{"orpha":3206,"name":"Stüve-Wiedemann syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Neonatal Schwartz-Jampel syndrome","SJS2","STWS","SWS","Schwartz-Jampel syndrome type 2","Stüve-Wiedemann dysplasia","Stüve-Wiedemann syndrome type 1"],"definition":"Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3206/","orphanet_url":"https://www.orpha.net/en/disease/detail/3206","names":{"fr":{"name":"Syndrome de Stüve-Wiedemann","synonyms":["Dysplasie de Stüve-Wiedemann","SJS2","STWS","SWS","Syndrome Schwartz-Jampel néonatal","Syndrome Schwartz-Jampel type 2","Syndrome de Stüve-Wiedemann type 1"],"definition":"Dysplasie squelettique primaire congénitale autosomique récessive rare, caractérisée par une petite taille, une courbure des os longs, une camptodactylie, des épisodes d'hyperthermie, des épisodes de détresse respiratoire/apnéique et des difficultés à s'alimenter, conduisant généralement à un décès précoce."},"de":{"name":"Stüve-Wiedemann-Syndrom","synonyms":["SJS2","STWS","SWS","Schwartz-Jampel-Syndrom Typ 2","Schwartz-Jampel-Syndrom, neonatales","Stüve-Wiedemann Dysplasie","Stüve-Wiedemann-Syndrom Typ 1"],"definition":"Das Stüve-Wiedemann-Syndrom (SWS) ist eine seltene, autosomal-rezessive primäre Skelettdysplasie, die durch Kleinwuchs, Verkrümmung der Röhrenknochen, Kamptodaktylie, hyperthermische Episoden, Atemnot/Apnoe-Episoden und Fütterungsschwierigkeiten gekennzeichnet ist, die in der Regel zu einer frühen Mortalität führen."},"es":{"name":"Síndrome de Stüve-Wiedemann","synonyms":["Displasia de Stüve-Wiedemann","SJS2","Síndrome de Schwartz-Jampel neonatal","Síndrome de Schwartz-Jampel tipo 2","Síndrome de Stüve-Wiedemann tipo 1"],"definition":"Es una displasia esquelética primaria congénita autosómica recesiva poco frecuente. Se caracteriza por talla baja, arqueamiento de los huesos largos, camptodactilia, episodios de hipertermia, insuficiencia respiratoria / episodios apnéicos y dificultades en la alimentación que conducen, por lo general, a una mortalidad temprana."},"it":{"name":"Sindrome di Stuve-Wiedemann","synonyms":["Displasia di Stuve-Wiedemann","SJS2","STWS","SWS","Sindrome di Schwartz-Jampel neonatale","Sindrome di Schwartz-Jampel tipo 2","Sindrome di Stuve-Wiedemann tipo 1"],"definition":"La sindrome di Stüve-Wiedemann (SWS) è una displasia scheletrica primitiva rara, a trasmissione autosomica recessiva, caratterizzata da bassa statura, incurvatura delle ossa lunghe, camptodattilia, episodi di ipertermia, distress respiratorio/episodi apnoici e difficoltà di alimentazione, che di solito esitano nella morte prematura."},"nl":{"name":"Syndroom van Stüve-Wiedemann","synonyms":["Dysplasie van Stüve-Wiedemann","Neonataal syndroom van Schwartz-Jampel","SJS2","STWS","SWS","Syndroom van Schwartz-Jampel type 2"],"definition":"Syndroom van Stüve-Wiedemann (SWS) is en zeldzame, autosomaal recessieve, congenitale primaire skeletdysplasie die gekarakteriseerd wordt door een kleine gestalte, buiging van de pijpbeenderen, camptodactylie, hyperthermische episodes, ademnood/apneu-episodes en voedingsproblemen met meestal een vroege mortaliteit als resultaat."},"pt":{"name":"Síndrome Stüve-Wiedemann","synonyms":["Displasia Stüve-Wiedemann","SJS2","STWS","SWS","Síndrome Schwartz-Jampel neonatal"]},"pl":{"name":"Zespół Stüve'a i Wiedemanna","synonyms":["Dysplazja Stüve'a i Wiedemanna"]},"cs":{"name":"Stüveové-Wiedemannův syndrom","synonyms":["SJS2","Stüveové-Wiedemannova dysplázie","Neonatální Schwartzův-Jampelův syndrom","Schwartzův-Jampelův syndrom, typ 2","Stüveové-Wiedemannův/Schwartzův-Jampelův syndrom, typ 2","Stüve-Wiedemannův syndrom","Neonatální Schwartz-Jampelův syndrom","Schwartz-Jampelův syndrom, typ 2","Stüve-Wiedemannova dysplázie","Stüve-Wiedemannův/Schwartz-Jampelův syndrom, typ 2"]},"uk":{"name":"Синдром Стюве-Відемана","synonyms":["Синдром Шварца-Ямпеля у новонароджених","Синдром Шварца-Ямпеля, тип 2","SJS2","Дисплазія Штюве-Відемана","Синдром Стьюве-Відемана, тип 1","STWS","SWS"],"definition":"Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality."},"zh":{"name":"St³ve-Wiedemann综合征","synonyms":["新生儿Schwartz-Jampel综合征"]},"tr":{"name":"Stüve-Wiedemann sendromu","synonyms":["SJS2","Stüve-Wiedemann displazisi","Schwartz-Jampel sendromu tip 2","Yenidoğan Schwartz-Jampel sendromu"]}},"xrefs":[{"source":"OMIM","code":"601559","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"545451143"},{"source":"MONDO","code":"0800043","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537502","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796176","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5045","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93439,"name":"Campomelic dysplasia and related disorders","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"LIFR","name":"LIF receptor subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24618404[PMID]","hgnc":"6597","ensembl":"ENSG00000113594","omim":"151443","loci":["5p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19207241[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":56.0,"area":"Worldwide","status":"Validated","source":"19207241[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"United Arab Emirates","status":"Validated","source":"21337444[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000935","label":"Thickened cortex of long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010298","label":"Smooth tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006844","label":"Absent patellar reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008000","label":"Decreased corneal reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100028","label":"Ectopic thyroid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null}]}}