{"orpha":398073,"name":"Prader-Willi-like syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["PWS-like"],"definition":"A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398073/","orphanet_url":"https://www.orpha.net/en/disease/detail/398073","names":{"fr":{"name":"Syndrome de Prader-Willi-like","synonyms":["SPW-like"],"definition":"Groupe rare d'anomalies congénitales multiples/syndrome dysmorphique caractérisé par un trouble du spectre de l'autisme, un retard de développement, une déficience intellectuelle, une hyperphagie/obésité et une petite taille (manifestations cliniques se recoupant avec le syndrome de Prader-Willi). Il s'agit toutefois d'un groupe hétérogène sur le plan clinique et génétique, puisque les patients peuvent ne présenter aucune des manifestations cliniques classiques du syndrome de Prader-Willi, telles que la petite taille, l'hypotonie, l'hypogonadisme, l'hyperphagie et l'obésité morbide, ou n'en présenter que quelques-unes."},"de":{"name":"Prader-Willi-ähnliches Syndrom","definition":"Eine seltene Gruppe multipler angeborener Anomalien/Dysmorphien, die durch Autismus-Spektrum-Störung, Entwicklungsverzögerung, Intelligenzminderung, Hyperphagie/Adipositas und Kleinwuchs gekennzeichnet ist (klinische Merkmale, die sich mit dem Prader-Willi-Syndrom überschneiden). Es handelt sich jedoch um eine klinisch und genetisch heterogene Gruppe, bei der einige der klassischen klinischen Merkmale des Prader-Willi-Syndroms wie Kleinwuchs, Hypotonie, Hypogonadismus, Hyperphagie und morbide Adipositas völlig fehlen oder nur bei einer Minderheit auftreten können."},"es":{"name":"Síndrome similar a Prader-Willi","synonyms":["Similar a PWS","Síndrome de Prader-Willi-like"],"definition":"Es un grupo poco frecuente de síndromes dismórficos/ anomalías congénitas múltiples caracterizado por trastornos del espectro autista, retraso del desarrollo, discapacidad intelectual, hiperfagia/obesidad y talla baja (características clínicas que se superponen con el síndrome de Prader-Willi). Sin embargo, es un grupo clínica- y genéticamente heterogéneo en el que coexisten pacientes asintomáticos y pacientes que manifiestan características clínicas clásicas del síndrome de Prader-Willi como talla baja, hipotonía, hipogonadismo, hiperfagia y obesidad mórbida."},"it":{"name":"Sindrome Prader-Willi-simile","synonyms":["PWS-simile"],"definition":"La Sindrome Prader-Willi-simile è un'endocrinopatia genetica rara, caratterizzata dal quadro clinico della sindrome di Prader-Willi (obesità, iperfagia, ipotonia, ritardo psicomotorio, disabilità intellettiva, mani/piedi piccoli, ipogonadismo, deficit dell'ormone della crescita e dismorfismi facciali caratteristici), in assenza delle anomalie genomiche della regione 15q11-q13."},"nl":{"name":"Prader-Willi-achtig syndroom","synonyms":["PWS-achtig"],"definition":"Een zeldzame groep van syndromen met multipele congenitale anomalieën/dysmorfie, gekenmerkt door autismespectrumstoornis, ontwikkelingsachterstand, intellectuele achterstand, hyperfagie/obesitas, en kleine gestalte (klinische kenmerken die overlappen met syndroom van Prader-Willi). Het gaat echter om een klinisch en genetisch heterogene groep waarbij patiënten geen enkel of een minderheid van de klassieke kenmerken van syndroom van Prader-Willi vertonen, zoals kleine gestalte, hypotonie, hypogonadisme, hyperfagie en morbide obesitas."},"pt":{"name":"Síndrome Prader-Willi-like","definition":"Grupo raro de anomalias congénitas múltiplas/síndrome dismórfica caracterizada por transtorno do comportamento do espectro autista, atraso no desenvolvimento, perturbação do desenvolvimento intelectual, hiperfagia/obesidade e baixa estatura (características clínicas que se sobrepõem à síndrome Prader-Willi). No entanto, é um grupo clinicamente e geneticamente heterogêneo, onde os doentes podem não ter ou manifestar em minoria algumas características clínicas clássicas da síndrome Prader-Willi, como baixa estatura, hipotonia, hipogonadismo, hiperfagia e obesidade mórbida."},"pl":{"name":"Zespół podobny do zespołu Pradera i Willego","synonyms":["Zespół podobny do PWS"],"definition":"Rzadki zespół mnogich wad wrodzonych/zespół dysmorficzny charakteryzujący się zaburzeniami ze spektrum autyzmu, opóźnieniem rozwoju, niepełnosprawnością intelektualną, hiperfagią/otyłością i niskim wzrostem (cechy kliniczne pokrywające się z zespołem Pradera-Williego). Jest to jednak grupa heterogenna klinicznie i genetycznie, w której u pacjentów mogą być nieobecne / występować tylko niektóre klasyczne cechy kliniczne zespołu Pradera-Williego, takie jak niski wzrost, hipotonia, hipogonadyzm, hiperfagia i chorobliwa otyłość."},"cs":{"name":"Syndrom Prader-Willi-like","synonyms":["PWS-like"]},"uk":{"name":"Синдром Прадера-Віллі","synonyms":["PWS-подібні"],"definition":"A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity."},"zh":{"name":"普拉德-威利样综合征","synonyms":["类PWS"],"definition":"普拉德-威利样综合征是一种罕见的遗传性内分泌疾病，其特征是在没有15q11-q13基因组异常的情况下出现普拉德-威利综合征表型(包括肥胖、食欲过盛、肌张力低下、精神运动迟缓、智力障碍、手脚小、性腺功能减退、生长激素缺乏和特征性面部特征)。"},"tr":{"name":"Prader-Willi benzeri sendrom","synonyms":["PWS benzeri"]}},"xrefs":[{"source":"MONDO","code":"0018354","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809877","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":399846,"name":"Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism","classifications":[156,201]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[{"orpha":171829,"name":"6q16 microdeletion syndrome","type":"Disease"},{"orpha":633028,"name":"CPE-related Prader-Willi-like syndrome","type":"Disease"},{"orpha":398079,"name":"SIM1-related Prader-Willi-like syndrome","type":"Disease"},{"orpha":398069,"name":"Schaaf-Yang syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":117.0,"area":"Worldwide","status":"Validated","source":"24737477[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24737477[PMID]"}],"phenotypes":null}