Rare Immunology News
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2983DefinitionVerloes-Gillerot-Fryns syndrome is a rare association of malformations.EpidemiologyIt has been described in only three patients, including two sibs.Clinical descriptionThe first patient had profound intellectual deficit. His general aspect clearly resembled that of individuals with Borjeson-Forssman-Lehmann syndrome,…
White forelock with malformations
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2475 Definition White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye…
Acute necrotizing encephalopathy
Acute necrotizing encephalopathy (ANE) is a rare disease characterized by brain damage (encephalopathy) that usually follows an acute febrile disease, mostly viral infections.[1]. Most of the reported cases are from previously healthy Japanese and Taiwanese children, but it is now known that the disease may affect anybody in the world. The symptoms of the viral infection…
Stevens-Johnson syndrome/toxic epidermal necrolysis
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a very severe reaction, most commonly triggered by medications, that causes skin tissue to die (necrosis) and detach. The mucous membranes of the eyes, mouth, and/or genitals are also commonly affected.[1] SJS and TEN previously were thought to be separate conditions, but they are now considered part of a disease spectrum. SJS…
Adrenomyeloneuropathy
Adrenomyeloneuropathy (AMN) is an inherited condition that affects the spinal cord. It is a form of X-linked adrenoleukodystrophy. On average, people with AMN begin to develop features in the late twenties. Signs and symptoms may include progressive stiffness and weakness of the legs; ataxia; speech difficulties; adrenal insufficiency; sexual dysfunction; and bladder control issues. Some people with…
Rapid-onset dystonia-parkinsonism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71517 Definition Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. Epidemiology The prevalence is unknown. Fewer than 100…
Eastern equine encephalitis
Eastern equine encephalitis (Triple E) is an illness caused by a virus that comes from an infected mosquito bite. Most people who are infected have no symptoms, but some may develop fever, headaches, and vomiting. Symptoms occur within 4-10 days of being infected and most recover in 1-2 weeks. A small number will develop swelling of…
Desmoid tumor
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 873 Definition A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. Epidemiology DTs account for < 3% of soft tissue tumors….
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is an inborn error of metabolism characterized by delayed psychomotor development, neurological degeneration, increased lactic acid, and brain lesions in structures of the brain known as the basal ganglia.[1] It is one subtype of Leigh-Like syndrome.[2] Only a few cases have being reported. Symptoms may include delayed motor and…
PCDH19-related female-limited epilepsy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101039 Definition Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life…
Linear scleroderma
Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles,…
ALG8-CDG (CDG-Ih)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79325 Definition A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy,…
Fucosidosis
Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking, and the skills they do acquire often deteriorate over time….
Apparent mineralocorticoid excess
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Myhre syndrome
Myhre syndrome is a rare, connective tissue disorder that affects many parts of the body. Signs and symptoms include fibrosis (thickening and scarring of connective tissue), intellectual disability, distinctive facial features, skeletal abnormalities, and/or various birth defects. The syndrome may affect the structure or function of the heart, the respiratory system, the gastrointestinal system, and the skin.[1][2]…
Klippel-Trenaunay syndrome
Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome has three characteristic features: a red birthmark called a port-wine stain, overgrowth of soft tissues and bones, and vein malformations such as varicose veins or malformations of deep veins in the limbs. The overgrowth of bones and soft…
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection (Familial TAAD) is a rare condition that affects the aorta (the large blood vessel that distributes blood from the heart to the rest of the body). In people affected by this condition, the thoracic aorta (the upper part of the aorta, near the heart) may become weakened, stretched…
Familial primary hypomagnesemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34526 Definition A rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood. Epidemiology To date, more than…
Bell’s palsy
Bell’s palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of…
Persistent Müllerian duct syndrome
Persistent Müllerian duct syndrome (PMDS) is affects the development of the sexual organs in males. Males with PMDS have normal testes and normal male external genitals. However, they also have a uterus and fallopian tubes (female reproductive organs). Early signs of PMDS may include undescended testes (cryptorchidism) or inguinal hernias. The uterus and fallopian tubes…
Arginase deficiency
Arginase deficiency is an inherited metabolic disease in which the body is unable to process arginine (a building block of protein).[1][2] It belongs to a group of disorders known as urea cycle disorders. These occur when the body’s process for removing ammonia is disrupted, which can cause ammonia levels in the blood to rise (hyperammonemia). In…
Frasier syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 347 Definition A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. Epidemiology To date, less than 150 cases…
Genito palato cardiac syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2075 Definition Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Visit the Orphanet disease page…
Rhabdoid tumor
Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked…
Autoimmune pancreatitis
Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and symptoms include painless jaundice, weight loss, and noncancerous masses…
Autosomal dominant intellectual disability 30
Autosomal dominant intellectual disability 30 is a rare genetic condition characterized by developmental delay, speech delay, social difficulties and behavioral problems. Other symptoms and features may include aggressive behavior with mood swings in childhood, unusual facial features (wide spaced eyes (hypertelorism), drooping eyelids (ptosis), and a wide mouth), autism spectrum disorder, poor muscle tone (hypotonia),…
Glycogen storage disease type 1B
Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged…
Primary angiitis of the central nervous system
Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. The cause…
Keratoderma palmoplantar spastic paralysis
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BAP1 tumor predisposition syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 289539 Definition BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma,…
Progeria
Progeria leads to extreme premature aging and affects many different body systems. The symptoms begin within a year of life with poor growth and weight gain. Children with progeria have a characteristic facial appearance with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include baldness, loss of fat under the…
Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not…
Sinonasal undifferentiated carcinoma
Sinonasal undifferentiated carcinoma (SNUC) is a type of cancer that develops in the sinuses of the head. SNUC occurs when cells from the layer of tissue that lines the sinuses (called the epithelium) rapidly increase in number, forming a mass. The first symptoms of SNUC may include difficulty breathing though the nose or mild facial pain….
GM1 gangliosidosis type 1
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although…
Hypophosphatemic rickets
Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood.[1] Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint…
Blepharophimosis with ptosis, syndactyly, and short stature
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2057 Definition A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the…
Rickets
Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun’s rays. Some foods also contain vitamin D, including fortified…
Genuine diffuse phlebectasia
Genuine diffuse phlebectasia or Bockenheimer’s syndrome is a very rare condition characterized by an extensive venous malformation involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life.[1][2] The venous dilatation can be seen beneath the skin on the arms and legs. It…
Pachydermoperiostosis
Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain.[1][2] Other features may include congenital heart disease and delayed closure of fontanelles.[2] This condition typically appears during childhood or adolescence, often around the time of puberty,…
Kyphomelic dysplasia
Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized by the following: a disproportionately short stature with a short narrow chest, shortening and bending (bowing) of the limbs, flared irregular metaphyses of the bones, and characteristic facial features. Bone changes are said to improve with age. Kyphomelic dysplasia is inherited in an autosomal recessive pattern. [1] Recent studies indicate that…
Partington syndrome
Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms…
Bullous dystrophy hereditary macular type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1867 Definition Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of…
Isolated levocardia
Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs.[1] Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects (absent, underdeveloped, or extra spleen), and intestinal…
Mucoepidermoid carcinoma
Mucoepidermoid carcinoma is a type of cancer of the salivary glands. Salivary gland cancer is diagnosed in 2-3 individuals per 100,000 people each year, and 30-35% of these are mucoepidermoid carcinomas.[1][2] Mucoepidermoid carcinoma develops when a cell randomly acquires changes (mutations) in genes that regulate how the cell divides such that it begins to grow quickly, forming…
Microcephaly deafness syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2533 Definition Microcephaly-deafnessintellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and…
Camurati-Engelmann disease
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk,…
Renal medullary carcinoma
Renal medullary carcinoma is a rare kidney cancer that mostly affects young people with African ancestry.[1] The tumor develops in the medulla of the kidney. The first sign is often blood in the urine (hematuria). Patients may also develop flank pain or feel a lump in the abdomen that is usually on the right side of the…
Microcystic lymphatic malformation
Microcystic lymphatic malformation is one subtype of lymphatic malformation (LM), a congenital malformation of the lymphatic vessels in soft tissues, including the skin.[1] LM is classified into the macrocystic type, cysts larger than 2 cm with clear margins (previously known as cystic hygromas), and the microcystic type, consisting of cysts smaller than 2 cm, that…
Ledderhose disease
Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet.[1] It is generally seen in middle-aged and elderly people, and occurs in men about 10 times more often than in women. It typically affects both feet and progresses slowly,…
Paraganglioma and gastric stromal sarcoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97286 Definition Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. Epidemiology It is a very rare syndrome reported in less than 20 unrelated…
Limited systemic sclerosis
Limited systemic sclerosis (also known as sine scleroderma) is a type of systemic scleroderma that is characterized by Raynaud’s phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin.[1][2][3] While the exact cause of limited systemic sclerosis is unknown, it is believed to originate from an autoimmune reaction which leads to…
Cutaneous collagenous vasculopathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280779 Definition Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias. Epidemiology It is a rare disorder with less than 20 cases reported in the literature…
Localized hypertrophic neuropathy
Localized hypertrophic neuropathy is a nerve condition in which nerve cells increase in number and form bundles that look like onion bulbs. This condition affects one nerve, usually in an arm or leg. The symptoms of this condition include muscle weakness, numbness, and decreased reflexes in the affected limb. Symptoms slowly get worse over time.[1] The cause…
CDKL5 deficiency disorder
CDKL5 deficiency disorder is a genetic disorder that causes seizures, developmental delay, and severe intellectual disability. Seizures typically begin within a few months after birth and are difficult to control with medications. Most children have 1 to 5 seizures every day. Other symptoms include problems with sleeping, feeding, and teeth grinding. Gastrointestinal symptoms are also…
Central pontine myelinolysis
Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs when sodium deficiency is treated too rapidly. The part of the brain called the pons is especially sensitive and too much sodium can damage nerve fibers. Initial signs and symptoms appear within two to three days and include a depressed level of awareness,…
CODAS syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1458 Definition Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. Epidemiology To date, three affected children (an unrelated Canadian girl and boy of Mennonite descent, and…
Cervical dystonia
Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia). Most commonly, the head turns to one side or the other. Tilting sideways, or to the back or front may also occur.[1][2] The turning or tilting movements may be accompanied by shaking movement…
Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods.[1] PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all…
Children’s interstitial lung disease
Children’s interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe[1]. All types of chILD decrease a child’s ability to supply oxygen to their body. These diseases make it difficult for the lungs to…
Gilbert syndrome
Gilbert syndrome is a mild liver disorder that impairs the body’s ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia).[1] Most people with Gilbert syndrome do not have symptoms or have mild jaundice….
Rare Immunology News