Rare Endocrinology News
Ventricular extrasystoles with syncopal episodes perodactyly Robin sequence
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3201DefinitionThis syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).EpidemiologyIt has…
SATB2-associated syndrome
The SATB2-associated syndrome (SAS) is a recently described condition, characterized by developmental delay, intellectual disability with absent or limited language skills, palatal and dental abnormalities, behavioral problems, and unusual facial features. The main symptoms can be remembered using the acronym S.A.T.B.2 (S, Severe speech anomalies; A, Abnormalities of the palate; T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain anomalies, and…
Silicosis
Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust.[1] There are three types of silicosis:[1][2] Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing. Accelerated silicosis occurs after 5 to…
Tetra-amelia syndrome
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with…
Dextrocardia
Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other…
Acral lentiginous melanoma
Acral lentiginous melanoma (ALM) is a type of melanoma that occurs on the palms of the hands or the soles of the feet. The condition can develop in normal-appearing skin or within an existing mole. ALM begins as a flat patch of discolored skin that may enlarge slowly over time. Although the cancer cells often…
Vascular hyalinosis
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Pseudopapilledema blepharophimosis hand anomalies
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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…
Spinocerebellar ataxia 29
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 208513 Definition An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Epidemiology Spinocerebellar ataxia type 29 (SCA29) prevalence is unknown. More…
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…
Sialadenitis
Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly…
Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. Symptoms vary in severity and age of onset, but usually develop between the ages of 30 and 40. ADPKD is a progressive disease and symptoms tend to get worse over time. The most common symptoms…
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…
Coloboma of macula
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98945 Definition Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera…
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,…
Ameloblastic carcinoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 314422 Definition A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may…
GM3 synthase deficiency
GM3 synthase deficiency is a rare neurological disorder in which the brain does not develop normally. Symptoms of the disease begin within the first weeks or months of life and include difficulty feeding, irritability, vomiting, and seizures accompanied by loss of consciousness (grand mal seizures). Vision and hearing loss, spots of darker skin color (hyperpigmentation), and intellectual…
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]…
CYLD cutaneous syndrome
CYLD cutaneous syndrome causes the growth of several types of non-cancerous (benign) skin tumors. Tumors mainly grow on the scalp and face, but can also grow on the torso, genitals and armpits. Tumors usually first appear in the teens or early adulthood. The types of tumors that occur in CYLD cutaneous syndrome may include cylindromas, spiradenomas, and…
Extranodal nasal NK/T cell lymphoma
Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare type of cancer. The term extranodal is used because this form of lymphoma is found outside of the traditional lymph node groupings. It mainly affects men around 50 years of age, and usually arises in the nose, paranasal sinuses (paranasal sinuses are cavities (spaces) or small tunnels….
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…
Goodpasture syndrome
Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term “Goodpasture syndrome” for the findings of glomerulonephritis and pulmonary hemorrhage and the term “Goodpasture disease” for those patients with glomerulonephritis, pulmonary…
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…
Limb-body wall complex
Limb-body wall complex (LBWC) is a condition characterized by multiple, severe congenital abnormalities in a fetus. It typically results in openings in the anterior body wall (chest and belly) and defects of the limbs (arms and legs). Other features of LBWC may include facial clefts; a short or missing umbilical cord; scoliosis; neural tube defects;…
Spinal intradural arachnoid cysts
Spinal intradural arachnoid cysts are cerebrospinal fluid-filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious…
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…
Malignant Atrophic Papulosis
Degos disease is a rare blood vessel disorder. It is characterized by blockages of small to medium sized blood vessels. This slows or stops the flow of blood through the affected vessels. Severity of symptoms depends on the extent and location of the affected blood vessels. Some individuals with Degos disease have isolated skin involvement…
Autoimmune myocarditis
Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore…
MBD25–related intellectual disability
MBD25–related intellectual disability, or MBD25 haploinsufficiency, is a neurological and developmental disorder characterized by developmental delay, intellectual disability, speech problems, seizures, sleep troubles, and abnormal behaviors. Most children lack speech entirely or may only be able to use single words, short phrases, or short sentences. Seizures are present in about 80% and usually begin around age two…
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…
Severe generalized recessive dystrophic epidermolysis bullosa
Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. The signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to…
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…
Melioidosis
Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water.[1] Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia.[2][3] The signs and symptoms of the disease can…
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…
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
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…
X-linked lissencephaly with abnormal genitalia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 452 Definition X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset…
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1200 Definition Choanal atresia deafness cardiac defects dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial…
Hypofibrinogenemia, familial
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101041 Definition Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. Epidemiology Prevalence is unknown but hypofibrinogenemia is more frequent than afibrinogenemia…
Hypoparathyroidism
Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury…
Interstitial cystitis
Interstitial cystitis (IC) is a chronic condition that causes painful urinary symptoms. Symptoms and severity can vary. Some people may have only mild discomfort, or feel tenderness or pressure in the bladder or pelvis. Others may experience intense bladder pain, urgent or frequent needs to urinate, or pain during sexual intercourse.[1][2] Symptoms may be constant, or they…
Idiopathic hypersomnia
Idiopathic hypersomnia (IH) is a neurological sleep disorder that can affect many aspects of a person’s life. Symptoms often begin between adolescence and young adulthood and develop over weeks to months. People with IH have a hard time staying awake and alert during the day (chronic excessive daytime sleepiness, or EDS). They may fall asleep unintentionally…
Bronchiolitis obliterans organizing pneumonia
Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli).[1] BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry…
Brachydactyly
Brachydactyly is a general term characterized by disproportionately short fingers and toes. It can occur as an isolated finding or as part of a complex syndrome. Many different types of brachydactyly have been identified. Some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. The…
Poliomyelitis
Poliomyelitis is a viral disease that can affect nerves and can lead to partial or full paralysis. It is caused by infection with the poliovirus which can be spread by direct person-to-person contact, by contact with infected mucus or phlegm from the nose or mouth, or by contact with infected feces. There are three basic patterns of…
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3044 Definition A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid…
Bronchogenic cyst
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2357 Definition Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum. Visit the Orphanet disease page for more resources.
IRF2BPL-related disorders
IRF2BPLrelated disorders are a group of very rare neurodegenerative disorders with neurological symptoms that generally get worse over time. People with these disorders commonly have normal initial development followed by regression and loss of skills.[1][2][3] Symptoms include loss of motor skills (like walking and crawling), loss of speech, abnormal movements, and seizures. These disorders are…
Scapuloperoneal syndrome, neurogenic, Kaeser type
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Camptobrachydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1319 Definition Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well…
Fallopian tube cancer
Fallopian tube cancer develops in the tubes that connect a woman’s ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in any of…
DPM3-CDG (CDG-Io)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263494 Definition DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term). Visit the Orphanet…
Cardiofaciocutaneous syndrome
Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of CFC syndrome overlap significantly with those of two other conditions, Costello syndrome and Noonan syndrome….
Lattice corneal dystrophy type 3A
Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and…
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve…
Caudal appendage deafness
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1123 Definition Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Visit the Orphanet disease page for…
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