{"orpha":369881,"name":"2p21 microdeletion syndrome without cystinuria","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(2)(p21) without cystinuria"],"definition":"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369881/","orphanet_url":"https://www.orpha.net/en/disease/detail/369881","names":{"fr":{"name":"Syndrome de microdélétion 2p21 sans cystinurie","synonyms":["Del(2)(p21) sans cystinurie"],"definition":"Monosomie partielle rare des autosomes caractérisée par de faibles mouvements foetaux, une hypotonie infantile sévère et des difficultés à s'alimenter qui s'améliorent spontanément avec le temps, des anomalies urogénitales (hypospadias ou hypoplasie des grandes lèvres), un retard de développement global, une déficience intellectuelle légère et une dysmorphie faciale (dolichocéphalie, front proéminent, ptosis bilatéral, rétrusion de l'étage moyen du visage, bouche ouverte avec vermillon de la lèvre supérieure en forme de tente). Les patients présentent des taux élevés de lactate sérique, mais pas de cystinurie."},"de":{"name":"2p21-Mikrodeletionssyndrom ohne Cystinurie","synonyms":["Del(2)(p21) ohne Cystinurie"]},"es":{"name":"Síndrome de microdeleción 2p21 sin cistinuria","synonyms":["Del(2)(p21) sin cistinuria"],"definition":"El síndrome de microdeleción 2p21 sin cistinuria, es una anomalia cromosómica poco frecuente caracterizada por disminución de los movimientos fetales, hipotonía tras el nacimiento y dificultades en la alimentación que mejoran espontáneamente con el tiempo, anomalías urogenitales (hipospadias o labios mayores hipoplásicos), retraso global del desarrollo, leve discapacidad intelectual y dismorfia facial (dolicocefalia, frente prominente, ptosis bilateral, retrusión mediofacial, boca abierta con bermellón labial superior arqueado). Los afectados tienen niveles elevados de lactato sérico, pero no presentan cistinuria."},"it":{"name":"Sindrome da microdelezione 2p21 senza cistinuria","synonyms":["Del(2)(p21) senza cistinuria"],"definition":"La sindrome da microdelezione 2p21 senza cistinuria è una monosomia autosomica parziale rara, caratterizzata da movimenti fetali deboli, ipotonia neonatale grave e difficoltà di alimentazione che migliorano spontaneamente nel tempo, anomalie urogenitali (ipospadia o ipoplasia delle grandi labbra), ritardo dello sviluppo globale, disabilità intellettiva lieve e dismorfismi facciali (dolicocefalia, fronte bombata, ptosi bilaterale, retrusione medio-facciale, bocca aperta con porzione mucosa del labbro superiore ''a tenda''). I pazienti presentano livelli borderline-elevati di lattato nel siero, in assenza di cistinuria."},"nl":{"name":"2p21-microdeletiesyndroom zonder cystinurie","synonyms":["Del(2)(p21) zonder cystinurie"],"definition":"2p21 microdeletiesyndroom zonder cystinurie is een zeldzame partiële autosomale monosomie, en wordt gekarakteriseerd door zwakke foetale bewegingen, ernstige infantiele hypotonie en voedingsproblemen die na verloop van tijd spontaan verbeteren, urogenitale afwijkingen (hypospadieën of hypoplastische buitenste schaamlippen), algehele ontwikkelingsachterstand, milde intellectuele achterstand en faciale dysmorfie (dolichocefalie, boller voorhoofd, bilaterale ptose, terugliggend middengezicht, open mond met tentvormig vermiljoen van de bovenlip). Getroffen individuen hebben een marginaal verhoogd lactaatgehalte in het serum maar geen cystinurie."},"pt":{"name":"Síndrome de microdeleção 2p21 sem cistinúria"},"pl":{"name":"Zespół mikrodelecji 2p21 bez cystynurii","synonyms":["Del(2)(p21) bez cystynurii"],"definition":"*Zespół mikrodelecji 2p21 bez cystynurii jest rzadką częściową monosomią autosomalną, która charakteryzuje się słabymi ruchami płodu, ciężką hipotonią w okresie niemowlęcym i trudnościami w karmieniu, które z czasem samoistnie ustępują, nieprawidłowościami układu moczowo-płciowego (spodziectwo albo hipoplastyczne wargi sromowe większe), całościowym opóźnieniem rozwoju, łagodną niepełnosprawnością intelektualną i dysmorfią twarzy (dolichocefalia, wydatne czoło, obustronne opadanie powiek, cofnięcie środkowej części twarzy, otwarte usta z namiotowatym kształtem czerwieni wargi górnej). U chorych stwierdza się podwyższone stężenie mleczanów w surowicy, ale nie występuje u nich cystynuria."},"cs":{"name":"Mikrodeleční syndrom 2p21 bez cystinurie","synonyms":["Del(2)(p21) bez cystinurie"]},"uk":{"name":"Синдром мікроделеції 2р21 без цистинурії","synonyms":["Del(2)(p21) без цистинурії"],"definition":"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria."},"zh":{"name":"2p21微缺失综合征不伴胱氨酸尿","synonyms":["2p21缺失不伴胱氨酸尿"],"definition":"2p21微缺失综合征不伴胱氨酸尿症是一种少见的常染色体部分缺失综合征，临床表现为胎动乏力、婴幼儿严重肌张力低下和可随时间改善的喂养困难，泌尿生殖系统异常(尿道下裂或大阴唇发育不良)、全面发育迟缓、轻度智力残疾和面部畸形(多头畸形、额头隆起、双侧上睑下垂、面中部后缩、张口上唇红晕)。受影响的患者血清乳酸水平略有升高，但不出现胱氨酸尿症。"},"tr":{"name":"Sistinüri olmayan 2p21 mikrodelesyon sendromu","synonyms":["Del (2) (p21) sistinüri ile seyretmeyen"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018245","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749458","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":369886,"name":"Homozygous 2p21 microdeletion syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"CAMKMT","name":"calmodulin-lysine N-methyltransferase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23794250[PMID]","hgnc":"26276","ensembl":"ENSG00000143919","omim":"609559","loci":["2p21"]},{"symbol":"PREPL","name":"prolyl endopeptidase like","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23794250[PMID]","hgnc":"30228","ensembl":"ENSG00000138078","omim":"609557","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23794250[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}