{"orpha":1587,"name":"Monosomy 13q14 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(13)(q14)","Deletion 13q14"],"definition":"Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1587/","orphanet_url":"https://www.orpha.net/en/disease/detail/1587","names":{"fr":{"name":"Syndrome de monosomie 13q14","synonyms":["Del(13)(q14)","Syndrome de déletion 13q14"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la délétion partielle du bras long du chromosome 13. Il se caractérise par un retard de développement, un déficit intellectuel de sévérité variable, un rétinoblastome et une dysmorphie faciale (incluant une microcéphalie/dolichocéphalie, un front haut et large, des sourcils proéminents, des lobes de l'oreille épais et antéversés, un nez court avec large un pont nasal et une pointe bulbeuse, un philtrum proéminent, une large bouche avec une lèvre supérieure fine et une lèvre inférieure épaisse et éversée). Les autres signes rapportés incluent un fort poids à la naissance, une macrocéphalie, un pinéalome, une hépatomégalie, une hernie inguinale et une cryptorchidie."},"de":{"name":"Monosomie 13q14","synonyms":["DEL13Q14","Del(13)(q14)","Deletion 13q14-Syndrom"]},"es":{"name":"Síndrome de monosomía 13q14","synonyms":["Del(13)(q14)","Deleción 13q14"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente resultante de una deleción parcial del brazo largo del cromosoma 13. Está caracterizado por retraso en el desarrollo, grados variables de discapacidad intelectual, retinoblastoma y dismorfia craneofacial (incluyendo micro / dolicocefalia, frente alta y ancha, cejas prominentes, lóbulos de las orejas gruesos y antevertidos, nariz corta con puente nasal ancho y punta bulbosa, surco nasolabial prominente, boca grande con labio superior delgado y labio inferior grueso y evertido). Otras características descritas incluyen elevado peso al nacer, macrocefalia, pinealoma, hepatomegalia, hernia inguinal y criptorquidia."},"it":{"name":"Sindrome monosomia 13q14","synonyms":["Del(13)(q14)","Delezione 13q14"],"definition":"La monosomia 13q14è un'anomalia cromosomica rara, causata dalla delezione parziale del braccio lungo del cromosoma 13. È caratterizzata da ritardo dello sviluppo, disabilità intellettiva di grado variabile, retinoblastoma e dismorfismi craniofacciali (micro/dolicocefalia, fronte alta e ampia, sopracciglia prominenti, lobi delle orecchie ispessiti e anteversi, naso corto con sella ampia e punta globosa, filtro prominente, bocca larga con labbro superiore sottile e labbro inferiore ispessito e anteverso). Altri segni clinici sono il peso elevato alla nascita, la macrocefalia, i pinealomi, l'epatomegalia, l'ernia inguinale e il criptorchidismo."},"nl":{"name":"Monosomie 13q14-syndroom","synonyms":["Del(13)(q14)","Deletie 13q14-syndroom"],"definition":"Monosomie 13q14 is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de lange arm van chromosoom 13, en wordt gekarakteriseerd door ontwikkelingsachterstand, variabele gradaties van intellectuele achterstand, retinoblastoom en craniofaciale dysmorfie (inclusief micro-/dolichocefalie, hoog en breed voorhoofd, opvallende wenkbrauwen, dikke oorlellen met anteversie, korte neus met een brede neusbrug en bolle neuspunt, uitgesproken filtrum, grote mond met dunne bovenlip en dikke, naar buiten gekeerde onderlip). Andere gerapporteerde kenmerken zijn onder meer een hoog geboortegewicht, macrocefalie, pinealoom, hepatomegalie, hernia inguinalis (liesbreuk) en cryptorchidie."},"pt":{"name":"Monossomia 13q14","synonyms":["Deleção 13q","Monossomia 13q"]},"pl":{"name":"Zespół monosomii 13q14","synonyms":["Del(13)(q14)","Zespół delecji 13q14"],"definition":"*Monosomia 13q14 jest rzadką aberracją chromosomową, polegającą na częściowej delecji długiego ramienia chromosomu 13. Charakteryzuje się opóźnieniem rozwoju, zmiennym stopniem niepełnosprawności intelektualnej i dysmorfią twarzoczaszki (małogłowie/długogłowie, wysokie i szerokie czoło, wyraźnie zaznaczone brwi, grube, odstające płatki uszne, krótki nos z szerokim grzbietem i bulwiastym czubkiem, wydatna rynienka, duże usta z cienką górną wargą i grubą, wywiniętą dolną wargą); może wystąpić siatkówczak. Opisywano także dużą masę urodzeniową, wielkogłowie, szyszyniak, powiększenie wątroby, przepuklinę pachwinową i wnętrostwo."},"cs":{"name":"Monozomie 13q14","synonyms":["Del(13)(q14)","Delece 13q14"]},"uk":{"name":"Моносомія 13q14","synonyms":["Del(13)(q14)","Делеція 13q14"],"definition":"Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism."},"zh":{"name":"单体13q14","synonyms":["13q14缺失"]},"tr":{"name":"Monozomi 13q14","synonyms":["Del(13)(q14)","Delesyon 13q14"]}},"xrefs":[{"source":"OMIM","code":"613884","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"459627137"},{"source":"MONDO","code":"0013481","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749304","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":262101,"name":"Partial deletion of the long arm of chromosome 13 syndrome","classifications":[147,156]},{"orpha":98574,"name":"Syndromic epicanthus","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"RB1","name":"RB transcriptional corepressor 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21505449[PMID]","hgnc":"9884","ensembl":"ENSG00000139687","omim":"614041","loci":["13q14.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009919","label":"Retinoblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}