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Chiari malformation type 1
Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance, and the skull. The malformation occurs when the lower part of the cerebellum extends below the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving…
Primary pigmented nodular adrenocortical disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189439 Definition Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to…
Frontometaphyseal dysplasia
Frontometaphyseal dysplasia (FMD) is a genetic disorder characterized by abnormalities in skeletal development and problems in other organs of the body.[1][2] It is part of a group of diseases called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. In general, these disorders involve hearing loss (due…
Astroblastoma
Astroblastoma is a rare glial tumor usually located in the cerebral hemisphere of the brain.[1] It can occur in individuals of any age, but occurs predominantly in children and young adults.[2] Signs and symptoms depend on the location and size of the tumor but most commonly include headaches and seizures.[1] Because these tumors are rare,…
Rosai-Dorfman disease
Rosai-Dorfman disease was first described by Rosai and Dorfman in 1969.[1] It is a benign disease which is characterized by over-production and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body, most often those of the neck (cervical).[2] Other lymph node groups may also be involved and, in some cases, abnormal accumulation…
Autoimmune atrophic gastritis
Autoimmune atrophic gastritis is a chronic inflammatory disease in which the immune system mistakenly destroys a special type of cell (parietal cells) in the stomach. Parietal cells make stomach acid (gastric acid) and a substance our body needs to help absorb vitamin B12 (called intrinsic factor). The progressive loss of parietal cells may lead to iron deficiency…
Rosette-Forming Glioneuronal Tumor
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251975 Definition Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette(or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs…
Serpiginous choroiditis
Serpiginous choroiditis is a rare inflammatory eye condition that typically develops between age 30 and 70 years.[1] Affected individuals have lesions in the eye that last from weeks to months and involve scarring of the eye tissue.[2] Recurrence of these lesions is common in serpiginous choroiditis. Vision loss may occur in one or both eyes when the macula is involved. [3] Treatment options involve…
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70595 Definition Sensory ataxic neuropathydysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. Epidemiology The prevalence is unknown. Clinical description Other common features include progressive gait unsteadiness, absent…
Spinocerebellar ataxia 40
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 423275 Definition Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular…
I cell disease
Mucolipidosis II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids).[1] Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers.[2] ML II…
Spondyloepimetaphyseal dysplasia, Aggrecan type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171866 Definition Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Epidemiology To date, three cases have been described, all originating from…
Griscelli syndrome type 1
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B4GALT1-CDG (CDG-IId)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79332 Definition B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with…
Tetramelic monodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2564 Definition Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the…
Lymphedema-distichiasis syndrome
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this syndrome have extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs, most often the legs and feet. The abnormal eyelashes,…
Spondylometaphyseal dysplasia corner fracture type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93315 Definition Spondylometaphyseal dysplasia, ‘corner fracture’ type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated ‘corner fractures’ of long tubular bones and vertebral body abnormalities (mostly oval vertebral…
Hernández-Aguirre Negrete syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2139 Definition Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys…
BENTA disease
BENTA disease (B cell Expansion with NF-κB and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several…
Trichorhinophalangeal syndrome type 3
Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder.[1] TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).[2][3] The range and severity of symptoms may vary from case…
Mowat-Wilson syndrome
Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. Some of the main features include intellectual disability, distinctive facial features, delayed development, and Hirschsprung disease. Other features may include microcephaly, structural brain abnormalities, epilepsy, short stature, and defects of the heart, urinary tract, or genitalia.[1][2] MWS is caused by a mutation in the ZEB2…
Behavioral variant of frontotemporal dementia
Pick’s disease is a neurological condition characterized by a slowly progressive deterioration of behavior, personality, or language.[1] People with Pick’s disease have abnormal substances (called Pick bodies) inside nerve cells in the damaged areas of the brain. Pick bodies contain an abnormal form of a protein called tau. This protein is found in all nerve cells, but…
Best vitelliform macular dystrophy
Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected.[1] BVMD is characterized…
Xanthinuria type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93602 Definition Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde…
Lenz Majewski hyperostotic dwarfism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2658 Definition An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. Epidemiology Nine cases have been reported in the literature. Clinical description Marked hypertelorism and broad forehead are noted…
Kluver Bucy syndrome
Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes…
Hypoganglionosis
Hypoganglionosis, also known as intestinal hypoganglionosis, is a disorder causing a reduced number of nerves in the intestinal wall. Intestinal hypoganglionosis can mimic Hirschsprung disease; patients with both conditions may present with chronic constipation, intestinal obstruction, and enterocolitis (inflammation of the intestines).[1][2] Patients with hypoganglionosis may also suffer from severe complications including fecaloma (hardening of…
Cole Carpenter syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2050 Definition An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and…
Sclerosing mesenteritis
Sclerosing mesenteritis is one of many terms that describes a spectrum of inflammatory disorders that affect the mesentery. The mesentery is the membrane that anchors the small intestine to the back of the abdominal wall.[1][2][3] The condition mostly affects men between their 40s and 60s, but women and children can also be affected. It may result…
Brachioskeletogenital syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1299 Definition Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and…
IVIC syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2307 Definition IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. Epidemiology Prevalence of…
Trichothiodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33364 Definition Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). Epidemiology The exact prevalence of TTD is…
Linear nevus sebaceous syndrome
Linear nevus sebaceous syndrome (LNSS) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (CNS).[1] The nevus usually is located on the face, scalp, or neck.[1][2] The most common CNS abnormalities…
Hyperphenylalaninemia due to dehydratase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1578 Definition Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition…
Karyomegalic interstitial nephritis
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Camptodactyly syndrome Guadalajara type 3
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Palmoplantar keratoderma
Palmoplantar keratoderma (PPK) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. PPK can also be a feature of various underlying syndromes.[1] In rare forms of PPK, organs other than the skin may also be affected. PPK can be either acquired during…
Systemic capillary leak syndrome
Systemic capillary leak syndrome (SCLS) is a condition in which fluid and proteins leak out of tiny blood vessels, into surrounding tissues. This can result in dangerously low blood pressure (hypotension), hypoalbuminemia, and a decrease in plasma volume (hemoconcentration).[1][2] Initial symptoms may include fatigue, nausea, abdominal pain, extreme thirst, and sudden increase in body weight. Episodes of SCLS…
Peters plus syndrome
Peters plus syndrome (PPS) affects many different parts of the body. The most common affected parts are the eyes. PPS causes abnormal development of the structures in the front of the eye, known as Peters anomaly. Other symptoms include limited growth, short limbs, cleft lip and/or palate, distinctive face, and developmental or intellectual disability. Less common symptoms…
SSR4-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 370927 Definition SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial…
Wallenberg syndrome
Wallenberg syndrome is a condition that affects the nervous system. Signs and symptoms may include swallowing difficulties, dizziness, hoarseness, nausea and vomiting, nystagmus, and problems with balance. Some people have uncontrollable hiccups, loss of pain and temperature sensation on one side of the face, and/or weakness or numbness on one side of the body. Wallenberg syndrome…
Spondylometaphyseal dysplasia Sedaghatian type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93317 Definition Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. Epidemiology Nine cases have been…
Liddle syndrome
Liddle syndrome is a rare, inherited condition that is primarily characterized by severe high blood pressure (hypertension) that often develops at an early age. Although the condition may not be associated with signs and symptoms initially, untreated hypertension can eventually lead to heart disease or stroke. Affected people may also have low levels of potassium…
Littoral cell angioma of the spleen
Littoral cell angioma of the spleen (LCA) is a very rare, vascular tumor of the spleen. Most reported cases have been non-cancerous (benign), but an LCA can become cancerous (malignant). In many cases, LCA does not cause any symptoms. It may be discovered due to abdominal pain or by accident (incidentally) when having a physical exam or…
Pentosuria
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2843 Definition Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. Epidemiology The condition occurs essentially in…
ICF syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2268 Definition The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres…
Schaaf-Yang syndrome
Schaaf-Yang syndrome is a genetic condition that affects many parts of the body and is similar to Prader-Willi syndrome. Infants with this syndrome can have low muscle tone (hypotonia), feeding difficulties, developmental delay, intellectual disability, and autism spectrum disorder. They also typically have joint contractures, affecting the finger joints and sometimes the knees and elbows….
Marinesco-Sjogren syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 559 Definition Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. Epidemiology Prevalence is most likely below 1 to…
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene.[1] Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals with MEN 2A are also…
Chromosome 16p13.3 deletion syndrome
Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms…
Mitochondrial myopathy and sideroblastic anemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2598 Definition Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial…
1q21.1 microdeletion syndrome
1q21.1 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). Some people with this deletion have no observable features while others have variable findings that can include a small head (microcephaly), developmental delay (speech and motor delays), mild intellectual disability, distinctive…
Proximal chromosome 18q deletion syndrome
Proximal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and…
Chromosome 2p deletion
Chromosome 2p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 2. 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…
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 300501 Definition Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa,…
Ring chromosome 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1450 Definition Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities,…
Myelodysplastic Syndrome With Excess Blasts
Myelodysplastic syndrome with excess blasts is a rare type of myelodysplastic syndrome (MDS).[1] In this type of MDS, the number of very early forms of blood cells (blasts) are increased in the bone marrow and/or blood. There is also a low numbers of at least one type of blood cell. The early forms of cell…
Myalgic encephalomyelitis/chronic fatigue syndrome
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is an umbrella term that includes both myalgic encephalomyelitis (ME) and chronic fatigue syndrome (CFS). It is a serious, chronic and complex disease that affects many systems of the body and can profoundly impact daily activities. The main symptom is disabling fatigue that does not improve with rest and lasts at…
Woods Black Norbury syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2571 Definition X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. Epidemiology The syndrome has been described in only one family with nine affected individuals…
PGM3-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 443811 Definition PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis…
Neurofibromatosis-Noonan syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 638 Definition Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling,…
McPherson Clemens syndrome
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Nonseminomatous germ cell tumor
Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of…
Orofaciodigital syndrome 1
Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the…
Cockayne syndrome type I
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay.[1] This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities.[2] There are…
Olivopontocerebellar atrophy
Olivopontocerebellar atrophy (OPCA) is a term used for a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain.[1] OPCA can be viewed as a finding of several diseases, and indicates a form of progressive ataxia (abnormal or uncontrolled movements) distinguished by characteristic findings in brain imaging studies and at autopsy…
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