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Melnick–Needles Syndrome
Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical faces (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and Sclerosis (medicine), sclerosis of base of skull. In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected. Melnick–Needles syndrome is associated with mutations in the ''FLNA'' gene and is inherited in an X-linked dominant manner. As with many genetic disorders, there is no known cure to MNS. The disorder was first described by John C. Melnick and Carl F. Needles in 1966 in two multi-generational families. Signs and symptoms Craniofacial Melnick–Needles syndrome causes distinctive craniofacial abnormalities. These includ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Dominant
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder is located on the X chromosome, and only one copy of the allele is sufficient to cause the disorder when inherited from a parent who has the disorder. In this case, someone who expresses an X-linked dominant allele will exhibit the disorder and be considered affected. X-linked dominant traits do not necessarily affect males more than females (unlike X-linked recessive traits). The exact pattern of inheritance varies, depending on whether the father or the mother has the trait of interest. All fathers that are affected by an X-linked dominant disorder will have affected daughters but not affected sons. However, if the mother is also affected ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kyphoscoliosis
Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, psychological issues emanating from anxiety about acceptance among peers, especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne muscular dystrophy due to asymmetric weakening of the paraspinal muscles. Signs and symptoms The following are clear signs of Kyphoscoliosis: * Abnormal hunch along with a presence of S or C-like shape. * * Presence of associated disorders like hypertension, neurological disorders * Abnormal gait Kyphosis Kyphosis by itself refers to an excessive convex curvature of the spine occurring in the thoracic and sacral regions. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mosaicism
Mosaicism or genetic mosaicism is a condition in multicellular organisms in which a single organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Genetic mosaics may often be confused with chimerism, in which two or more genotypes arise in one individual similarly to mosaicism. In chimerism, though, the two genotypes arise from the fusion of more than one fertilized zygote in the early stages of embryonic development, rather than from a mutation or chromosome loss. Genetic mosaicism can result from many different mechanisms including chromosome nondisjunction, anaphase lag, and endoreplication. Anaphase lagging is the most common way by which mosaicism arises in the preimplantation embryo. Mosaicism can also result from a mutation in one cell during development, in which case the mutation will be passed on only to its daughter cells (and will be present only in certain adult cel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stillborn
Stillbirth is typically defined as fetal death at or after 20 or 28 weeks of pregnancy, depending on the source. It results in a baby born without signs of life. A stillbirth can result in the feeling of guilt or grief in the mother. The term is in contrast to miscarriage, which is an early pregnancy loss, and Sudden Infant Death Syndrome, where the baby dies a short time after being born alive. Often the cause is unknown. Causes may include pregnancy complications such as pre-eclampsia and birth complications, problems with the placenta or umbilical cord, birth defects, infections such as malaria and syphilis, and poor health in the mother. Risk factors include a mother's age over 35, smoking, drug use, use of assisted reproductive technology, and first pregnancy. Stillbirth may be suspected when no fetal movement is felt. Confirmation is by ultrasound. Worldwide prevention of most stillbirths is possible with improved health systems. Around half of stillbirths occur during ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Omphalocele
Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera (e.g. stomach, liver) in the umbilical cord results in an omphalocele. Omphalocele occurs in 1 in 4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect (40%), exstrophy of the bladder and Beckwith–Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities. About 30% of infants with an omphalocele have other congenital abnormalities. Signs and symptoms The sac, which is formed from an outpouching of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prune Belly Syndrome
Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often (but not always) present on the abdomen of those with the disorder. Signs and symptoms Prune-belly triad consists of signs such as: Cryptorchidism, abdominal wall defects and genitourinary defects: * A partial or complete lack of abdominal wall muscles. There may be wrinkly folds of skin covering the abdomen. * Cryptorchidism (undescended testicles) in males * Urinary tract abnormality such as unusually large ureters, distended bladder, accumulation and backflow of urine from the bladder to the ureters and the kidneys (vesicoureteral reflux) Other signs include: * Frequent urinary tract infections due to the inability to properly expel urine. * Ventricular septal defect * Malrotation o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hydronephrosis
Hydronephrosis describes hydrostatic dilation of the renal pelvis and calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dilation of the entire upper urinary tract (both the renal pelvicalyceal system and the ureter). Signs and symptoms The signs and symptoms of hydronephrosis depend upon whether the obstruction is acute or chronic, partial or complete, unilateral or bilateral. Hydronephrosis that occurs acutely with sudden onset (as caused by a kidney stone) can cause intense pain in the flank area (between the hips and ribs) known as a renal colic. Historically, this type of pain has been described as "Dietl's crisis". Conversely, hydronephrosis that develops gradually over time will generally cause either a dull discomfort or no pain. Nausea and vomiting may also occur. An obstruction that occurs at the urethra or bladder outlet can cause pain and pressure result ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tricuspid Valve Prolapse
In medicine, prolapse is a condition in which organs fall down or slip out of place. It is used for organs protruding through the vagina, rectum, or for the misalignment of the valves of the heart. A spinal disc herniation is also sometimes called "disc prolapse". Prolapse means "to fall out of place", from the Latin ' meaning "to fall out". Relating to the uterus, prolapse condition results in an inferior extension of the organ into the vagina, caused by weakened pelvic muscles. Humans Heart valve prolapse The main type of prolapse of heart valves in humans is mitral valve prolapse (MVP), which is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. ''Tricuspid valve prolapse'' can cause tricuspid regurgitation.Page 41 in: Rectal prolapse Rectal prolapse is a condition in which part of the wall or the entire wall of the rectum falls out of place. Rectal prolapse can be a medical ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitral Valve Prolapse
Mitral valve prolapse (MVP) is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. It is the primary form of myxomatous degeneration of the valve. There are various types of MVP, broadly classified as classic and nonclassic. In severe cases of classic MVP, complications include mitral regurgitation, infective endocarditis, congestive heart failure, and, in rare circumstances, cardiac arrest. The diagnosis of MVP depends upon echocardiography, which uses ultrasound to visualize the mitral valve. MVP is the most common valvular abnormality and is estimated to affect 2–3% of the population and 1 in 40 people might have it. The condition was first described by John Brereton Barlow in 1966. It was subsequently termed ''mitral valve prolapse'' by J. Michael Criley. Although mid-systolic click (sound of prolapsing mitral leaflet) and systolic murmur have been noticed earlier with stethoscope ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Conductive Hearing Loss
Conductive hearing loss (CHL) occurs when there is a problem transferring sound waves anywhere along the pathway through the outer ear, tympanic membrane (eardrum), or middle ear ( ossicles). If a conductive hearing loss occurs in conjunction with a sensorineural hearing loss, it is referred to as a mixed hearing loss. Depending upon the severity and nature of the conductive loss, this type of hearing impairment can often be treated with surgical intervention or pharmaceuticals to partially or, in some cases, fully restore hearing acuity to within normal range. However, cases of permanent or chronic conductive hearing loss may require other treatment modalities such as hearing aid devices to improve detection of sound and speech perception. Causes Common causes of conductive hearing loss include: External ear * Cerumen (earwax) or foreign body in the external auditory canal * Otitis externa, infection or irritation of the outer ear * Exostoses, abnormal growth of bone withi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exophthalmus
''Exophthalmus'' is a genus of broad-nosed weevils in the family Curculionidae. It contains 85 described species. Taxonomy ''Exophthalmus'' was named for the first time by Carl Johan Schönherr in 1823 (column 1140). It belongs in the tribe Eustylini. In revising the Jamaican species, Vaurie offers an overview to the genus and its taxonomic conflicts. A preliminary phylogeny for ''Exophthalmus'' and its allies was presented by Franz. It is part of the so-called ''"Exophthalmus'' genus complex" which involves members of the genera ''Diaprepes'', ''Compsus'', ''Lachnopus'', among others. Based on morphological and molecuelar evidence, it has been proposed that the genus needs to be reclassified to better reflect the actual distribution of natural clades. Description In general, ''Exophthalmus'' species are characterized by the smooth and broad longitudinal bridge running longitudinally across the rostrum. There is a lot of variation in sizes, density, coloration, and patt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Strabismus
Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on an object can alternate. The condition may be present occasionally or constantly. If present during a large part of childhood, it may result in amblyopia, or lazy eyes, and loss of depth perception. If onset is during adulthood, it is more likely to result in double vision. Strabismus can occur due to muscle dysfunction, farsightedness, problems in the brain, trauma or infections. Risk factors include premature birth, cerebral palsy and a family history of the condition. Types include esotropia, where the eyes are crossed ("cross eyed"); exotropia, where the eyes diverge ("lazy eyed" or "wall eyed"); and hypertropia or hypotropia where they are vertically misaligned. They can also be classified by whether the problem is present in all directions a person looks (comitant) or varies by direction (incomitant). Diagnosis may be made by obser ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
