scratching. In severe cases, blisters, such as the mouth or stomach lining, may form inside the body. There is no cure for epidermolysis bullosa, but mild forms may improve with age. The treatment focuses on healing existing blisters and preventing new ones from forming.

Wilson disease is an inherited disorder in which the body accumulates excessive amounts of copper, particularly in the liver, brain, and eyes. Wilson disease is a rare disorder that affects about one in every 30,000 people. Nervous system or psychiatric problems are frequently the first symptoms in adults diagnosed with Wilson disease and are common in young adults.