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Dilated cardiomyopathy
Dilated cardiomyopathy (DCM) is a disease of the heart muscle which primarily affects the heart’s main pumping chamber, the left ventricle.[1] It is the most common type of cardiomyopathy and typically affects those aged 20 to 60.[2] The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much…
Hemihypertrophy
Hemihypertrophy is a condition in which there is excessive (hyper) growth (trophy) of only one side (hemi) of the body, the right side or the left side. Overgrowth may affect only one part of the body, such as a leg or arm, or several different areas of the body. It may not be apparent at…
Delayed membranous cranial ossification
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3034 Definition Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal…
Accessory pancreas
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 674 Definition A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely,…
ADULT syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 978 Definition A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Visit the Orphanet…
Parapsoriasis
Parapsoriasis describes a group of skin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation…
Distal renal tubular acidosis with hemolytic anemia
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Adenosine Deaminase 2 deficiency
Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). [1][2] Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain,…
X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndrome (XLP) is an immune system disorder that occurs almost exclusively in males. People with XLP have an increased risk of infection because their body cannot properly regulate the number of immune system cells (lymphocytes) and blood cells. The symptoms associated with XLP vary from person to person, and even among family members. In most…
Bleeding disorder due to P2RY12 defect
Bleeding disorder due to P2RY12 defect affects the way the platelets function. Platelets are important for helping the blood to clot. Symptoms of a bleeding disorder due to P2RY12 defect include frequent nose bleeds, easy bruising, and excessive bleeding after surgery or an accident. These symptoms can vary from person to person. This condition is…
Autosomal dominant tubulointerstitial kidney disease due to REN mutations
Autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN) is an inherited disorder that causes anemia, mildly low blood pressure, and an increased chance to develop kidney failure in childhood. In the teenage years, patients may develop a painful type of arthritis called gout. As an adult, the anemia improves but patients develop slowly…
Ectodermal dysplasia skin fragility syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 158668 Definition Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering. Epidemiology Prevalence is unknown…
Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome is an inherited disease that mainly affects the brain, immune system, and the skin.[1] Loss of white matter in the brain (leukodystrophy) and abnormal deposits of calcium (calcification) in the brain leads to an early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability.[2] Additional symptoms may include epilepsy,…
ALG3-CDG (CDG-Id)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79321 Definition A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported….
Eosinophilic cystitis
Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for…
Caspase-8 deficiency
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Amish Nemaline Myopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98902 Definition A type of nemaline myopathy (NM) only observed in several families of the Amish community. Clinical description It has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus…
Hereditary neuralgic amyotrophy
Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the group of nerves that control movement in the arms and shoulders called the brachial plexus. Signs and symptoms usually begin around 20 years of age and may include episodes of severe pain and muscle loss in one or both shoulders and arms. These…
Familial hypocalciuric hypercalcemia type 3
Familial hypocalciuric hypercalcemia (FHH) type 3 is one of three recognized types of FHH, an inherited condition that causes abnormally high levels of calcium in the blood (hypercalcemia). FHH also causes high levels of parathyroid hormone (PTH) and low levels of calcium in the urine (hypocalciuria). In most cases, FHH does not cause signs or symptoms.[1] However,…
Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb…
Scheuermann disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3135 Definition Familial Scheuermann disease is characterized by kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl’s nodes, disk-space narrowing, and vertebral…
Aortic arch anomaly peculiar facies intellectual disability
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1110 Definition A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears,…
Progestogen hypersensitivity
Progestogen hypersensitivity causes a skin reaction that typically occurs during a woman’s menstrual cycle. Symptoms usually begin 3-10 days before a woman’s period and go away when her period is over. Skin symptoms may include rash, swelling, itching, hives, and red, flaky patches. More severe symptoms can include open sores, wheezing, and an asthma-like reaction. Progestogen hypersensitivity…
Microphthalmia microtia fetal akinesia
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Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101097 Definition A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. Epidemiology ARCMT2K was originally described in three Spanish families and has since been described in five additional Spanish kindreds, as well as in…
Fibromuscular dysplasia
Fibromuscular dysplasia (FMD) is a condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected….
Gyrate atrophy of choroid and retina
Gyrate atrophy of the choroid and retina is an inherited disorder of protein metabolism characterized by progressive vision loss. Symptoms such as nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision develop during childhood. Over time, the field of vision progressively narrows, resulting in tunnel vision. Cataracts may also develop….
Glucose-6-phosphate dehydrogenase deficiency
Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. It occurs when a person is missing or has low levels of the enzyme glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells work properly. Symptoms during…
Spinocerebellar ataxia X-linked type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85297 Definition X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading…
Horizontal gaze palsy with progressive scoliosis
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or…
Worth type autosomal dominant osteosclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2790 Definition Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of…
Lactate dehydrogenase A deficiency
Lactate dehydrogenase A deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. People with this condition experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria…
Autosomal recessive palmoplantar keratoderma and congenital alopecia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1366 Definition Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. Epidemiology To…
Osteomesopyknosis
Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in…
Congenital intrauterine infection-like syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1229 Definition Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine…
Hepatopulmonary syndrome
Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen…
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2590 Definition Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of…
His bundle tachycardia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3283 Definition His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality. Visit the Orphanet disease page for more resources.
Cataract ataxia deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1368 Definition Cataractataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. Visit the Orphanet…
Benign mesonephroma
Benign mesonephroma (Wolffian tumors or Wolffian duct adenomas) are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a…
Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder…
X-linked periventricular heterotopia
X-linked periventricular heterotopia or FLNA-related periventricular nodular heterotopia is a genetic disorder in which nerve cells in the brain do not migrate properly during early fetal development (a neuronal migration disorder). It is characterized by the presence of clumps of neurons near the brain’s ventricles. Most people with this disorder are female, as it can be lethal in males. Symptoms typically…
Portal hypertension
Portal hypertension is abnormally high blood pressure in branches of the portal vein, the large vein that brings blood from the intestine to the liver. Portal hypertension itself does not cause symptoms, but complications from the condition can lead to an enlarged abdomen, abdominal discomfort, confusion, drowsiness and internal bleeding. It may be caused by a variety…
Microcephalic primordial dwarfism, Montreal type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2617 Definition A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or…
Ichthyosis prematurity syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88621 Definition Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia….
Blount disease
Blount disease is a growth disorder of the shin bone (tibia) characterized by inward turning of the lower leg (bowing) that slowly worsens over time. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age.[1][2] There are two types of Blount disease (early-onset and late-onset), based on…
Infantile cerebellar retinal degeneration
Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes.[1][2] Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells…
IL12RB1 deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 319552 Definition Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent…
Brachydactyly preaxial with hallux varus and thumb abduction
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Infectious arthritis
Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected.[1] Certain bacteria can cause a form of infectious arthritis called reactive arthritis, which appears to be caused by…
Nicolaides-Baraitser syndrome
Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is…
Deafness, dystonia, and cerebral hypomyelination
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 369942 Definition CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal…
Juvenile ossifying fibroma
Juvenile ossifying fibroma (JOF) is rare, benign tumor of the craniofacial (skull and face) bones. It is considered a “fibro-osseous neoplasm” because it is characterized by an overgrowth of bone. Affected people generally experience a gradual or rapid, painless expansion of the affected bone or region. Other symptoms such as exophthalmos or nasal blockage can…
La Crosse encephalitis
La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states.[1] The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-100 cases of this condition are…
Naxos disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34217 Definition A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. Epidemiology Naxos was first described in families originating from the Greek…
DDOST-CDG (CDG-Ir)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 300536 Definition DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)….
TMEM165-CDG (CDG-IIk)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 314667 Definition TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal…
Lethal congenital contracture syndrome 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1486 Definition Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple…
Cataract microcornea syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1377 Definition Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Epidemiology To date, more than 15 families showing microcornea-cataract syndrome have been described. Clinical…
Levator syndrome
Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in…
Rare Psychiatry News