{"orpha":2840,"name":"Pelvic dysplasia-arthrogryposis of lower limbs syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ray-Peterson-Scott syndrome"],"definition":"Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2840/","orphanet_url":"https://www.orpha.net/en/disease/detail/2840","names":{"fr":{"name":"Syndrome de dysplasie du pelvis-pseudoarthrogrypose","synonyms":["Syndrome de Ray-Peterson-Scott"],"definition":"Syndrome de dysostose rare d'origine génétique caractérisé par un retard de croissance intra-utérin, une petite taille (avec un segment inférieur court), des contractures articulaires des membres inférieurs et une hypotrophie musculaire, un bassin étroit et petit, une hyperlordose lombaire avec scoliose et une déformation des pieds (orteils courts et chevauchants). L'imagerie met en évidence des corps vertébraux ovoïdes/cunéiformes, une hypoplasie pelvienne et squelettique avec fusion métatarsienne dans les membres inférieurs, mais un crâne et des membres supérieurs normaux."},"de":{"name":"Pelvis Dysplasie - Pseudoarthrogrypose","synonyms":["Pelvisdysplasie - Arthrogrypose der unteren Extremitäten","Ray-Peterson-Scott-Syndrom"]},"es":{"name":"Síndrome de displasia pélvica-pseudoartrogriposis de las extremidades inferiores","synonyms":["Síndrome de Ray-Peterson-Scott"],"definition":"Es un síndrome poco frecuente de disostosis de origen genético caracterizado por restricción del crecimiento intrauterino, talla baja (con reducción del segmento inferior), contracturas articulares de las extremidades inferiores e hipotrofia muscular, pelvis estrecha y pequeña, hiperlordosis lumbar con escoliosis y deformidad del pie (dedos cortos y superpuestos). Los estudios de imagen revelan cuerpos vertebrales ovoides / en forma de cuña, hipoplasia pélvica y esquelética, con fusión metatarsiana en las extremidades inferiores, y cráneo y extremidades superiores normales."},"it":{"name":"Displasia pelvica - artrogriposi degli arti inferiori","definition":"La sindrome da displasia pelvica e artrogriposi degli arti inferiori è una malattia genetica rara da disostosi, caratterizzata da ritardo della crescita prenatale, bassa statura (con accorciamento del segmento inferiore), contratture delle articolazioni degli arti inferiori, ipotrofia muscolare, pelvi piccola e stretta, iperlordosi lombare, scoliosi e deformità dei piedi (dita corte e sovrapposte). Le immagini diagnostiche evidenziano corpi vertebrali di forma ovoidale/cuneiformi e ipoplasia pelvica e scheletrica con fusione dei metatarsi, mentre il cranio e gli arti superiori sono normali."},"nl":{"name":"Bekkendysplasie - artrogrypose van onderste ledematen-syndroom","synonyms":["Syndroom van Ray-Peterson-Scott"],"definition":"Bekkendysplasie - artrogrypose van de onderste ledematen-syndroom is een zeldzaam, genetisch dysostosesyndroom dat gekarakteriseerd wordt door intra-uteriene groeirestrictie, kleine gestalte (met klein onderste segment), gewrichtscontracturen en musculaire hypotrofie van de onderste ledematen, smal en klein bekken, lumbale hyperlordose met scoliose, en voetmisvorming (kleine, overlappende tenen). Beeldvorming toont ei-/wigvormige wervellichamen, hypoplasie van bekken en skelet met metatarsale fusie in de onderste ledematen, en normale schedel en bovenste ledematen."},"pt":{"name":"Síndrome de displasia pélvica-artrogripose dos membros inferiores","synonyms":["Síndrome Ray-Peterson-Scott"]},"pl":{"name":"Dysplazja miednicy - artrogrypoza kończyn dolnych","synonyms":["Zespół Ray'a, Petersona i Scotta"]},"cs":{"name":"Syndrom zahrnující pánevní dysplázii a artrogrypózu dolních končetin","synonyms":["Rayové-Petersonův-Scottův syndrom","Ray-Peterson-Scottův syndrom"]},"uk":{"name":"Синдром тазової дисплазії-артрогрипозу нижніх кінцівок","synonyms":["Синдром Рея-Пітерсона-Скотта"],"definition":"Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs."},"zh":{"name":"骨盆发育不良-下肢关节挛缩综合征","synonyms":["Ray-Peterson-Scott综合征"]},"tr":{"name":"Pelvik displazi-artrogripozisi alt ekstremite sendromu","synonyms":["Ray-Peterson-Scott sendromu"]}},"xrefs":[{"source":"OMIM","code":"602484","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011235","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535292","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930869","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4269","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"9489787[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9489787[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008839","label":"Hypoplastic pelvis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010767","label":"Sacrococcygeal pilonidal abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null}]}}