{"orpha":633004,"name":"KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diets-Jongmans Syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominant nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to <i>KDM3B</i> mutations. Neonatal feeding difficulties, childhood hypotonia, and behaviour problems were also reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-633004/","orphanet_url":"https://www.orpha.net/en/disease/detail/633004","names":{"fr":{"name":"Syndrome de déficience intellectuelle-dysmorphie faciale-petite taille associé à KDM3B","synonyms":["Syndrome de Diets-Jongmans"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une déficience intellectuelle légère ou modérée, un retard de développement, une petite taille et une dysmorphie faciale (oreilles de forme allongée, pointe nasale proéminente, columelle basse, lèvre supérieure fine, bouche large et menton proéminent) due à des mutations du gène <i>KDM3B</i>. Des difficultés à s'alimenter chez les nouveau-nés, une hypotonie infantile et des troubles du comportement ont par ailleurs été rapportés chez certains patients."},"de":{"name":"KDM3B-assoziierte Intelligenzminderung mit Gesichtsdysmorphien und Kleinwuchs","synonyms":["Diets-Jongmans-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch leichte bis mittelschwere Intelligenzminderung, Entwicklungsverzögerung, Kleinwuchs und Gesichtsdysmorphien (lange Ohren, markante Nasenspitze, niedrige Columella, dünne Oberlippe, breiter Mund und markantes Kinn) aufgrund von Mutationen im <i>KDM3B</i>-Gen gekennzeichnet ist. Bei einigen Patienten wurden auch Schwierigkeiten bei der Ernährung im Neugeborenenalter, Hypotonie im Kindesalter und Verhaltensauffälligkeiten beobachtet."},"es":{"name":"Síndrome de discapacidad intelectual-dismorfia facial-talla baja asociado a KDM3B","synonyms":["Síndrome de Diets-Jongmans"],"definition":"Es un síndrome dismórfico/ de múltipleas anomalías congénitas poco frecuente caracterizado por discapacidad intelectual leve o moderada, retraso del desarrollo, talla baja y dismorfia facial (orejas alargadas, punta nasal prominente, columela baja, labio superior delgado, boca amplia y mentón prominente) debido a mutaciones en el gen <i>KDM3B</i>. En algunos pacientes también se han descrito dificultades de alimentación en el periodo neonatal, hipotonía infantil y trastornos de la conducta."},"it":{"name":"Sindrome da disabilità intellettiva-dismorfismi facciali-bassa statura correlata a KDM3B","synonyms":["Sindrome di Diets-Jongmans"]},"nl":{"name":"KDM3B-gerelateerd intellectuele achterstand - faciale dysmorfie - kleine gestalte-syndroom","synonyms":["Syndroom van Diets-Jongmans"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door milde of matige intellectuele achterstand, ontwikkelingsachterstand, kleine gestalte en faciale dysmorfie (lange oren, prominente neuspunt, lage columella, dunne bovenlip, brede mond en prominente kin) door <i>KDM3B</i>-mutaties. Neonatale voedingsproblemen, hypotonie in de kindertijd, en gedragsproblemen werden ook reeds gerapporteerd bij sommige patiënten."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-dismorfismo facial-baixa estatura KDM3B-relacionada","synonyms":["Síndrome Diets-Jongmans"]},"pl":{"name":"Związany z KDM3B zespół niepełnosprawności intelektualnej, dysmorfii twarzy i niskiego wzrostu","synonyms":["Diets-Jongmans Syndrome"],"definition":"Rzadki zespół mnogich wad / zespół dysmorficzny charakteryzujący się łagodną lub umiarkowaną niepełnosprawnością intelektualną, opóźnieniem rozwoju, niskim wzrostem i dysmorfią twarzy (długie uszy, wydatny czubek nosa, niska schodząca kolumienka, cienka górna warga, szerokie usta i wystający podbródek) wskutek mutacji w genie KDM3B. U niektórych pacjentów zgłaszano również trudności w karmieniu w okresie noworodkowym, obniżone napięcie mięśniowe oraz zaburzenia zachowania."},"cs":{"name":"Syndrom související s KDM3B zahrnující mentální retardaci, obličejovou dysmorfii a malý vzrůst","synonyms":["Diets-Jongmans Syndrome"]},"uk":{"name":"KDM3B-повязаний синдром інтелектуальної недостатності-дисморфізму обличчя-низькорослості","synonyms":["Синдром Дієти-Йонгманса"]}},"xrefs":[{"source":"OMIM","code":"618846","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0858999","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394263","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"KDM3B","name":"lysine demethylase 3B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30929739[PMID]","hgnc":"1337","ensembl":"ENSG00000120733","omim":"609373","loci":["5q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"30929739[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30929739[PMID]_ORPHANET"}],"phenotypes":null}