{"orpha":1620,"name":"Distal deletion 3p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["3p deletion syndrome","3p- syndrome","Distal monosomy 3p","Monosomy 3pter","Telomeric monosomy 3p"],"definition":"Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1620/","orphanet_url":"https://www.orpha.net/en/disease/detail/1620","names":{"fr":{"name":"Syndrome de délétion distale 3p","synonyms":["Délétion 3pter","Délétion télomérique 3p","Monosomie 3pter","Monosomie distale 3p","Syndrome 3p-"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la délétion partielle du bras court du chromosome 3. Le phénotype est très variable et se caractérise habituellement par un retard de croissance pré- et post-natale, un déficit intellectuel, un retard de développement et une dysmorphie craniofaciale (microcéphalie, trigonocéphalie, fentes palpébrales obliques en bas et en dehors, télécanthus, ptosis, micrognathie). Peuvent aussi être associés une polydactylie post-axiale, une hypotonie, des anomalies rénales et des anomalies cardiaques congénitales (par ex. communication atrioventriculaire)."},"de":{"name":"Distale Deletion 3p","synonyms":["3p-minus-Syndrom","Distale Monosomie 3p","Monosomie 3pter","Telomere Monosomie 3p"],"definition":"Die distale Monosomie 3p ist eine seltene Chromosomenanomalie, die aus einer partiellen Deletion des kurzen Arms von Chromosom 3 resultiert und sich mit einem sehr variablen Phänotyp präsentiert. Typische Merkmale sind prä- und postnatale Wachstumsretardierung, Intelligenzminderung, Entwicklungsverzögerung und kraniofazialen Dysmorphismus (Mikrozephalie, Trigonozephalie, nach unten geneigte Lidspalten, Telecanthus, Ptosis, Mikrognathie). Auch postaxiale Polydaktylie, Hypotonie, Nierenanomalien und angeborene Herzfehler (z. B. atrioventrikulärer Septumdefekt) können assoziiert sein."},"es":{"name":"Síndrome de deleción terminal 3p","synonyms":["Monosomía 3pter","Monosomía terminal 3p","Síndrome 3p-","Síndrome de deleción 3p-"],"definition":"La monosomía distal 3p es una anomalía cromosómica poco frecuente, resultante de una deleción parcial del brazo corto del cromosoma 3. Presenta un fenotipo muy variable caracterizado por retraso del crecimiento pre- y post natal, discapacidad intelectual, retraso del desarrollo y dismorfia craneofacial (microcefalia , trigonocefalia, fisuras palpebrales inclinadas hacia abajo, telecanto, ptosis, micrognatia). Puede asociar polidactilia postaxial, hipotonía, anomalías renales y defectos cardíacos congénitos (por ejemplo, defecto septal atrioventricular)."},"it":{"name":"Sindrome delezione 3p distale","synonyms":["Monosomia 3p distale","Monosomia 3p telomerica","Monosomia 3pter","Sindrome 3p-","Sindrome delezione 3p"],"definition":"La monosomia 3p distale è un'anomalia cromosomica rara, causata dalla delezione parziale del braccio corto del cromosoma 3. Il quadro clinico è molto variabile, di solito con ritardo della crescita pre- e post-natale, disabilità intellettiva, ritardo dello sviluppo e dismorfismi craniofacciali (microcefalia, trigonocefalia, rime palpebrali oblique verso il basso, telecanto, ptosi e micrognazia). Possono associarsi la polidattilia postassiale, l'ipotonia, le anomalie renali e le cardiopatie congenite (difetto del setto atrio-ventricolare)."},"nl":{"name":"Distale deletie 3p-syndroom","synonyms":["Telomerische monosomie 3p","3p-deletiesyndroom","3p-syndroom","Distale monosomie 3p","Monosomie 3pter"],"definition":"Distale monosomie 3p is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de korte arm van chromosoom 3, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door pre- en postnatale groeiretardatie, intellectuele achterstand, ontwikkelingsachterstand en craniofaciale dysmorfie (microcefalie, trigonocefalie, neerwaartse ooglidspleten, telecanthus, ptose, micrognathie). Post-axiale polydactylie, hypotonie, nieranomalieën en congenitale hartdefecten (e.g. atrioventriculair septumdefect) kunnen geassocieerd zijn."},"pt":{"name":"Deleção distal 3p","synonyms":["Monossomia 3pter","Monossomia distal 3p","Monossomia telomérica 3p"]},"pl":{"name":"Zespół delecji dystalnej 3p","synonyms":["3p- syndrome","Dystalna delecja 3p","Monosomia 3pter","Telomerowa monosomia 3p"]},"cs":{"name":"Distální monozomie 3p","synonyms":["3p- syndrom","Distální 3p delece","Monozomie 3pter","Telomerická monozomie 3p"]},"uk":{"name":"Дистальна делеція 3p","synonyms":["Синдром делеції 3p","3p-синдром","Дистальна моносомія 3p","Моносомія 3pter","Теломерична моносомія 3p"],"definition":"Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated."},"zh":{"name":"3号染色体短臂远端单体","synonyms":["3号染色体短臂末端着丝粒单体"]},"tr":{"name":"Distal monozomi 3p","synonyms":["3p- sendromu","Monozomi 3pter","Distal 3p delesyonu","Telomerik monozomi 3p"]}},"xrefs":[{"source":"OMIM","code":"613792","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013424","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706503","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3750","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":293642,"name":"Blepharophimosis-intellectual disability syndrome","classifications":[147,156,181,189]},{"orpha":261875,"name":"Partial deletion of the short arm of chromosome 3 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"BRPF1","name":"bromodomain and PHD finger containing 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28881385[PMID]","hgnc":"14255","ensembl":"ENSG00000156983","omim":"602410","loci":["3p25.3"]},{"symbol":"SETD5","name":"SET domain containing 5","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25138099[PMID]","hgnc":"25566","ensembl":"ENSG00000168137","omim":"615743","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"ISBN-10:0781730635[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN-10:0781730635[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007670","label":"Abnormal vestibulo-ocular reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}