Restless legs syndrome (RLS) is a neurlgic sleep/wake disrder characterized by uncmfrtable and unpleasant sensatins in the legs that appear at rest, usually at night, inducing an irresistible desire tmve the legs. The disrder results in ncturnal insmnia and chrnic sleep deprivatin
Reticular dysgenesis (RD) is a rare frm f severe immundeficiency that is usually fatal unless a successful stem cell transplant is perfrmed. RD is characterized by cmbined immundeficiency and neutrpenia
An inherited disrder f the reticulendthelial system which is invlved in destrying bacteria and ther unwanted substances that enter the bdy.
A very rare syndrme characterized by eye prblems that has an early nset.
A gruop of disorders involving degeneratin of the retina. Retinitis pigmentsa and macular degeneration are examples.
Abnrmal develpment f the retina that affects males nly and affects visin. The severity f the cnditin is variable and may invlve retinal anmalies such as flds in the retina r bld vessel abnrmalities within the eye.
A rare disrder characterized by the assciatin f pr immunity with dilated retinal bld vessels.
A rare inherited disrder characterized mainly by eye, liver and endcrine functin abnrmalities.
Retinitis pigmentosa (RP) is a group of genetic eye conditions. In the progression of symptoms for RP, night blindness generally precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some sight all their life. Others go completely blind from RP, in some cases as early as childhood. Progression of RP is different in each case. RP is a type of hereditary retinal dystrophy, a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or nyctalopia (night blindness), followed by reduction of the peripheral visual field (known as tunnel vision) and, sometimes, loss of central vision late in the course of the disease.
A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness
A rare syndrome characterized by slow-prgressing sensorineural deafness, underdeveloped genitals and an eye defect.
Retinoblastoma (Rb) is a rapidly develping cancer which develops in the cells of the retina, the light sensitive cells fo the eye. In the developed wrld, Rb has one of the best cure rates of all childhood cancers (95-98%), with mroe than nine out of every ten sufferers surviving int adulthood. Retinoblastma is a very treatable cancer. There are two froms of the disease; a genetic heritable from and a non-genetic non-inheritable form. Approximately 55% of children with Rb have the non-genetic form. If there is n history of the disease within the family, the disease is labelled "spradic", but this des not necessarily indicate that it is the non-genetic form. In about two thirds of cases, [1] only one eye is affected (unilateral retinblastma); in the ther third, tumours develop in both eyes (bilateral retinoblastma). The number and size of tumours on each eye may vary. The position, size and quantity of tumours are cnsidered when chosing the type of treatment for the disease.
Retinopathy of prematurity (ROP), previously known as retrolental fibroplasia (RLF), is a disease of the eye that affects prematurely born babies. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal detachment. ROP can be mild and may resolve spontaneously, but may lead to blindness in serious cases. As such, all preterm babies are at risk for ROP, and very low birth weight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of ROP.
A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
Changes in the retina that occurs because of arteriosclerosis which involves hardening of the arteries.
A dominantly inherited disease of the retina.
A rare genetic disorder where the retina splits resulting in slow, progressive loss of vision corresponding to the damaged area
phanet, a cnsrtium f Eurpean partners, currently defines a cnditin rare when if affects 1 persn per 2,000. They list Retinpathy anemia cns anmalies as a "rare disease".
A very rare syndrme characterized by retinal disease, aplastic anemia and neurlgical prblems.
Retroperitoneal fibrosis is a disorder in which the tubes that carry urine from the kidneys to the bladder are blocked by a fibrous mass in the back of the abdomen.
A rare, slow growing tumor that develops in the retroperitoneal cavity of the abdomen and tends to displace organs rather than destroy them. The tumor generally contains fat and soft tissue.
CDKL5 and another gene, FOXG1, both lead to developmental disorders that resemble Rett syndrome. Clinicians generally consider mutations in CDKL5 to lead to ‘atypical Rett syndrome.’ However, the new study suggests that it is a distinct disorder with its own characteristic features.
Rett syndrome is a brain disorder that occurs almost exclusively in girls and it is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive inability to use muscles for eye and body movements and speech. . The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.
Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form. Although there's no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication and providing care and support for children and adults with Rett syndrome and their families.
Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson Syndrome [1], which is related to Dyskeratosis congenita.
Reye's syndrome is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver. It is associated with aspirin consumption by children with viral diseases such as chickenpox. The disease causes fatty liver with minimal inflammation, and severe encephalopathy (with swelling of the brain). The liver may become slightly enlarged and firm, and there is a change in the appearance of the kidneys. Jaundice is not usually present. Early diagnosis is vital, otherwise death or severe brain damage may follow.
A very rare syndrome characterized mainly by heart defects, large head, developmental problems and facial and skin anomalies.
Reynolds syndrome is a rare autoimmune disease, consisting of the combination of primary biliary cirrhosis and progressive systemic sclerosis. In some patients this syndrome has also been associated with Sjögren's syndrome and hemolytic anemia. Typical clinical features include jaundice, elevated blood levels of alkaline phosphatase, calcinosis cutis, telangiectasias, and pruritus. Raynaud's phenomenon may be an early clinical feature. The syndrome, a special case of scleroderma, is named after the American physician, Telfer B. Reynolds, MD (1921-2004), who first described it. He is also known for creating one of the world's first hepatology programs at the University of Southern California.
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