Rare Infectious Disease News

Necrotizing autoimmune myopathy

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 206569DefinitionNecrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.EpidemiologyThe prevalence and annual incidence of…

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Sarcoma botryoides

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Wolman disease

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Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency.[1] The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and…

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Factor V Leiden thrombophilia

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Factor V Leiden thrombophilia is a genetic disorder that makes it more likely for you to develop a blood clot sometime during your life. Still, it is estimated that 95% of people with factor V Leiden never develop a clot. When a clot does form, the clot most often occurs in your leg (deep venous…

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X-linked dominant scapuloperoneal myopathy

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X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow.[1][2] Some cases of scapuloperoneal myopathy…

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Autoimmune polyglandular syndrome type 3

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E31.0

Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body’s endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease.[1][2][3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia,…

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Spondyloepimetaphyseal dysplasia, Aggrecan type

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Q77.7

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171866 Definition Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Epidemiology To date, three cases have been described, all originating from…

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Gingival fibromatosis, 3

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Crigler-Najjar syndrome type 2

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Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of a…

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Siderosis

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Focal task-specific dystonia

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Focal task-specific dystonia (FTSD) is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. FTSD interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a…

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Gordon syndrome

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Q68.8

Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis. People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot, and an opening in the roof of the mouth (cleft palate). Their joints are…

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Spastic paraplegia 12

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G11.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100993 Definition A pure form of hereditary spastic paraplegia characterized by a childhoodto adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and…

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Free sialic acid storage disease

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E77.8

Free sialic acid storage diseases are inherited conditions that lead to progressive neurological damage. There are three forms of free sialic acid storage diseases; an infantile form, an intermediate severe form and Salla disease. The infantile form is the most severe, with symptoms appearing before birth or soon after. Salla disease is the least severe…

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Atrial septal defect coronary sinus

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Spondylometaphyseal dysplasia type A4

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Q77.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168555 Definition Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an…

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Glutaric acidemia type I

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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…

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Richards-Rundle syndrome

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G60.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1399 Definition Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or…

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Symphalangism distal

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Gas bloat syndrome

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Atypical Werner syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79474 Definition An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged…

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Temple syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254516 Definition Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad,…

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Genetic reflex epilepsy

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Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

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G60.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 401964 Definition A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy…

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TORCH syndrome

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Glaucoma, hereditary adult type 1A

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Xanthinuria type 2

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E79.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93602 Definition Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde…

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Glutamate decarboxylase deficiency

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Pachygyria, frontotemporal

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Polyembryoma

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Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy.[1] Symptoms of a…

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Troyer syndrome

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G11.4

Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia.[1][2] Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature.[2][3][1]…

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Winchester syndrome

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Rowley-Rosenberg syndrome

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Baby rattle pelvic dysplasia

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Hepatoblastoma

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C22.2

Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss…

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Bardet-Biedl syndrome 5

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Pyropoikilocytosis hereditary

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Primary basilar impression

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2285 Definition Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated…

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Red cell phospholipid defect with hemolysis

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Beare-Stevenson cutis gyrata syndrome

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Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis…

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Hodgkin lymphoma

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98293 Definition Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of Bcell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. Epidemiology HL…

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Epilepsy, benign occipital

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 25968 Definition Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment…

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Trichinosis

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B75

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 863 Definition Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral…

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Hyperbilirubinemia type 2

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Kienbock’s disease

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M92.2 M93.1

Kienbock’s disease causes one of the bones in the wrist (lunate bone) to slowly break down due to low blood supply. This process is called osteonecrosis. Symptoms include pain, swelling, limited movement, and decreased grip strength. The symptoms usually start in adulthood, but can occur at any age. Kienbock’s disease usually slowly gets worse over time….

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Hypertrichosis universalis

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Maxillonasal dysplasia, Binder type

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Q75.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1248 Definition Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Epidemiology Binder syndrome occurs in less than one birth in 10,000 but is probably underdiagnosed….

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Jorgenson Lenz syndrome

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Idiopathic alveolar hypoventilation syndrome

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Immunoglobulin G deficiency

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Immunoglobulin G (IgG) deficiency is a condition that involves the immune system and is characterized by a shortage of type G antibodies. There are four different subclasses of IgG: IgG1, IgG2, IgG3, and IgG4. People with IgG deficiency may have a decreased amount of one or more of the IgG subclasses or a shortage of other types…

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Sugarman brachydactyly

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Infantile scoliosis

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Branchial arch defects

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Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

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Q87.8

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…

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Bronchiectasis oligospermia

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3-methylcrotonyl-CoA carboxylase deficiency

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E71.1

3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency) is an inherited condition in which the body is unable to breakdown the amino acid, leucine (a building block of protein). Some children with 3-MCC deficiency will begin developing signs and symptoms during infancy or early childhood; however, more recent studies suggest that many affected babies identified through newborn screening…

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Limb deficiencies distal with micrognathia

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Q92.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1307 Definition The distal limb deficienciesmicrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Epidemiology It has…

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Rheumatoid factor-negative juvenile idiopathic arthritis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85408 Definition Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less…

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La Crosse encephalitis

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La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states.[1] The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-100 cases of this condition are…

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Keratosis palmoplantaris striata 3

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Candida glabrata

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Sacral meningocele conotruncal heart defects

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DOLK-CDG (CDG-Im)

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E77.8

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…

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T-cell large granular lymphocyte leukemia

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Tcell large granular lymphocyte leukemia is a rare cancer of a type of white blood cells called lymphocytes. T-cell large granular lymphocyte leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their…

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Cardioencephalomyopathy

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Legius syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137605 Definition Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. Epidemiology The prevalence of Legius syndrome is…

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Carpotarsal osteochondromatosis

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D16.9

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2767 Definition Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. Visit the Orphanet disease page for more resources.

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Levotransposition of the great arteries

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Wellesley Carmen French syndrome

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Q87.8

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Lipoic acid biosynthesis defects

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Lipoic acid biosynthesis defects are a group of conditions caused by different enzymatic deficiencies. Lipoate is a cofactor essential for important reactions in humans involving several genes (LIPT1, LIAS, DLD) which codifiy different enzymes. Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined with a defect in…

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Cerebro-costo-mandibular syndrome

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Q87.8

Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening.[1][2] Most…

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Long QT syndrome 6

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Ependymoma

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251636 Definition Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of…

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Lymphomatous thyroiditis

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Madras motor neuron disease

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137867 Definition Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. Epidemiology Less than 200 cases have be reported to date, predominantly…

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Hutterite cerebroosteonephrodysplasia syndrome

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Treacher Collins syndrome 3

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Charcot-Marie-Tooth disease type 2B

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G60.0

Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited peripheral neuropathy with onset in the second or third decade of life. Common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle…

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Medium-chain 3-ketoacyl-coa thiolase deficiency

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Medulloblastoma, childhood

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MEGDEL syndrome

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Chondrodysplasia situs inversus imperforate anus polydactyly

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X-linked skeletal dysplasia-intellectual disability syndrome

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Q87.5

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1436 Definition Skeletal dysplasiaintellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has…

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Microcephaly

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Q02

Microcephaly is a rare neurological condition in which a person’s head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life.[1][2] Some children with microcephaly have normal intelligence and development. However, microcephaly can be associated with seizures; developmental…

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Chromosome 14q duplication

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Weber syndrome

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Orofaciodigital syndrome 2

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Q87.0

Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet.[1] It belongs to a group of disorders called orofaciodigital syndromes (OFDS), which are characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes.[2] Other organs might be affected in OFDS, defining…

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Ring chromosome 22

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Q93.2

Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality, a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome…

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Chromosome 6p duplication

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Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in…

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Muscular dystrophy

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G71.0

Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of…

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Chromosome Xp deletion

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Myxopapillary ependymoma

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D43.2

Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain and spinal cord).[1] They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors.[2] The age of diagnosis ranges…

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Chudley-Mccullough syndrome

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Neu Laxova syndrome

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Q87.8

Neu Laxova syndrome (NLS) is a genetic disorder affecting many parts of the body. Babies born with NLS usually grow poorly during pregnancy (intrauterine growth restriction). At birth, they may be small (low birth weight and short in length) and their facial features are usually different and distinct. The babies may have a small head…

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Congenital lipoid adrenal hyperplasia

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E25.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90790 Definition A disorder that is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. Epidemiology The prevalence is unknown but it is…

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Polymorphic reticulosis

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Zechi Ceide syndrome

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217017 Definition Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears,…

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Okamoto syndrome

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2729 Definition Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. Visit…

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Cogan’s syndrome

Unknown
H16.3

Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include irritation and pain in the eyes, decreased vision, hearing loss, and vertigo. Other symptoms may include joint or muscle pain or inflammation of the blood vessels.[1]  The exact cause of Cogan syndrome is not well-understood. It is thought that the syndrome…

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