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Multicentric osteolysis, nodulosis and arthropathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 371428DefinitionA rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.EpidemiologyMulticentric osteolysis-nodulosis-arthropathy (MONA) spectrum prevalence and incidence…
Ring chromosome 3
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Syndactyly type 9
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 157801 Definition Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated…
Chromosome 6q25 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251056 Definition 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. Epidemiology It has been clinically and molecularly characterized in 4 patients. Clinical description All of them…
Muscular dystrophy, congenital, merosin-positive
The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD)…
Non 24 hour sleep wake disorder
Non 24 hour sleep wake disorder refers to a steady pattern of oneto two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person’s sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired…
Neuroendocrine tumor
A neuroendocrine tumor (NET) is a rare type of tumor that arises from specialized body cells called neuroendocrine cells. These cells have traits of both nerve cells and hormone-producing cells, and release hormones into the blood in response to signals from the nervous system.[1][2] Because a neuroendocrine tumor arises from cells that produce hormones, the…
Hemochromatosis type 1
Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms…
Nodding syndrome
Nodding syndrome is a rare form of epilepsy that occurs in children between the ages of 5 and 16. It is seen almost exclusively in children living in specific regions of Tanzania, Uganda and the Republic of South Sudan. Signs and symptoms of the condition include head nodding, seizures, stunted growth, and deterioration of cognitive…
Microphthalmia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2542 Definition A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye,…
Oculodentodigital dysplasia
Oculodentodigital dysplasia is a condition that affects many parts of the body, including the eyes (oculo-), teeth (dento-), and fingers (digital). Symptoms of the condition include having small eyes, vision loss, missing teeth, frequent cavities, and bony growths in the fingers. The condition is caused by a mutation in GJA1 and is most typically inherited…
COASY Protein-Associated Neurodegeneration
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 397725 Definition COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria,…
Osteogenesis imperfecta type VI
Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct “fish-scale” pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6…
Phacomatosis pigmentokeratotica
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Cytochrome c oxidase deficiency
Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. There are four types of COX deficiency differentiated by symptoms and age of onset: benign infantile mitochondrial type, French-Canadian type, infantile mitochondrial myopathy type, and Leigh syndrome.[1] The range and…
Otofaciocervical syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2792 Definition Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and…
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…
Papillary glioneuronal tumors
Papillary glioneuronal tumors (GNTs) are rare tumors. They may occur in any age (4–75 years), but are more common in young patients.[1] Symptoms may include seizures, headaches, bleedings, and focal neurological deficits, impairing specific and small parts of the body.[1][2] According to the 2016 WHO classification of CNS tumors the papillary GNTs are considered WHO…
Hereditary folate malabsorption
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90045 Definition Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis,…
Pearson syndrome
Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets. Having too few red blood cells (anemia), white blood cells (neutropenia), or platelets (thrombocytopenia) can cause a…
Glutamine deficiency, congenital
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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…
Costocoracoid ligament congenitally short
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2391 Definition Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of…
Primary hyperaldosteronism
Primary hyperaldosteronism is a disorder caused by excess production of the hormone aldosterone by the adrenal glands. The main symptom of primary hyperaldosteronism is high blood pressure (hypertension), but other symptoms may include headaches, weakness, swelling (edema), and muscle spasms (tetany). The cause of primary hyperaldosteronism can vary. One cause may be an adenoma, or…
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…
Cortical defects wormian bones and dentinogenesis imperfecta
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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…
Dandy-Walker like malformation with atrioventricular septal defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 7 Definition Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot,…
Spinal atrophy ophthalmoplegia pyramidal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1217 Definition Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have…
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…
Cutaneous mastocytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79455 Definition Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast…
Harrod Doman Keele syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2115 Definition Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes…
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…
Intellectual disability hypoplastic corpus callosum preauricular tag
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1495 Definition Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients…
Glucose transporter type 1 deficiency syndrome
Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microcephaly (unusually small head size) that develops after birth, developmental…
Hydrocephalus-cleft palate-joint contractures syndrome
Hydrocephaluscleft palate-joint contractures syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker malformation, cleft palate, and stiff or “frozen” joints (contractures). Less than 20 cases of hydrocephalus-cleft palate-joint contractures syndrome have been reported. Other symptoms might include: thin fingers with absent knuckles 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….
Absence of tibia with polydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 988 Definition Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked interand intrafamilial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in…
Sulfite oxidase deficiency
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Erythrokeratoderma ”en cocardes”
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 315 Definition A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or ‘en cocardes’) plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent…
Aplasia cutis congenita intestinal lymphangiectasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1116 Definition An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as…
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…
Acrorenal mandibular syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 958 Definition A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive…
VACTERL hydrocephaly
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Walker Dyson syndrome
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DOCK2 Deficiency
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Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals. AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding…
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…
Double inferior vena cava
Double inferior vena cava is a vein abnormality that is present from birth (congenital). Individuals with this anomaly have two inferior vena cavas instead of one. The inferior vena cava carries oxygen-poor blood from the lower parts of the body into the heart. Double inferior vena cava does not cause any symptoms. It is usually diagnosed…
Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia. Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected. The…
Dysosteosclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1782 Definition Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. Epidemiology Less than 30 cases have been reported in the literature to date. Clinical description The disease is characterized by sclerosis of…
Adult neuronal ceroid lipofuscinosis
Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms:[1][2][3] Type…
Loiasis
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Erdheim-Chester disease
Erdheim-Chester disease (ECD) is a rare condition that can affect many parts of the body.[1] It has been diagnosed in children, but it most commonly affects adults.[2] ECD causes the over-production of immune cells called histiocytes, which then accumulate in tissues and organs in the body. Parts of the body that may be involved include the long…
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood (AHC) is a neurological disorder that usually affects children before 18 months of age. Classic AHC causes recurrent episodes of paralysis (hemiplegia) that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for…
Alopecia-contractures-dwarfism-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1005 Definition A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual…
Fibrolamellar carcinoma
Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The…
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence.[1][2] The eye abnormalities seen in this condition seldom lead…
Ampola syndrome
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Imperforate anus
Imperforate anus is a birth defect where the opening to the anus is missing or blocked. The anus, also known as the rectum, is the opening at the end of the intestines through which stool (bowel movement) leaves the body. Imperforate anus may end in a pouch, be too narrow (stenotic or atresic), or open into…
Osteoglophonic dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2645 Definition A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. Epidemiology Less than ten cases have been reported so far. Clinical description Main clinical features include craniosynostosis, acrocephaly, a prominent…
X-linked sideroblastic anemia
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in…
Familial hyperaldosteronism type III
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251274 Definition Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia. Epidemiology…
Gillespie syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1065 Definition A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. Epidemiology To date, less than 30 patients have been reported in the literature….
Intestinal atresia multiple
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2300 Definition Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction:…
Paroxysmal extreme pain disorder
Paroxysmal extreme pain disorder is a form of peripheral neuropathy characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. Early in life, the pain is often concentrated in the lower part of the body and may be triggered by a bowel movement. As a person ages,…
Sutton disease 2
Sutton disease 2, also known as recurrent aphthous stomatitis, is a chronic inflammatory disease characterized by painful ulcers in the mouth.[1][2] These sores, which can be of varying size and frequency, are commonly called canker sores. The exact cause of this condition is not fully understood, although it may be due to an abnormal immune response.[2]…
Renal tubular acidosis with deafness
Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of…
Rare Gastroenterology News