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Chagas disease
Chagas disease is caused by the parasite, Trypanosoma cruzi. The triatomine bug, which can carry the parasite, most often bites a person’s face and therefore is more commonly known as the “kissing bug”. When a triatomine bug infected with Trypanosoma cruzi bites, it can leave behind infected waste which can be spread into the person’s eyes, nose, or a…
FACES syndrome
FACES syndrome, also known as Friedman-Goodman syndrome, is a condition that is characterized by unique Facial features, Anorexia, Cachexia (body wasting) and Eye and Skin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established. FACES syndrome has only been reported in three members of the same family.[1]
Anauxetic dysplasia
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Annular pancreas
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 675 Definition A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. Epidemiology The annual incidence is estimated at around 1/50,000 births,…
Orthostatic intolerance due to NET deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 443236 Definition A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with…
Fetal indomethacin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1909 Definition Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during…
Wells-Jankovic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2815 Definition A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid…
Infantile apnea
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70590 Definition Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages….
Femur bifid with monodactylous ectrodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1986 Definition A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Epidemiology Approximately 200 cases have been reported worldwide. Clinical description The malformation…
Fetal methylmercury syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1917 Definition A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. Epidemiology Accidents have…
Arachnodactyly intellectual disability dysmorphism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1130 Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe…
Melhem Fahl syndrome
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Arterial calcification of infancy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 51608 Definition A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive…
Prolactinoma
Prolactinoma is a tumor of the pituitary gland that causes increased levels of the hormone prolactin. This hormone normally stimulates breast development and milk production in women. Prolactinoma can affect men or women. In women, the symptoms may include unusual milk production (galactorrhea) when not pregnant or nursing and having no menstrual cycles (amenorrhea). In…
Ganglioglioma
A ganglioglioma is a rare type of brain tumor, accounting for approximately 1% of all brain tumors.[1] Gangliogliomas occur when a single cell in the brain starts to divide into more cells, forming a tumor.[2] This can occur when the cell randomly acquires changes (mutations) in genes that regulate how a cell divides. Most gangliogliomas grow slowly…
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…
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…
Pili annulati
Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding.[1] People with pili annulati may describe their hair as “striped” or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may…
Plasmablastic lymphoma
Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression…
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…
Short rib-polydactyly syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93271 Definition Short ribpolydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis…
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…
Renal tubular dysgenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3033 Definition Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat…
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,…
Tetrasomy X
Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but…
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…
Renal glycosuria
Renal glycosuria is a rare condition in which glucose is excreted in the urine despite normal or low blood glucose levels. With normal kidney function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. However, in people with renal glycosuria, glucose is abnormally eliminated in the…
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…
Spinocerebellar ataxia 10
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98761 Definition Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild…
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…
Spondyloepimetaphyseal dysplasia Matrilin-3 related
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 156728 Definition Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat…
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…
Snyder-Robinson syndrome
Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other…
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…
Spondylometaphyseal dysplasia X-linked
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168544 Definition Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be…
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…
Transaldolase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101028 Definition Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Epidemiology…
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…
Trigonocephaly bifid nose acral anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3368 Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies,…
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…
Rare Nephrology News