{"orpha":295000,"name":"Amniotic band syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ABS","Amniotic band sequence","Congenital constriction ring syndrome","Congenital ring constrictions","Constriction band syndrome","Streeter dysplasia"],"definition":"Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295000/","orphanet_url":"https://www.orpha.net/en/disease/detail/295000","names":{"fr":{"name":"Syndrome de brides amniotiques","synonyms":["MBA","Maladie des brides amniotiques","SBA","Syndrome d'anneaux de constriction"],"definition":"Le syndrome d'anneaux de constriction est un trouble malformatif congénital des membres. La présentation clinique est extrêmement variable et se caractérise par la présence de bandes/anneaux de constriction congénitaux, fibreux, circonférentiels, partiels ou complets au niveau de n'importe quelle partie du corps, malgré une prédilection particulière pour les extrémités supérieures et inférieures. Les phénotypes varient d'une légère indentation cutanée à l'amputation complète des parties du foetus (ex. doigts, membres distaux). La compression des anneaux peut induire un oedème, des anomalies squelettiques (ex. fractures, déformations des pieds) et rarement, une atteinte neuronale."},"de":{"name":"Schnürring-Syndrom","synonyms":["Amnion-Schnürfurchensyndrom","Amniotisches-Band-Syndrom","Kongenitale Schnürringe","Streeter-Dysplasie"],"definition":"Das Schnürring-Syndrom ist eine angeborene Fehlbildung der Gliedmaßen mit einer extrem variablen klinischen Präsentation. Es ist gekennzeichnet durch das Vorhandensein von partiellen bis vollständigen, angeborenen, faserigen, umlaufenden und ringförmigen Einschnürungsbändern/-ringen, die jedes Körperteil betreffen können, aber besonders häufig an den oberen oder unteren Extremitäten beobachtet werden. Die Phänotypen reichen von einer nur leichten Eindellung der Haut bis hin zur vollständigen Amputation von Teilen des Fötus (z. B. Zehen, distale Gliedmaße). Die Kompression durch die Ringe kann zu Ödemen, Skelettanomalien (z. B. Frakturen, Fußdeformitäten) und in seltenen Fällen zu neuralen Beeinträchtigungen führen."},"es":{"name":"Síndrome de anillos de constricción","synonyms":["Anillos de constricción congénitos","Displasia de Streeter","Secuencia de bandas amnióticas","Síndrome de bandas amnióticas","Síndrome de bandas de constricción"],"definition":"El síndrome de anillos de constricción, o síndrome de bridas amnióticas, es una malformación congénita de las extremidades, con una presentación clínica extremadamente variable. Se caracteriza por la presencia, ya desde el nacimiento, de bandas/anillos fibrosos circulares de constricción, parciales o completos, en cualquier parte del cuerpo, con particular predilección por las extremidades superiores o inferiores. Los fenotipos varían desde un leve surco cutáneo, hasta la amputación completa de partes del feto (p.ej. dedos, extremidades distales). La compresión de los anillos puede conducir a edema, anomalías esqueléticas (p.ej. fracturas, deformidades de los pies) y, raramente a compromiso neural."},"it":{"name":"Sindrome da anelli di costrizione","definition":"La sindrome da anelli di costrizione è una malformazione congenita degli arti; il quadro clinico è molto variabile ed è caratterizzato dalla presenza di fasce/anelli di costrizione parziali o completi, congeniti, fibrosi, disposti lungo la circonferenza del corpo, in particolare alle estremità superiori e inferiori. Il quadro clinico varia tra la lieve depressione della cute all'amputazione completa di parti del feto (dita, arti distali). La compressione esercitata dagli anelli può esitare nell'edema, nelle anomalie scheletriche (fratture, deformità dei piedi) e, raramente, nella compromissione neurologica."},"nl":{"name":"Constrictieringensyndroom","synonyms":["Amnionstreng-sequentie","Amnionstreng-syndroom","Congenitale ringconstricties","Constrictiebandsyndroom","Dysplasie van Streeter"],"definition":"Constrictieringensyndroom is een congenitale malformatie van de ledematen met een uiterst variabel klinisch beeld en wordt gekarakteriseerd door de aanwezigheid van gedeeltelijke tot volledige, congenitale, fibreuze, cirkelvormige constrictiebanden/-ringen op eender welke plaats op het lichaam, hoewel een sterke neiging voor de bovenste en onderste ledematen wordt waargenomen. Fenotypes gaan van enkel een milde indentatie van de huid tot volledige amputatie van delen van de foetus (e.g. vingers/tenen, distaal ledemaat). Compressie van de ringen kan leiden tot oedeem, skeletale anomalieën (e.g. fracturen, voetmisvormingen) en, weinig frequent, neurale schade."},"pt":{"name":"Síndrome de anéis de constrição"},"pl":{"name":"Zespół pasm owodni","synonyms":["ABS","Amniotic band sequence","Congenital constriction ring syndrome","Congenital ring constrictions","Constriction band syndrome","Streeter dysplasia"]},"cs":{"name":"Syndrom amniálních pruhů","synonyms":["Streeterova dysplázie","Syndrom vrozených konstrikčních pruhů"]},"uk":{"name":"Синдром амніотичної перетинки","synonyms":["ABS","Послідовність амніотичної стрічки","Синдром вродженого звужувального кільця","Вроджені кільцеві звуження","Синдром стягуючого бандажа","Дисплазія Стритера"],"definition":"Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise."},"zh":{"name":"收缩环带综合征","synonyms":["先天性收缩环"],"definition":"束带综合征是一种先天性肢体畸形，临床表现极为多样，其特征是躯体任意部位部分或完全性先天性纤维状、环状收缩带/环，尤其是上肢或下肢。表型从轻度皮肤压痕到胎儿肢体完全离断（如手指、远端肢体）。环状压迫可导致水肿、骨骼畸形（如骨折、足部畸形），偶见神经损伤。"},"tr":{"name":"Sıkışma halkaları sendromu","synonyms":["Streeter displazisi","Amniyotik bant dizisi","Amniyotik bant sendromu","Bant sıkışması sendromu","Doğumsal halka daralmaları"]}},"xrefs":[{"source":"OMIM","code":"217100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1033549095"},{"source":"MONDO","code":"0015167","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002636","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"429","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064100","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":68378,"name":"Congenital limb malformation","classifications":[147]},{"orpha":2416,"name":"Congenital primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.3,"area":"Europe","status":"Validated","source":"36584346[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-14","source":"31424867[PMID]_31407870[PMID]_25531236[PMID]","terms":[{"hpo":"HP:0010721","label":"Abnormal hair whorl","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010495","label":"Amniotic constriction rings of legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010491","label":"Digital constriction ring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010483","label":"Amniotic constriction rings of arms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002803","label":"Congenital contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5201015","label":"Craniofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001683","label":"Ectopia cordis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010742","label":"Edema of the upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001543","label":"Gastroschisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null}]}}