Axenfeld–Rieger syndrome (original) (raw)
متلازمة أكسينفيلد ريجر (بالإنجليزية: Axenfeld–Rieger syndrome) هي اضطراب وراثي جسمي سائد نادر يؤثر على نمو الأسنان والعينين ومنطقة البطن.
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| dbo:abstract | متلازمة أكسينفيلد ريجر (بالإنجليزية: Axenfeld–Rieger syndrome) هي اضطراب وراثي جسمي سائد نادر يؤثر على نمو الأسنان والعينين ومنطقة البطن. (ar) Der Begriff Rieger-Syndrom (Syn. Irido-Dentale-Dysplasie, Axenfeld-Syndrom, Rieger-Axenfeld-Syndrom und Dysgenesis mesodermalis corneae et iridis) bezeichnet eine Hemmungsmissbildung des Mesoderms aufgrund einer Genmutation. Das Syndrom wird autosomal-dominant vererbt. Betroffen sind die Chromosomen 4, 6, 11 und 18, konkret sind derzeit die Genorte 4q25-27, 13q14, 6p25 und 6q24 bekannt. (de) Axenfeld–Rieger syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region. Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis. Although the exact classification of this set of signs and symptoms is somewhat confusing in current scientific literature, most authors agree with the classification cited here. Axenfeld Anomaly is known as the development of a posterior embryotoxon, associated with strands of the iris adhered to a Schwalbe line that has been displaced anteriorly, which when added to glaucoma is called Axenfeld Syndrome. Rieger's Anomaly is defined by a universe of congenital anomalies of the iris, such as iris hypoplasia, corectopia or polycoria. When systemic findings are added to Rieger's anomaly, such as bone, facial and/or dental defects, it is known as Rieger syndrome. The combination of both entities gives rise to the Axenfeld-Rieger Anomaly when there are no systemic abnormalities and Axenfeld-Rieger Syndrome when there are. Axenfeld-Rieger Syndrome, is a rare disease that affects the eye bilaterally, with an estimated prevalence of 1/200,000 people, without gender predilection, and is characterized by autosomal dominant inheritance with complete penetrance of variable expressivity. The genes that have been identified in approximately 50% of cases are PITX2 and FOXC1. Given the important hereditary factor, it is important to evaluate the most direct members of the family. To explain the ocular alterations, there is a theory of the mechanism postulated by Shields et al., which implies an arrest in the migration of neural crest cells towards the third trimester of gestation, which leads to the persistence of primordial endothelial tissue in the iris and anterior chamber angle. Contraction of these membranes after birth lead to the progressive changes seen in some patients. This primordial endothelium also generates an excessive and atypical basement membrane, especially near the limbal corneal junction, which accounts for the prominent Schwalbe line. In the case of secondary glaucoma, it would be the consequence of dysgenesis in the chamber sinus. (en) La sindrome di Rieger è una malattia genetica a trasmissione autosomica dominante caratterizzata da anomalie facciali multiple. (it) Zespół Axenfelda-Riegera (ang. Axenfeld-Rieger syndrome, ARS) – zespół wad wrodzonych, charakteryzujący się występowaniem obustronnych wad przedniego odcinka oka skojarzonych z wadami rozwojowymi zębów, środkowej części twarzy i jamy brzusznej. Większość przypadków zespołu wiąże się z mutacjami genów lub . Zespół opisali niezależnie od siebie Theodor Axenfeld i . (pl) Het syndroom van Rieger is een aangeboren afwijking met afwijkingen aan het gezicht, de ogen en het gebit. Het is een erfelijke afwijking die autosomaal dominant overerft. Naar schatting 1 op de 200.000 mensen heeft het syndroom van Rieger. (nl) Axenfeld-Riegers syndrom är ett sjukdomstillstånd som kännetecknas av medfödda avvikelser i tänder och ögats främre del, men det kan även innebära avvikelser i andra organ. En vanlig komplikation vid Axenfeld-Riegers syndrom är grön starr (glaukom) som förekommer hos ungefär hälften av dem som utvecklat sjukdomen. Uppskattningsvis har 5 personer på 1 miljon syndromet i Sverige, alltså ungefär 40 personer på hela populationen. Behandling av sjukdomen kan till exempel innebära att barn får bära en lapp för det öga som har bättre syn för att stimulera det sämre. Sjukdomen är ärftlig. (sv) |
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| dbp:caption | a) Microdontia and hypodontia. b) Slit pupil and iris atrophy right eye. c) Corectopia with iris atrophy left eye. d) Posterior embryotoxon right eye. e) Posterior embryotoxon left eye. f) Broad peripheral anterior synechiae right eye. (en) |
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| dbp:synonyms | Axenfeld syndrome, Hagedoom syndrome (en) |
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| rdfs:comment | متلازمة أكسينفيلد ريجر (بالإنجليزية: Axenfeld–Rieger syndrome) هي اضطراب وراثي جسمي سائد نادر يؤثر على نمو الأسنان والعينين ومنطقة البطن. (ar) Der Begriff Rieger-Syndrom (Syn. Irido-Dentale-Dysplasie, Axenfeld-Syndrom, Rieger-Axenfeld-Syndrom und Dysgenesis mesodermalis corneae et iridis) bezeichnet eine Hemmungsmissbildung des Mesoderms aufgrund einer Genmutation. Das Syndrom wird autosomal-dominant vererbt. Betroffen sind die Chromosomen 4, 6, 11 und 18, konkret sind derzeit die Genorte 4q25-27, 13q14, 6p25 und 6q24 bekannt. (de) La sindrome di Rieger è una malattia genetica a trasmissione autosomica dominante caratterizzata da anomalie facciali multiple. (it) Zespół Axenfelda-Riegera (ang. Axenfeld-Rieger syndrome, ARS) – zespół wad wrodzonych, charakteryzujący się występowaniem obustronnych wad przedniego odcinka oka skojarzonych z wadami rozwojowymi zębów, środkowej części twarzy i jamy brzusznej. Większość przypadków zespołu wiąże się z mutacjami genów lub . Zespół opisali niezależnie od siebie Theodor Axenfeld i . (pl) Het syndroom van Rieger is een aangeboren afwijking met afwijkingen aan het gezicht, de ogen en het gebit. Het is een erfelijke afwijking die autosomaal dominant overerft. Naar schatting 1 op de 200.000 mensen heeft het syndroom van Rieger. (nl) Axenfeld-Riegers syndrom är ett sjukdomstillstånd som kännetecknas av medfödda avvikelser i tänder och ögats främre del, men det kan även innebära avvikelser i andra organ. En vanlig komplikation vid Axenfeld-Riegers syndrom är grön starr (glaukom) som förekommer hos ungefär hälften av dem som utvecklat sjukdomen. Uppskattningsvis har 5 personer på 1 miljon syndromet i Sverige, alltså ungefär 40 personer på hela populationen. Behandling av sjukdomen kan till exempel innebära att barn får bära en lapp för det öga som har bättre syn för att stimulera det sämre. Sjukdomen är ärftlig. (sv) Axenfeld–Rieger syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region. Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis. Although the exact classification of this set of signs and symptoms is somewhat confusing in current scientific literature, most authors agree with the classification cited here. Axenfeld Anomaly is known as the development of a posterior embryotoxon, associated with strands of the iris adhered to a Schwalbe line that has been displaced anteriorly, which when added to glaucoma is called Axenfeld Syndrome. Rieger's Anomaly i (en) |
| rdfs:label | متلازمة أكسينفيلد ريجر (ar) Rieger-Syndrom (de) Axenfeld–Rieger syndrome (en) Sindrome di Rieger (it) Zespół Axenfelda-Riegera (pl) Syndroom van Rieger (nl) Axenfeld-Riegers syndrom (sv) |
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