Overview Nail fungus is a common infection of the nail. It begins as a white or yellow-brown spot under the tip of your fingernail or toenail. As the fungal infection goes deeper, the nail may discolor, thicken and crumble at the edge. Nail fungus can affect several nails. If your condition is mild and not bothering you, you may not need treatment. If your nail fungus is painful and has caused thickened nails, self-care steps and medications may help. But even if treatment is successful, nail fungus often comes back. Nail fungus is also called onychomycosis (on-ih-koh-my-KOH-sis).
Overview In heart valve disease, one or more of the valves in your heart doesn't work properly. Your heart has four valves that keep blood flowing in the correct direction. In some cases, one or more of the valves don't open or close properly. This can cause the blood flow through your heart to your body to be disrupted. Your heart valve disease treatment depends on the heart valve affected and the type and severity of the disease.
"Neuromyelitis Optica Spectrum Disorder and Anti-MOG Syndromes" . Biomedicines . 7 (2): 42. doi : 10.3390/biomedicines7020042 . ... "Anti-MOG antibodies plead against MS diagnosis in an Acquired Demyelinating Syndromes cohort". Multiple Sclerosis . 21 (12): 1513–20. doi : 10.1177/1352458514566666 . ... S2CID 22270592 . ^ a b c Wingerchuk, Dean (2006). "Neuromyelitis Optica (Devic's Syndrome)" (PDF) . 2006 Rare Neuroimmunologic Disorders Symposium . ... Ramos et al., A case of NMO spectrum disorder presenting with undiagnosed Sjogren's syndrome and a single, atypical tumefactive lesion: A clinical conundrum, Neur. ... Anthony, Jacqueline Palace, Classifying the antibody-negative NMO syndromes, Clinical, imaging, and metabolomic modeling, October 28, 2019, DOI: https://doi.org/10.1212/NXI.0000000000000626 External links [ edit ] Classification D ICD - 10 : G36.0 ICD - 9-CM : 341.0 MeSH : D009471 DiseasesDB : 29470 External resources Orphanet : 71211 v t e Multiple sclerosis and other demyelinating diseases of the central nervous system Signs and symptoms Ataxia Depression Diplopia Dysarthria Dysphagia Fatigue Incontinence Nystagmus Optic neuritis Pain Uhthoff's phenomenon Investigations and diagnosis Multiple sclerosis diagnosis McDonald criteria Poser criteria Clinical Clinically isolated syndrome Expanded Disability Status Scale Serological and CSF Oligoclonal bands Radiological Radiologically isolated syndrome Lesional demyelinations of the central nervous system Dawson's fingers Approved [ by whom?
Neuromyelitis optica spectrum disorders (NMOSD) affect the spinal cord and optic nerves (nerves that carry visual messages to and from the brain). Symptoms include pain, weakness, bowel and bladder problems, and temporary vision loss. NMOSD usually occurs in adulthood, but symptoms may start at any age. Some people have a single attack of symptoms lasting months, but in most people the symptoms come and go over time. People with NMOSD may develop permanent muscle weakness and vision loss.
Approximately one-quarter of individuals with neuromyelitis optica have signs or symptoms of another autoimmune disorder such as myasthenia gravis, systemic lupus erythematosus, or Sjögren syndrome. Some scientists believe that a condition described in Japanese patients as optic-spinal multiple sclerosis (or opticospinal multiple sclerosis) that affects the nerves of the eyes and central nervous system is the same as neuromyelitis optica.
Overview Neuromyelitis optica (NMO) is a central nervous system disorder that causes inflammation in nerves of the eye and the spinal cord. NMO is also called neuromyelitis optica spectrum disorder (NMOSD) and Devic disease. It occurs when the body's immune system reacts against its own cells. This happens mainly in the optic nerves that connect the retina of the eye with the brain and in the spinal cord. But it sometimes occurs in the brain. The disorder may appear after an infection.
Patients with NMO frequently have other systemic autoimmune disorders, such as systemic lupus erythematosus (SLE), Sjögren's syndrome or myasthenia gravis (see these terms).
Genuine diffuse phlebectasia or Bockenheimer's syndrome is a very rare condition characterized by an extensive venous malformation involving all veins, including the smallest ones, on the arms and legs.
A rare childhood-onset epilepsy syndrome characterized by sudden onset of staring and unresponsiveness, in association with rhythmical myoclonic jerks predominantly involving the superior upper limbs and leading to typical raising of the arms and shoulders.
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-73 (EIEE73) is caused by heterozygous mutation in the RNF13 gene (609247) on chromosome 3q25. For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see 308350. Clinical Features Edvardson et al. (2019) reported 3 unrelated children with a severe neurodevelopmental and neurodegenerative disorder. Abnormally high alpha-fetoprotein (AFP) in maternal blood was noted in the only pregnancy tested (patient 1). The patients had a small head circumference at birth (-2 to -3) and showed feeding difficulties, restlessness, and abnormally increased muscle tone.
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width.
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.
An extremely rare polymalformative syndrome. Epidemiology It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents.
Cantu et al. (1975) reported 3 affected males in a sibship of 13, from second-cousin parents, who had what the authors termed lethal faciocardiomelic dysplasia. They were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe cardiac malformation which may have been responsible for death of all 3 in the first week or so of life. Cardiac - Congenital heart malformation HEENT - Micrognathia - Retrognathia - Microstomia - Microglossia Limbs - Radial hypoplasia - Ulnar hypoplasia - Radial deviation of hands - Simian creases - Hypoplasia of fingers I and V - Fibular hypoplasia - Tibial hypoplasia - Talipes - Wide space between toes I and II Growth - Low birth weight - Neonatal death Inheritance - Autosomal recessive ▲ Close
Clinical description Neonates present with respiratory distress syndrome shortly after birth. The characteristic histological feature of PIG is the accumulation of monoparticulate glycogen in interstitial cells on lung biopsy.
A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber.
Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects.
Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia).
Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies.
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures.
Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin).