Rare Endocrinology News
Aberrant subclavian artery
Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria).[1][2] Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection.[2] When aberrant subclavian…
STAR syndrome
STAR syndrome is a very rare syndrome that affects many parts of the body. “STAR” is an acronym for the primary signs and symptoms of the syndrome:[1] Syndactyly webbed or conjoined fingers or toes (the toes are particularly affected in this syndrome). Telecanthus increased distance between the inner corners of the eyes. Anogenital malformations abnormal formation of…
Deficiency of interleukin-1 receptor antagonist
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 210115 Definition Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis,…
Rapadilino syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3021 Definition A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and…
Dendritic cell tumor
A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans’ cell histiocytosis, Langerhans’ cell sarcoma, and dendritic cell sarcoma not…
Achondrogenesis
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs.[1][2] There are at least three forms of achondrogenesis, type 1A, type 1B and type 2. Achondrogenesis…
Tracheobronchomalacia
Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse.[1] There are two forms of TBM. One typically develops during infancy or early childhood (primary TBM). The other is an acquired form usually seen…
Trichodysplasia xeroderma
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DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1…
Weyers acrofacial dysostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 952 Definition A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely…
Trochleitis
Trochleitis is the swelling of structures in the eye that help control eye movement, specifically the oblique tendon and surrounding tissues.[1][2][3] Trochleitis may be isolated (occur alone or with migraine) or develop in association with an inflammatory condition, such as lupus or arthritis.[1][4][5][2] Signs and symptoms include aching and/or stabbing pain in the inner orbit…
Digestive System Melanoma
Digestive system melanoma refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are the cells that give the skin color. While it is not uncommon for melanomas to start…
Visual snow syndrome
Visual snow syndrome affects the way the visual information is processed by the brain and eyes. People with visual snow syndrome see many flickering tiny dots, like snow or static, that fill the entire visual field. Other visual symptoms include seeing blobs of varying size and shape (floaters) and continuing to see images after they are out…
Acute hemorrhagic leukoencephalitis
Acute hemorrhagic leukoencephalitis (AHLE) is a very rare form of acute disseminated encephalomyelitis that frequently results in death. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin (the protective covering of the nerve fibers). It may also cause bleeding in the brain, leading to damage of the white…
Sepiapterin reductase deficiency
Sepiapterin reductase deficiency is a neurometabolic disorder characterized by a pattern of involuntary sustained muscle contractions known as dystonia. Other common features include axial hypotonia , oculogyric crises, and delays in motor and cognitive development. The condition is caused by mutations in the SPR gene. It is inherited in an autosomal recessive fashion.[1][2] Treatment with levodopa (L-dopa) in combination with…
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 314404 Definition A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Epidemiology ADCA-DN has been reported in 24…
Adenomyosis
Adenomyosis is a condition that affects the uterus. In women with adenomyosis, the endometrial tissue (which typically lines the uterus) moves into the outer, muscular walls of the uterus. Some women may have no signs or symptoms of the condition. When present, features of the condition include heavy menstrual bleeding, painful menstrual periods, and pelvic…
Meckel syndrome
Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants…
GM1 gangliosidosis type 3
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…
DYT-PRKRA
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 210571 Definition Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. Epidemiology It has been described in 8…
Adverse events of 5-alpha-reductase inhibitors
This page does not serve as an official recognition of post-finasteride syndrome by the NIH. Please see our Disclaimer for more details. This page was created to provide a list of resources where you can find more information about reported adverse events of 5-alpha reductase inhibitors, which is sometimes referred to as post-finasteride syndrome. Some…
Metaphyseal anadysplasia
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Corpus callosum agenesis
Corpus callosum agenesis is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or combined with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure…
EEM syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1897 Definition EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also…
Androgen insensitivity syndrome
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a…
Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3199 Definition Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence…
Crandall syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 202 Definition Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad’s syndrome (see this term) that combines irregular…
Kohlschutter Tonz syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1946 Definition Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Visit the Orphanet disease page…
Combined immunodeficiency due to partial RAG1 deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231154 Definition Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. Epidemiology…
Epiphyseal dysplasia multiple with early-onset diabetes mellitus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1667 Definition Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Epidemiology Fewer…
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita neurogenic type (AMCN) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and lead to…
Paramyotonia congenita
Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure…
Gerstmann-Straussler-Scheinker disease
Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease. Prion diseases are a group of conditions that affect the nervous system. The main feature of GSS is a progressive degeneration of the cerebellum (a part of the brain that controls coordination, balance, equilibrium and muscle tone), as well as different degrees of dementia. Signs and symptoms generally develop between…
Sertoli-leydig cell tumors
Sertoli-Leydig cell tumors are a cancer that starts in the female ovaries. The cancer cells produce and release a male sex hormone which may cause the development of male physical characteristics (virilization), including facial hair and a deep voice.[1] This type of tumor is sometimes called arrhenoblastoma of the ovary or a stromal tumor.[1][2] Sertoli-Leydig cell tumors are rare tumors which account…
Papillary thyroid carcinoma
Papillary thyroid carcinoma is a form of cancer that occurs due to abnormal and uncontrolled cell growth of certain cells (follicular cells) of the thyroid. Many people with papillary thyroid carcinoma have no signs or symptoms of the condition. When present, symptoms may include a small lump at the base of the neck, hoarseness, difficulty…
Wolff-Parkinson-White syndrome
Wolff-Parkinson-White syndrome causes a problem with the rate or rhythm of the heartbeat (arrhythmia). People with the syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is paroxysmal…
Anthrax
Anthrax is an infection caused by the bacterium Bacillus anthracis. The severity of the condition, the associated signs and symptoms and the prognosis vary depending on which part of the body is involved (see below). Antibiotics can be used to treat all forms of anthrax. Antitoxin medications may also be used to treat some forms…
Apraxia
Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present…
Progressive external ophthalmoplegia, autosomal recessive 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254886 Definition A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory…
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis is an autoimmune condition that causes pain and swelling in a child’s joints. When the immune system attacks the tissues of the joints, the resulting inflammation can cause joint damage, resulting in the pain and swelling characteristic of the disease. Some children who have juvenile idiopathic arthritis are affected by episodes where…
Arts syndrome
Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked…
Glutaric acidemia type I
Glutaric acidemia type I (GA1) is a genetic metabolic disorder. People with GA1 don’t make enough of one of the enzymes needed to break down certain amino acids found in the proteins we eat. Without enough of the enzyme, the breakdown products of these amino acids build up in tissues of the body. The buildup of these…
Atkin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1193 Definition A rare syndrome characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same…
Selective IgA deficiency
Selective IgA deficiency is the most common type of primary immunodeficiency syndrome.[1][2] Individuals with this condition have a complete absence or severe deficiency of IgA, which is essential in the respiratory and gastrointestinal tracts and plays a role in developing mucosal immunity and protection against infection. While many people with selective IgA deficiency appear healthy,…
Gingival fibromatosis with distinctive facies
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Glomus vagale tumor
Glomus vagale tumor is a type of paraganglioma, which is a tumor that develops in the paraganglia (a group of cells that are found near nerve cell bunches called ganglia). Glomus vagale tumors, specifically, grow in the paraganglia located near the vagus nerve, an important cranial nerve which serves many functions including empowering the vocal…
Graham-Little-Piccardi-Lassueur syndrome
Graham-Little-Piccardi-Lassueur syndrome (GLPLS) is a rare type of scarring hair loss. It is most commonly found in otherwise healthy women between the ages of 30 and 70 years. GLPLS is characterized by three features: progressive patchy scarring hair loss of the scalp (cicatricial alopecia), non-scarring thinning of the hair in the armpits and groin (noncicatricial…
Spastic paraplegia 23
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101003 Definition Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo,…
Chronic lymphocytic leukemia
Chronic lymphocytic leukemia (CLL) is a type of cancer of the white blood cells (lymphocytes). Early signs and symptoms may include swollen lymph nodes, fatigue, weight loss, fever, night sweats and/or frequent infections. CLL usually occurs in adults around the age of 70 and begins in the bone marrow and then spreads to the blood. Over…
Exstrophy-epispadias complex
Exstrophy-epispadias complex (EEC) refers to a spectrum of birth defects that includes epispadias, classical bladder exstrophy, and exstrophy of the cloaca and several variants.[1][2] EEC is characterized by a visible defect of the lower abdominal wall and other problems. In normal development, the cloacal membrane temporarily separates the cloaca (final part of the intestine) into urogenital…
Steinfeld syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3186 Definition Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Epidemiology It has been described in two families (with…
Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that affects the liver. People with this condition experience episodes of cholestasis, during which the liver cells have a reduced ability to release bile (a digestive fluid). Episodes generally begin in the late teens or early twenties and may be accompanied by jaundice, severe itchiness, a…
Leukoencephalopathy-spondylometaphyseal dysplasia syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83629 Definition A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia,…
Rotor syndrome
Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of…
Bifid nose with or without anorectal and renal anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217266 Definition BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of…
Hypertrichosis lanuginosa, acquired
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2221 Definition A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as…
Idiopathic acute eosinophilic pneumonia
Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system.[1] IAEP can occur at any age but most commonly affects otherwise healthy individuals between 20 and 40 years of age. Signs and symptoms may…
Branchiootorenal syndrome
Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes.[1][2][3][4][5] It is passed through families in an…
Infantile onset spinocerebellar ataxia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1186 Definition Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Epidemiology So far,…
Branchial arch syndrome X-linked
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1131 Definition X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature,…
IRAK-4 deficiency
IRAK-4 deficiency is a condition that affects the immune system (primary immunodeficiency). It causes recurring severe infections by a type of bacteria called pyogenic bacteria. Individuals with IRAK-4 deficiency seem to be particularly susceptible to infections caused by bacteria called Streptococcus pneumoniae. The deficiency is caused by mutations in the IRAK4 gene and is inherited in an autosomal recessive pattern. Treatment…
8p inverted duplication/deletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 96092 Definition 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and…
Taurodontism
Taurodontism is a disorder of tooth development and occurs most commonly in permanent molar teeth.[1][2] It refers to an elongation of the pulp chamber of the tooth, which can cause the tooth to lie deep in the jaw (aveolar process).[3] At this time the cause of taurodontism is unknown.
Campomelia Cumming type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1318 Definition Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Epidemiology The syndrome has been reported in eight infants from four different families. Clinical description Skeletal features include tetramelic…
Satoyoshi syndrome
Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head…
DOLK-CDG (CDG-Im)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91131 Definition DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome…
Rare Endocrinology News