ReNU syndrome is a rare genetic neurodevelopmental disorder caused by variants in the RNU4-2 gene, characterized by developmental delay, intellectual disability, and microcephaly. First identified in 2024, it affects brain function, growth, and physical coordination.
Resistance tLH (luteinizing hrmne): A genetic abnrmality where the bdy is unable trespnd tluteinizing hrmne which affects varian and testicular functin.
Resistance tthyrid stimulating hrmne: A very rare disrder where the bdy is unable trespnd tthyrid stimulating hrmne even thugh it is present in sufficient quantities. The prblem lies in defective thyrid stimulating hrmne receptrs.
A Respiratory Chain Deficiency Malfrmatins annymus supprt grup with infrmatin n diagnsis, treatment, symptms, alng with persnal stries and experiences with Respiratory Chain Deficiency Malfrmatins.
Respiratory distress syndrome in infant is a syndrome in premature infants caused by developmental insufficiency of surfactant production and structural immaturity in the lungs. It can also be a consequence of neonatal infection. It can also result from a genetic problem with the production of surfactant associated proteins. IRDS affects about 1% of newborn infants and is the leading cause of death in preterm infants. The incidence decreases with advancing gestational age, from about 50% in babies born at 26–28 weeks, to about 25% at 30–31 weeks. The syndrome is more frequent in infants of diabetic mothers and in the second born of premature twins. IRDS is distinct from pulmonary hypoplasia, another leading cause of neonatal death that involves respiratory distress.
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
Restless legs syndrome (RLS, Wittmaack-Ekbm's syndrome, r smetimes, but inaccurately, referred t as Ncturnal myclnus) is a cnditin that is characterized by an irresistible urge t mve ne's bdy t stp uncmfrtable r dd sensatins. It mst cmmnly affects the legs, but can als affect the arms r trs. Mving the affected bdy part mdulates the sensatins, prviding temprary relief. RLS causes a sensatin in the legs r arms that can mst clsely be cmpared t a burning, itching, r tickling sensatin in the muscles. Sme cntrversy surrunds the marketing f drug treatments fr RLS.
Restless legs syndrome (RLS, Wittmaack-Ekbm's syndrome, r smetimes, but inaccurately, referred t as Ncturnal myclnus) is a cnditin that is characterized by an irresistible urge t mve ne's bdy t stp uncmfrtable r dd sensatins. It mst cmmnly affects the legs, but can als affect the arms r trs. Mving the affected bdy part mdulates the sensatins, prviding temprary relief. RLS causes a sensatin in the legs r arms that can mst clsely be cmpared t a burning, itching, r tickling sensatin in the muscles. Sme cntrversy surrunds the marketing f drug treatments fr RLS.
Restless legs syndrome (RLS, Wittmaack-Ekbm's syndrome, r smetimes, but inaccurately, referred t as Ncturnal myclnus) is a cnditin that is characterized by an irresistible urge t mve ne's bdy t stp uncmfrtable r dd sensatins. It mst cmmnly affects the legs, but can als affect the arms r trs. Mving the affected bdy part mdulates the sensatins, prviding temprary relief. RLS causes a sensatin in the legs r arms that can mst clsely be cmpared t a burning, itching, r tickling sensatin in the muscles. Sme cntrversy surrunds the marketing f drug treatments fr RLS.
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
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".