{"orpha":294049,"name":"Reunion Island Larsen-like syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome","url":"https://raremap.alftech.space/d/ORPHA-294049/","orphanet_url":"https://www.orpha.net/en/disease/detail/294049","names":{"fr":{"name":"Syndrome Larsen-like de la Réunion","synonyms":["Luxations articulaires multiples-petite taille-hyperlaxité-dysmorphie craniofaciale syndrome"]},"de":{"name":"Reunion Insel-Variante des Larsen-Syndroms","synonyms":["Multiple Gelenkdislokationen-Kleinwuchs-Gelenkinstabilität-kraniofaziale Dysmorphien-Syndrom"]},"es":{"name":"Síndrome similar a Larsen de la isla de la Reunión","synonyms":["Síndrome de Larsen-like de la isla de la Reunión","Síndrome de múltiples luxaciones articulares-talla baja-hiperlaxitud-dismorfia craneofacial"]},"it":{"name":"Sindrome di Larsen dell'Isola di Réunion","synonyms":["RLS","Sindrome dislocazioni articolari multiple-bassa statura-iperlassità-dismorfismi craniofacciali"]},"nl":{"name":"Larsen-achtig syndroom van Réunion","synonyms":["Multipele gewrichtsluxaties - kleine gestalte - hyperlaxiteit - craniofaciale dysmorfie-syndroom"]},"pt":{"name":"Síndrome Larsen da ilha da Reunião"},"pl":{"name":"Zespół Larsena wyspy Reunion","synonyms":["RLS","Zespół mnogich przemieszczeń stawów, niskiego wzrostu, nadmiernej luźności w stawach i dysmorfii czaszkowo-twarzowej"]},"cs":{"name":"Larsenův syndrom z ostrova Reunion","synonyms":["RLS","Syndrom zahrnující mnohočetné dislokace kloubů, hyperlaxitu a kraniofaciální dysmorfismus"]},"uk":{"name":"Ларсен-подібний синдром з острова Реюньйон","synonyms":["Синдром множинних вивихів суглобів - низькорослості - гіперлабільності - черепно-лицевого дисморфізму"]},"zh":{"name":"留尼汪岛Larsen样综合征","synonyms":["多发性关节脱位-身材矮小-颅面畸形综合征"],"definition":"一种罕见的遗传性先天性糖基化疾病，其特征是重度产前和产后身材矮小，关节过度松弛伴有多处脱臼（肘部、手指、臀部、膝盖）和面部畸形（扁平圆脸、额头高、眼距过宽、凸眼和眼下阴影、面中部发育不良、小口畸形，嘴唇突出）。其他相关特征可能包括皮肤过度伸展、学习困难和眼部异常。影像学上可见晚期腕骨骨化、干骺端增宽，偶有尺桡骨性融合、脊柱侧弯和股骨近端瑞典人典型外貌。"},"tr":{"name":"Reunion Adası Larsen-benzeri sendrom","synonyms":["Çoklu eklem çıkıkları-kısa boy-hiperlaksite-kraniyofasiyal dismorfizm sendromu"]}},"xrefs":[],"associations":[{"type":"Moved to","orpha":75496,"name":"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}