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Holoprosencephaly

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Holoprosencephaly is an abnormality of brain development in which the brain doesn’t properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant…

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Essential tremor

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Essential tremor is the most common movement disorder. It is characterized by involuntary and rhythmic shaking (tremor), especially in the hands, without any other signs or symptoms. It is distinguished from tremor that results from other disorders or known causes, such as tremors seen with Parkinson disease or head trauma.[1][2] Most cases of essential tremor…

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Horseshoe kidney

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Mucolipidosis type 4

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Mucolipidosis type 4 is a metabolic condition that affects the body’s ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the…

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N-acetylglutamate synthase deficiency

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N-acetylglutamate synthase deficiency (NAGS) is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. When proteins are processed by the body, ammonia is formed. Individuals with NAGS are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up…

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D-bifunctional protein deficiency

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D-bifunctional protein deficiency (DBP deficiency) is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition never gain…

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Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency

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Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency (SAHH deficiency) is a muscle disease associated with high blood levels of methionine and creatine kinase (CK). The main symptoms are psychomotor delay, behavioral disorders, severe myopathy, and delayed myelination from birth. Myelin is the layer covering the axons of nerves and plays an important role in nerve impulse conduction. SAHH deficiency is caused by…

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Bile duct cysts

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Hypogonadism, isolated, hypogonadotropic

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Ichthyosis-intellectual disability-dwarfism-renal impairment

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2278 Definition Ichthyosisintellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Visit the…

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Boerhaave syndrome

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Pleuroparenchymal fibroelastosis

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Infantile spasms broad thumbs

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3173 Definition Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or…

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Dentinogenesis imperfecta type 3

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Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect…

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Infundibulopelvic dysgenesis

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Brittle diabetes

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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…

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Systemic candidiasis

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Systemic candidiasis includes a spectrum of yeast infections caused by different species (types) of Candida.[1] It is a serious infection that can affect the blood, heart, brain, eyes, bones, or other parts of the body.[2] Although there are over 200 species of Candida, five different species of Candida cause 90% of systemic candidiasis.[1][2][3] The most common form of…

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Calabro syndrome

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Kallikrein hypertension

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COG4-CDG (CDG-IIj)

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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….

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Carcinoma of the vocal tract

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Symphalangism with multiple anomalies of hands and feet

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3246 Definition Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or…

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Carnitine-acylcarnitine translocase deficiency

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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…

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Leydig cell hypoplasia

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Leydig cell hypoplasia (LCH) is a disorder that impairs male sexual development. It causes incomplete development of Leydig cells, which are cells in the testicles (testes) that secrete male sex hormones (androgens). These hormones are needed for normal male sexual development as reproductive organs are forming (before birth), as well as during puberty. A genetic male with…

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Cataract, autosomal recessive congenital 2

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Lip and oral cavity cancer

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Methylcobalamin deficiency cbl G type

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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…

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Loeys-Dietz syndrome type 2

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Lymphomatoid granulomatosis

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Lymphomatoid granulomatosis is a rare disorder characterized by an overproduction of white blood cells known as B lymphocytes. These B cells can build up in the tissues of the body, causing damage to the blood vessels.[1] In many cases of lymphomatoid granulomatosis, the abnormal B cells contain the Epstein-Barr virus. The disease is more common…

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Herpesvirus simiae B virus infection

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Microtia-Anotia

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Locked-in syndrome

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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…

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Mansonelliasis

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Chancroid

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Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people who…

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Maxillofacial dysostosis

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Uncombable hair syndrome

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Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It is usually characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age.[1] Most cases are…

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Thiamine responsive megaloblastic anemia syndrome

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Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called “thiamine-responsive” because the anemia can be treated with high doses of vitamin B1 (thiamine). This condition is caused by…

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Ellis-Van Creveld syndrome

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Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of…

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Choroid plexus cyst

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Roy Maroteaux Kremp syndrome

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Chromosome 12p duplication

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Chromosome 12p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…

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Microsporidiosis

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Chromosome 16q duplication

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Mitochondrial DNA depletion syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35698 Definition The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the…

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Chromosome 21, uniparental disomy

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Mucopolysaccharidosis

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Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous…

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Transient neonatal diabetes mellitus

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Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood.[1] Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to…

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Muscular phosphorylase kinase deficiency

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E74.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 715 Definition Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. Epidemiology The disease is very rare with less than 30 patients…

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Chromosome 8q24.3 deletion syndrome

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Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney…

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Myoclonus epilepsy partial seizure

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Neonatal Onset Multisystem Inflammatory disease

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Neonatal onset multisystem inflammatory disease (NOMID) is an inflammatory disorder present from birth (congenital) characterized by tissue damage of the nervous system, skin, and joints. Individuals with NOMID have a skin rash that is present from birth and persists throughout life. Other symptoms may include: headaches, seizures, and vomiting resulting from chronic meningitis (inflammation of the…

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Nestor-guillermo progeria syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280576 Definition Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and…

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Circumscribed cutaneous aplasia of the vertex

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Niemann-Pick disease type C1

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 646 Definition Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis,…

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Cleft lip and palate malrotation cardiopathy

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Nuclear gene-encoded Leigh syndrome

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Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase…

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Okamoto syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2729 Definition Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. Visit…

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Coccygodynia

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Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury. [1]

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Pillay syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2741 Definition Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Epidemiology Three cases in one family have been described so far…

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Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 228423 Definition Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, Band NKcell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral…

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Phocomelia

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Phocomelia is a rare birth defect that can affect the upper and/or lower limbs. In people with this condition, the bones of the affected limb are either missing or underdeveloped. The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk. The involvement of the…

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Mitochondrial complex V deficiency

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Xeroderma pigmentosum, variant type

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Palant cleft palate syndrome

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Unilateral absence of a pulmonary artery

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[if gte mso 9]> Unilateral absence of the pulmonary artery (UAPA) is a heart defect that is present from birth. The pulmonary artery takes blood from the heart to the lungs. In the absence of a pulmonary artery, other blood vessels compensate by supplying blood to the lungs. Pressure can build inside these vessels and…

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Purine nucleoside phosphorylase deficiency

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Purine nucleoside phosphorylase (PNP) deficiency is a disorder of the immune system (primary immunodeficiency) characterized by recurrent infections, neurologic symptoms, and autoimmune disorders. PNP deficiency causes a shortage of white blood cells, called T-cells, that help fight infection. Some people with this condition develop neurologic symptoms, such as stiff or rigid muscles (spasticity), uncoordinated movements (ataxia), developmental delay, and intellectual…

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Perry syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178509 Definition A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. Epidemiology The prevalence is unknown. It has been described in 53 cases from 11 families…

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Polydactyly syndrome middle ray duplication

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Herpes virus antenatal infection

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Prader-Willi habitus, osteopenia, and camptodactyly

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Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures….

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Multisystemic smooth muscle dysfunction syndrome

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Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain…

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Pulmonary artery coming from the aorta

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Warfarin syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1914 Definition Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during…

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PURA syndrome

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PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, moderate to severe intellectual disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. Additional signs and symptoms may include autism; excessive drowsiness; difficulty controlling body temperature; heart, gastrointestinal, eye and hormonal problems; skeletal problems such as an abnormal curvature of the spine…

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Spinocerebellar degeneration and corneal dystrophy

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3177 Definition A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait…

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Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3085 Definition Retinitis pigmentosa intellectual disability deafness hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males…

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Cranio osteoarthropathy

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Richter syndrome

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Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low platelet counts (which can lead to easy bleeding…

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Craniofacial microsomia

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Craniofacial microsomia (CFM) includes several conditions characterized by defects that occur when the fetus is forming within the womb of the mother, in structures known as the “first and second brachial arch”. These structures will develop to form the neck and the head. The first arches produce the lower jaw, two bones inside the ear,…

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Gracile bone dysplasia

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2763 Definition Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. Epidemiology…

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Spinocerebellar ataxia 17

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98759 Definition Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include…

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POEMS syndrome

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POEMS syndrome is a rare, mulitisystem disorder. POEMS stands for the disorder’s features, which may include Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes. Signs and symptoms may include progressive sensorimotor polyneuropathy; enlarged liver, spleen, and/or lymph nodes; a disorder of the endocrine glands (often with multiple abnormalities); a monoclonal plasma cell proliferative disorder; and…

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Corneal dystrophy and perceptive deafness

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1490 Definition Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss. Epidemiology To…

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Schinzel Giedion syndrome

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Schinzel Giedion syndrome (SGS) is a rare, severe condition that is present from birth and affects many parts of the body. Features of SGS include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. Affected children usually do not survive…

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Dermatofibroma

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Dermatofibroma is a common benign skin nodule. It frequently develops on the extremities (most often the lower legs). Although it is generally not associated with any signs or symptoms, some affected people may experience itching and/or tenderness. Dermatofibromas are found in people of all ages and ethnicity and are more commonly diagnosed in women than…

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Hashimoto encephalopathy

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Hashimoto encephalopathy (HE) affects the brain and how the brain works. Symptoms of HE may include behavior changes, confusion, cognitive difficulty, and seizures. Psychosis, including visual hallucinations and paranoid delusions, has also been reported. HE occurs mainly in adults and affects females more than males. The exact cause of HE is not known but may…

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Spondyloepimetaphyseal dysplasia X-linked

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93349 Definition A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion…

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Idiopathic edema

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Idiopathic edema is a common cause of fluid retention and swelling (edema) in women.[1] “Idiopathic” means that the cause of this condition is unknown. Idiopathic edema occurs in the absence of heart, kidney, or liver disease. It is often associated with diabetes, obesity, and emotional problems. The edema may develop periodically or it may persist over time….

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Superior limbic keratoconjunctivitis

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Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects the superior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea).[1][2] It is commonly found in…

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Desbuquois syndrome

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Desbuquois syndrome (DBQD) is a rare type of osteochondrodysplasia (a disorder of the development of bones and cartilage). Characteristics may vary in severity and can include short stature with short extremities, severe joint laxity with dislocation, osteopenia, kyphoscoliosis, distinctive facial characteristics and other abnormalities.[1]Two forms have been distinguished on the basis of the presence (type 1) or…

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Brown-Sequard syndrome

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Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia).[1][2] Brown-Sequard syndrome most commonly occurs in the the thoracic spine…

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Spastic paraparesis

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De Sanctis-Cacchione syndrome

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Ataxia with oculomotor apraxia type 3

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Spondyloepiphyseal dysplasia

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Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from…

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Pretibial epidermolysis bullosa

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Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the “pretibial region”). In some affected people,…

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Amelogenesis imperfecta nephrocalcinosis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1031 Definition A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption,…

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Synovial sarcoma

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Synovial sarcoma is a rare and aggressive soft tissue sarcoma. In the early stages of the condition, it may cause no noticeable signs or symptoms. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if…

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Hepatitis D

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Accessory navicular bone

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An accessory navicular bone is an extra bone or piece of cartilage located in the middle of the foot near the navicular bone, the bone that goes across the foot near the instep. It is present from birth (congenital) and is a common trait.[1][2] The reported incidence differs among populations and ethnic groups, and they…

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