Neuromyelitis optica spectrum disorders (NMOSD) affect the spinal cord and optic nerves (nerves that carry visual messages to and from the brain). Symptoms include pain, weakness, bowel and bladder problems, and temporary vision loss. NMOSD usually occurs in adulthood, but symptoms may start at any age. Some people have a single attack of symptoms lasting months, but…

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two…

Multiple endocrine neoplasia, type 1 (MEN1) causes the growth of tumors in both the endocrine system (the body’s network of hormone-producing glands) and non-endocrine system. Symptoms of MEN1 include tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often “functional” and secrete excess…

MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations in the MYH9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. Young-adult onset high frequency sensorineural hearing loss, presenile (early) cataract, and kidney disease…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1146 Definition Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or…

Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The severe form is usually…

Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however,…

Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision,…

Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 616 Definition Medulloblastoma (MB) is an embryonic tumor of the neuroepithelial tissue and the most frequent primary pediatric solid malignancy. MB represents a heterogeneous group of cerebellar tumors characterized clinically by increased intracranial pressure and…

Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides).[1][2] Specifically, people with this condition are unable to break down a GAG called heparan sulfate.[2] Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 521 Definition Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases. Epidemiology Its annual incidence has been estimated at between 1 and 1.5 cases per 100,000 and…

Soft tissue sarcoma is a form of cancer that occurs due to abnormal and uncontrolled cell growth of the “soft tissues” of the body. These tissues connect, support and surround other body parts and may include muscle, fat, blood vessels, lymph vessels, nerves, tendons and the lining of joints. Many people with early soft tissue…

Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the…

Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape and symmetry of the head and face. Other features may include webbing of certain fingers or toes (syndactyly), small or unusually shaped ears, short stature, and…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1203 Definition Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen. Epidemiology The incidence of duodenal atresia is between 1/10,000 and 1/6,000 live births, with…

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma, however, severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99842 Definition Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections. Epidemiology LAD-I affects 1 individual per million. Clinical description Usually the first signs…

Merkel cell carcinoma (MCC) is a rare, aggressive skin cancer. It usually develops as a single, painless, bump on sun-exposed skin. The bump may be skin-colored or red-violet, and tends to grow rapidly over weeks to months. It may spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Factors associated with…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2023 Definition An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by…

Meningiomas are tumors that originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are not cancerous (benign), though a minority of meningiomas can be classified as atypical or cancerous (malignant).[1][2] Though rare, malignant meningiomas can be highly aggressive.[2] However, even benign meningiomas can cause problems if their growth affects neighboring…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90793 Definition A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. Epidemiology It accounts for approximately 1% of all CAH cases. The prevalence is therefore…

Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of neutrophils (a type of white blood cell) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms of cyclic neutropenia may include fever, a general feeling of ill health, and/or sores (ulcers)…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99789 Definition Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth. Epidemiology Prevalence of DD-I is reported to be…

Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has…

Sudden sensorineural deafness is a condition that is characterized by rapid, unexplained hearing loss. More specifically, affected people experience a reduction in hearing of greater than 30 decibels, which may occur all at once or over several days. In most cases, only one ear is affected. People with sudden sensorineural deafness often become dizzy, have…

Early-onset generalized dystonia is a neurologic movement disorder that usually begins in childhood or adolescence. This is the most common hereditary form of dystonia.[1] Symptoms start in one part of the body (usually an arm, foot, or leg) and are usually first apparent with actions such as writing or walking. With time, the contractions may spread…

Adult-onset Still’s disease (AOSD) is an inflammatory condition that affects multiple organs. The most common symptoms are high fevers, skin rash, arthritis, and high levels of ferritin, a protein that stores iron in the blood. Other symptoms include an enlarged spleen and lymph nodes, joint pain, and sore throat. In some cases, symptoms may be…

EEC syndrome (Ectrodactyly-Ectodermal DysplasiaCleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary…

Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature,…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 36899 Definition Myoclonusdystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with ‘lightning-like’ myoclonic jerks. Epidemiology The estimated prevalence of MDS in Europe is 1/500,000. Clinical description Disease onset…

Alpha-thalassemia is a blood disorder that reduces the body’s production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome…

Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and…

Cat scratch disease (CSD) is a bacterial infection that primarily affects the lymph nodes. It is typically caused by the bacteria bartonella (Bartonella henselae). It is usually transmitted by being scratched or bitten by a cat, but rarely, no scratch or bite is involved.[1] Symptoms frequently include the formation of a small bump at the site of…

A schwannoma is a tumor of the peripheral nervous system or nerve root. A schwannoma develops from cells called Schwann cells, a type of cell that wraps itself around peripheral nerves and provides protection and support. Schwannomas are almost always benign (not cancerous), but rarely, may become cancerous (a malignant schwannoma).[1][2] Symptoms of a schwannoma…

Limb-girdle muscular dystrophy type 2B (LGMD2B) is one type of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting (atrophy) of the pelvic…

Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than…

Congenital myasthenic syndromes (CMS) are a group of genetic conditions that all include muscle weakness that gets worse with physical activity. [1][2][3][4] There are many subtypes of CMS with different symptoms, severity, and treatments. Most people with CMS develop symptoms in infancy or by early childhood, but the age at which symptoms begin can vary. Symptoms…

Congenital fibrosis of extraocular muscles (CFEOM) refers to a group of rare conditions that affect the normal development and function of the muscles that control eye movement and position. In general, people affected by these conditions are unable to move their eyes in certain directions and often have strabismus and/or droopy eyelids (ptosis); however, the severity…

Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia).[1] The signs and symptoms of the disease may vary greatly from person to person….

Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria….

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by early…

AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL…

Alström syndrome is a rare genetic disorder that affects many body systems.[1][2] Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney…

Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. Vision loss is due to retinitis pigmentosa. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision….

Primary biliary cholangitis (PBC) is a chronic, progressive liver disease in which the bile ducts become inflamed and damaged.[1][2][3] This leads to the buildup of bile and causes liver problems such as scarring, cirrhosis (scarring and poor liver function), and eventual liver failure.[1] PBC is more common in women.[1][3][4] Many people do not have symptoms when…

Fuchs heterochromic iridocyclitis (FHI) is an unusual form of chronic (long-lasting) uveitis. Uveitis is swelling and irritation of the middle layer of the eye. Diagnosis of FHI is considered in people with floaters, vision loss, and heterochromia. FHI often affects young adults and most often involves a single eye. People with FHI are at risk…

Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements (ataxia), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis…

Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.[1] Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93473 Definition Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 119 Definition A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvicand shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually…

Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine.[1] It is reportedly most likely benign, unrelated to significant signs or symptoms.[2][3][4] A number of children have been detected by newborn screening and have remained symptom-free.[5] Some reports have associated sarcosinemia with various symptoms…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 42062 Definition Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is…

Lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), or LAM, is a rare cystic lung disease that mostly affects women in their mid-forties. In LAM, an unusual type of cell begins to grow out of control throughout the body, including in the lungs, lymph nodes and vessels, and kidneys. Over time, these LAM cells form cysts and clusters of cells, which…

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Cowden syndrome is an inherited condition that is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. People with the syndrome usually have large head (macrocephaly), benign tumors of the hair follicle (trichilemmomas), and white papules with a smooth surface in the mouth (papillomatous papules), starting by the late 20s. It is considered part…

Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy…

Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower…

Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100070 Definition Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively…

Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with…

Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. The muscles affected by polymyositis are the skeletal muscles (those involved with making movements) on both sides of the body. Although the disease can affect people of all ages, most cases are seen in adults between…

Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax.[1] Achalasia is…

ACTH-secreting pituitary adenoma is a condition characterized by elevated levels of a hormone called cortisol secreted by a tumor in the pituitary gland. It is part of a group of diseases that cause Cushing’s syndrome, characterized by signs and symptoms that may include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on…

Amyotrophic lateral sclerosis (ALS), also referred to as “Lou Gehrig’s disease,” is a progressive motor neuron disease which leads to problems with muscle control and movement.[1][2] There are various types of ALS that are distinguished by symptoms and, in some cases, genetic cause.[2] Early symptoms may include muscle twitching, cramping, stiffness, or weakness, slurred speech,…

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 404 Definition Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism. Epidemiology PA is the most common form of secondary…

Gastrointestinal stromal tumors (GIST) are a type of soft tissue tumor that usually begin in specialized nerve cells in the wall of the stomach, intestines, or rectum, known as interstitial cells of Cajal. GIST may be noncancerous (benign) or cancerous (malignant). If cancerous, the tumor may also be called a soft tissue sarcoma. Symptoms depend on the location,…

Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. In people with LCH, these cells multiply excessively and build up…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 30391 Definition Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in…

Caudal regression sequence (CRS) affects the development of the lower (caudal) half of the body. It can impact the development of the lower back, spinal cord, and lower limbs. The kidneys, bladder, digestive tract, and genitalia may also be affected. CRS occurs during fetal development and is present at birth. The features and severity vary from…

Lowe oculocerebrorenal syndrome is a rare condition that primarily affects the eyes, central nervous system and kidneys. Some of the signs and symptoms associated with the condition are often present from birth, including congenital cataracts and other eye abnormalities; hypotonia (reduced muscle tone); and feeding difficulties. Affected people may also experience kidney problems (such as…

Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; persistent coughing; frequent lung infections; wheezing or shortness of breath; poor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility. Over time,…

Multiple endocrine neoplasia type 2 (MEN2) is an inherited disorder in which one or more of the endocrine glands are overactive or form a tumor. Endocrine glands most commonly involved include:[1] Adrenal (about half the time) Parathyroid (20% of the time) Thyroid (almost all of the time) MEN2 is caused by a defect in the RET gene.[1][2] This defect…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 289560 Definition A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic…

Multiple system atrophy (MSA) causes the progressive loss of nerve cells in the brain (a neurodegenerative disease). MSA affects several areas of the brain, including the cerebellum, which is involved in controlling movement and some emotions, as well as certain types of learning and memory, and the autonomic nervous system, which controls your body’s automatic, or…

Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system). The main signs and symptoms of NF1 include dark colored spots on the skin (café-au-lait spots), benign growths along the nerves (neurofibromas), and freckles in…

Hemophilia A is an inherited bleeding disorder in which the blood does not clot normally.[1][2][3] People with hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury…

Leishmaniasis is a parasitic disease spread by the bite of infected sand flies. There are several different forms of leishmaniasis. The most common are cutaneous and visceral. The cutaneous type causes skin sores. The visceral type affects internal organs such as the spleen, liver and bone marrow. People with this form usually have fever, weight…

Diastrophic dysplasia is a disorder of cartilage and bone development.[1] Diastrophic dysplasia is characterized by shortened arms and legs, spinal deformities, hitchhiker thumbs, joint contractures, and joint pain (osteoarthritis).[2] Joint contractures and spinal deformity tend to worsen with age.[2] Mental development and intelligence are usually normal.[2] Occasionally, children with diastrophic dysplasia die in infancy due…

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Wiskott Aldrich syndrome (WAS) is a disease with immunological deficiency and reduced ability to form blood clots. Signs and symptoms include easy bruising or bleeding due to a decrease in the number and size of platelets; susceptibility to infections and to immune and inflammatory disorders; and an increased risk for some cancers (such as lymphoma). Also, a skin condition known as eczema is common in people…

Anaplastic thyroid cancer (ATC) accounts for less than 2% of all thyroid cancers and is the most aggressive type of thyroid cancer.[1] Most cases of anaplastic thyroid cancer are diagnosed in the sixth to seventh decade of life. Women are more likely to be affected than men.[1] ATC generally occurs in individuals with a history…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2019 Definition Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with…

Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). The most obvious and frequent symptom of…

Central diabetes insipidus (DI) is a form of DI that occurs when the body has lower than normal levels of antidiuretic hormone (vasopressin), which is characterized by frequent urination.[1][2] Diabetes insipidus is subdivided into central and nephrogenic DI. Two other forms are gestational DI and primary polydipsia (dipsogenic DI). Central DI results from damage to the…

Trisomy 13 is a type of chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. In some people, only a portion of cells contains the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosome pair.[1][2][3] Trisomy 13 causes…

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) affects the adrenal glands which are responsible for producing specific hormones. There are two types of classic 21-OHD CAH, the salt-wasting form and the simple-virilizing form. Symptoms include abnormal development of the external sex organs in females (ambiguous genitalia), early puberty, and short stature. The…

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Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen)….

Erythropoietic protoporphyria (EPP) is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by pathogenic variants (mutations) in the FECH gene which lead to an impaired…

Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience “photosensitivity,” which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor…

Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time.[1] Early…

Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood.[1] Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over…

Addison’s disease occurs when the adrenal glands do not produce enough (or any) of the hormones, cortisol and aldosterone. These adrenal gland hormones are necessary for balancing water and energy in the body. Symptoms usually develop slowly over time, and may include fatigue, loss of appetite, abdominal pain, and dark patches of skin. Sometimes symptoms…

Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the spongy tissue tissue inside the bone (bone marrow), the tissue that contains the stem cells that will produce blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. In myelofibrosis, the bone marrow…

Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa. Sensorineural hearing means it is caused by abnormalities of the inner ear. Retinitis pigmentosa is an eye disease that affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss…

Familial or sporadic hemiplegic migraine refers to a rare type of migraine with aura that occurs with motor weakness during the aura. The two types of hemiplegic migraine (HM) are distinguished based on the family history: familial hemiplegic migraine (FHM, in which at least one other family member has the condition) and sporadic hemiplegic migraine (SHM, in which there is no…

Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal…

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93476 Definition Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease,…