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Brittle diabetes
Brittle diabetes is a term that is sometimes used to describe hard-to-control diabetes (also called labile diabetes). It is characterized by wide variations or “swings” in blood glucose (sugar) in which blood glucose levels can quickly move from too high (hyperglycemia) to too low (hypoglycemia). These episodes are hard to predict and can disrupt quality…
Intrahepatic cholangiocarcinoma
Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who are between 50-70 years…
Kniest dysplasia
Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. It is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered…
COG4-CDG (CDG-IIj)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263501 Definition COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia….
Carnitine-acylcarnitine translocase deficiency
Carnitine-acylcarnitine translocase (CACT) deficiency is a disease that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter (CACT) that…
Microphthalmia with linear skin defects syndrome
Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck.[1][2] The signs and symptoms of this condition may include abnormalities of…
Methylcobalamin deficiency cbl G type
Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition…
Lung adenocarcinoma
Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people…
Megalencephaly-capillary malformation syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 60040 Definition A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities…
Locked-in syndrome
Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles, except for those that control the eyes.[1][2][3][4] People with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. Vertical eye movements and blinking can be used to communicate.[1][2][4][5][6] Locked-in syndrome may be caused by…
Chondrodysplasia with joint dislocations, GPAPP type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280586 Definition Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly,…
Microbrachycephaly ptosis cleft lip
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2511 Definition Microbrachycephalyptosiscleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described…
Pallister-Killian mosaic syndrome
Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of Pallister-Killian mosaic syndrome can vary, although most documented cases of people with…
Microcystic adnexal carcinoma
Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well.[1][2] The average age of diagnosis is 56.[3] This tumor is often first noticed as…
Chromosome 16q deletion
Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur…
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 255229 Definition A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with…
Chromosome 20p duplication
Chromosome 20p duplication is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. In general, smaller…
Mosaic trisomy 7
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Ring chromosome 6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1448 Definition Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed…
Chromosome 8p deletion
Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the…
Richieri Costa Da Silva syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3101 Definition Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature, skeletal abnormalities (including…
Chylous ascites
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1160 Definition Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but…
Verloove Vanhorick Brubakk syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3429 Definition Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of…
Opsismodysplasia
Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a…
Raine syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1832 Definition A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Epidemiology Ten cases in eight families have been reported, the…
Pineoblastoma
Pineoblastoma is a type of cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. Symptoms of pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. Without treatment, pineoblastomas can cause weakness and difficulty controlling movement. The long…
Paget disease of bone
Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect…
Ovarian small cell carcinoma
Ovarian small cell carcinoma is a rare form of ovarian cancer that typically occurs in young women. It is typically an aggressive cancer that can spread (metastasize) to other parts of the body. There are two types of ovarian small cell carcinoma: hypercalcemic and pulmonary.[1] Approximately 2/3 of individuals with ovarian small cell carcinoma have…
Parkes Weber syndrome
Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels. The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially…
Factor XIII deficiency
Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to…
Progressive deafness with stapes fixation
Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes.[1][2] The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves…
Microgastria limb reduction defect
Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. Abnormalities involving the heart, lungs, kidney and gastrointestinal system are also symptoms of this condition. This condition is caused by an…
Reducing body myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97239 Definition Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. Epidemiology The prevalence is unknown: although some sporadic…
Reticulohistiocytoma
Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis.[1][2] Histiocytosis is a condition in which there is rapid production (proliferation) of histiocytes (immune cells) in the skin or soft tissues.[3] The stimulus that causes…
Corneal dystrophy crystalline of Schnyder
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98967 Definition Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. Epidemiology…
Coxoauricular syndrome
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Spinocerebellar ataxia autosomal recessive 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 95434 Definition A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents…
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71212 Definition Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. Epidemiology…
Oculocerebral syndrome with hypopigmentation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2719 Definition Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and…
Short stature deafness neutrophil dysfunction
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2866 Definition A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further…
Tendons, extensor, of fingers, anomalous insertion of
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3294 Definition Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral…
Hashimoto-Pritzker syndrome
Hashimoto-Pritzker disease, also known as congenital self-healing reticulo-histiocytosis, is a very rare disease characterized by single or multiple red-purple or brown pimples (papules) and lumps (nodules) present at birth (congenital) or soon thereafter. Classic signs and symptoms include congenital or early development of painless papules, nodules or plaques with spontaneous regression in 2-3 months, and increase…
CYP2C19-related poor drug metabolism
CYP2C19-related poor drug metabolism is a condition in which the body is unable to properly process certain types of medications such as clopidogrel, mephenytoin, omeprazole, and/or proguanil. As a result, these medications are less effective in affected people who are treated with them. The condition is caused by changes (mutations) in the CYP2C19 gene and…
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3011 Definition A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976….
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia.[1] These features have lead to the acronym ANOTHER syndrome…
Dermochondrocorneal dystrophy of François
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79149 Definition Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on…
Sulfite oxidase deficiency
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De Quervain’s disease
De Quervain’s disease is a painful wrist condition that affects the tendons on the thumb side of the wrist (the radial side).[1] Symptoms may include pain or tenderness when moving the thumb, turning the wrist, grasping something, or making a fist.[1][2] Pain may radiate to the thumb or forearm. Some people have swelling on the…
Abdominal aortic aneurysm
Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the…
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either…
Thoraco abdominal enteric duplication
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1759 Definition Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the…
Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism.[1] The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia.[2][3] IBD deficiency is caused by mutations in the ACAD8 gene.[1][2] It is inherited in an autosomal recessive manner.[2][3] Treatment may include the use of L-carnitine…
Gastroparesis
Gastroparesis, or delayed gastric emptying, is a disorder where the food does not move or moves very slowly from the stomach to the small intestine. In gastroparesis, the muscles of the stomach do not work well and digestion takes an abnormally long time. Symptoms of gastroparesis include bloating, nausea, vomiting, weight loss due to poor absorption of nutrients,…
Fetal retinoid syndrome
Fetal retinoid syndrome is a characteristic pattern of physical birth defects in a baby that has been exposed to retinoids during pregnancy. The best-known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne.[1] Babies exposed to retinoids during pregnancy may have a wide variety of symptoms. Some may have no symptoms at all, others…
VACTERL hydrocephaly
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Pyramidal molars-abnormal upper lip syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2561 Definition A rare syndrome characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont…
Dicarboxylic aminoaciduria
Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases.[1][2] Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.[2]
Walker Dyson syndrome
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Acrodermatitis enteropathica
Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances…
Zika virus infection
Zika virus infection is spread to people primarily through the bite of an infected mosquito. Zika virus can also be spread from a pregnant mother to her child and through sexual contact with an affected partner. Cases of Zika virus transmission via blood transfusion have also been reported.[1] Zika virus outbreaks are currently occurring in…
Welander distal myopathy, Swedish type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 603 Definition A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle…
Rare Hematology News