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Neutral lipid storage disease with myopathy
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern.[1] There is…
Cleft palate short stature vertebral anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2015 Definition Cleft palateshort staturevertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted…
Orofaciodigital syndrome 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2919 Definition Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Epidemiology Less than 20 patients (predominantly of Indian origin)…
Lynch syndrome
Lynch syndrome is a genetic disorder that causes an increased risk of developing certain types of cancer such as colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer…
Omenn syndrome
Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels.[1][2][3] Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this…
Pseudoneonatal adrenoleukodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2971 Definition Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in…
Orbital varix
An orbital varix is an abnormally enlarged, thin walled vein that is in direct communication with the normal orbital vessels. Orbital varices can be primary (most likely present from birth and confined to the orbit) or secondary (acquired due to increased blood flow in association with additional venous malformations elsewhere in the body). Symptoms such as intermittent double vision…
Pili torti developmental delay neurological abnormalities
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2891 Definition Pili tortidevelopmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous…
WDHA syndrome
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Reticular dysgenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33355 Definition Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to…
Preaxial polydactyly type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93338 Definition Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad,…
Congenital pulmonary lymphangiectasia
Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that affects the lungs. It is present from birth and usually becomes apparent in the first few days of life with respiratory failure.[1] It sometimes is apparent before birth with non-immune hydrops fetalis and pleural effusion (fluid in the lung).[1] Infants with CPL often develop severe, potentially life-threatening, respiratory…
Proliferative verrucous leukoplakia
Proliferative verrucous leukoplakia (PVL) is a rare type of oral leukoplakia, where white patches that have a high risk of becoming cancerous develop inside the mouth. It mainly involves the lining inside of the cheeks (buccal mucosa) and tongue. It starts as a white plaque of thickened skin (hyperkeratosis) that eventually spreads and forms rough,…
Pulmonary sequestration
Pulmonary sequestration is a rare congenital (present from birth) malformation where non-functioning lung tissue is separated from the rest of the lung and supplied with blood from an unusual source, often an artery from systemic circulation.[1][2][3][4] Pulmonary sequestrations may be defined as intralobular or extralobular, depending on their location.[2][3][4] Symptoms may include a chronic or recurrent cough, respiratory distress or lung infection.[3] Treatment depends on…
Cortical blindness-intellectual disability-polydactyly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1389 Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, preand postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism…
Roch-Leri mesosomatous lipomatosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 529 Definition Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third…
Gorlin Chaudhry Moss syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2095 Definition Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies. Epidemiology To date, 7 cases of GCM…
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and worsen over time. Severity of symptoms and rate of progression can vary.[1] Symptoms may include delayed motor development, learning difficulties, upper-motor neuron dysfunction (spasticity, exaggerated reflexes, and Babinski signs),…
Sacrococcygeal Teratoma
A sacrococcygeal teratoma is a tumor that grows at the base of the spine in a developing fetus. It occurs in one in 40,000 newborns and girls are four times more likely to be affected than boys. Though it is usually benign, there is a possibility that the teratoma could become malignant. As such, the recommended…
Cronkhite-Canada disease
Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). The cause of the condition is not known. Treatment aims to control…
Hardikar syndrome
Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects.[1][2] Only four cases have been reported in the medical literature.[2] The cause of…
Spinocerebellar ataxia 28
Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles…
Sickle cell hemoglobin D disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251370 Definition A rare, genetic hemoglobinopathy characterized by anemia and erythrocyte abnormalities including anisocytosis, poikilocytosis, target cells, and irreversibly sickled cells. Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic…
Selective IgM deficiency
Selective IgM deficiency (SIgMD) is a rare immune disorder in which a person has no immunoglobulin M (IgM) antibodies, or too little IgM, with normal levels of IgG and IgA antibodies.[1][2] IgM is the first antibody the immune system makes to fight a new infection.[3] Therefore, when a person does not have enough IgM, the body…
Lubani Al Saleh Teebi syndrome
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HEC syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2119 Definition A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the…
Temple-Baraitser syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 420561 Definition Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic…
Spastic paraplegia 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99015 Definition A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred…
Deafness nephritis anorectal malformation
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ANCA-associated vasculitis
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of diseases (granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis and microscopic polyangiitis), characterized by destruction and inflammation of small vessels.[1] The clinical signs vary and affect several organs, such as the kidney, stomach, intestine, and lung. Skin lesions, such as purpura and urticaria, result when blood from small vessels leaks under the…
Spitz nevus
Spitz nevus are non-cancerous skin lesions that tend to be dome-shaped, red, reddish-brown or dark colored. They usually develop on the face or limbs of young children.[1] They tend to grow quickly initially, but then stabilize or even disappear after a period of time.[1] Spitz nevi can be very difficult to distinguish from melanoma, as a result treatment tends to involve…
Deafness-infertility syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94064 Definition Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. Epidemiology It has been reported in fewer than 5 families. Etiology Male infertility is caused by abnormal spermatozoid morphology…
Onychodystrophy-anonychia
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15q24 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 94065 Definition 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by preand post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal,…
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…
TEMPI syndrome
TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation).[1] Signs and symptoms of TEMPI syndrome have appeared…
Desmosterolosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35107 Definition Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. Epidemiology Only 9 cases have been reported in the…
Diabetes mellitus type 1
Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age,…
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…
Triphalangeal thumbs brachyectrodactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2947 Definition Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly…
Dihydrolipoamide dehydrogenase deficiency
Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and symptoms may include lactic acidosis shortly after birth; hypotonia and lethargy in…
Pseudopapilledema blepharophimosis hand anomalies
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WHIM syndrome
WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: (W) = warts; (H) = hypogammaglobulinemia; (I) = infections; and (M) = myelokathexis (retention of neutrophils in the bone marrow). Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. In later childhood, individuals develop…
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…
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…
Plummer Vinson syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 54028 Definition Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Epidemiology Exact data about the epidemiology of the syndrome are not available; the syndrome is extremely rare….
SeSAME syndrome
SeSAME syndrome is characterized by Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)).[1] Seizures tend…
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…
Eosinophilic fasciitis
Eosinophilic fasciitis is a very rare condition in which muscle tissue underneath the skin, called fascia, becomes swollen and thick. Rapid swelling can occur in the hands, arms, legs, and feet. People with this condition have a buildup of eosinophils, a type of white blood cell, in the affected fascia and muscles. The exact cause of…
Endocardial fibroelastosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2022 Definition Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases….
Ermine phenotype
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 999 Definition Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The…
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…
Gingival fibromatosis with hypertrichosis
Gingival fibromatosis with hypertrichosis is a genetic condition that can cause profound overgrowth of hair and gums, as well as other variable features. Signs and symptoms may be present from birth or begin in later childhood to adolescence. The historical figure, Julia Pastrana and her infant son, likely had this syndrome.[1] The underlying cause of gingival fibromatosis with hypertrichosis is unknown, but speculated to involve a…
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 hemiplegic migraine
Familial hemiplegic migraine (FHM) is an inherited form of hemiplegic migraine. Hemiplegic migraine is a type of migraine with aura that causes motor impairment (such as weakness) in addition to at least one visual, sensory, or speech disturbance (aura) that occurs before the migraine headache begins.[1][2] FHM commonly begins during childhood or adolescence.[2] The symptoms…
Familial porencephaly
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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…
Familial reactive perforating collagenosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79147 Definition Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. Visit the Orphanet disease page for…
Multiple mitochondrial dysfunctions syndrome
Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. Due to…
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…
Fitzsimmons Walson Mellor syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2820 Definition Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions…
Gardner syndrome
Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers,…
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…
Lymphocytic hypophysitis
Lymphocytic hypophysitis (LH) is a condition in which the pituitary gland becomes infiltrated by lymphocytes, resulting in pituitary enlargement and impaired function.[1][2] It most often occurs in women in late pregnancy or the postpartum period, but can also occur in prepubertal or post-menopausal women, and in men.[1][2] Symptoms of LH may include headache, visual field…
Late-onset retinal degeneration
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67042 Definition Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade…
Glycogen storage disease type 1A
Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Researchers have described two types of glycogen storage disease type 1,…
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