{"orpha":1590,"name":"Distal deletion 13q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["13q32 deletion","Deletion 13q32","Distal monosomy 13q","Monosomy 13q32","Telomeric deletion 13q"],"definition":"Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1590/","orphanet_url":"https://www.orpha.net/en/disease/detail/1590","names":{"fr":{"name":"Syndrome de délétion distale 13q","synonyms":["Délétion 13q32","Délétion télomérique 13q","Monosomie 13q32","Monosomie distale 13q"],"definition":"Un syndrome d'anomalie chromosomique rare, causé par la délétion partielle du bras long du chromosome 13. Le phénotype est très variable, et se caractérise par un déficit intellectuel et un retard de développement de sévérité variable, ainsi que par des malformations du système nerveux central (holoprosencéphalie, anencéphalie, ventriculomégalie, malformation de Dandy-Walker), des anomalies oculaires (hypertélorisme, microphtalmie, strabisme, aniridie, dysplasie rétinienne) et une dysmorphie cranio-faciale (microcéphalie, trigonocéphalie, oreilles larges, malformées, pont nasal large et proéminent, micrognathie). Des manifestations cardiaques, génito-urinaires, gastro-intestinales et squelettiques ont aussi été rapportées."},"de":{"name":"Distale Deletion 13q","synonyms":["Distale Monosomie 13q","Monosomie 13q32","Telomere Deletion 13q"],"definition":"Die distale Monosomie 13q ist eine seltene Chromosomenanomalie, die aus einer partiellen Deletion des langen Arms von Chromosom 13 resultiert und sich mit einem sehr variablen Phänotyp präsentiert. Typischerweise manifestiert sich das Syndrom durch unterschiedliche Grade von Intelligenzminderung und Entwicklungsverzögerung sowie ZNS-Fehlbildungen (z.B.. Holoprosenzephalie, Anenzephalie, Ventrikulomegalie, Dandy-Walker-Malformation), Augenanomalien (z. B. Hypertelorismus, Mikrophthalmus, Strabismus, Aniridie, Netzhautdysplasie) und kraniofaziale Dysmorphien (Mikrozephalie, Trigonozephalie, große fehlgebildete Ohren, breiter prominenter Nasenrücken, Mikrognathie). Es wurden auch kardiale, genitourinäre, gastrointestinale und skelettale Manifestationen berichtet."},"es":{"name":"Síndrome de deleción terminal 13q","synonyms":["Deleción 13q32","Monosomía 13q32","Monosomía terminal 13q"],"definition":"La monosomía distal 13q es una anomalía cromosómica poco frecuente, resultante de una deleción parcial del brazo largo del cromosoma 13. Presenta un fenotipo muy variable caracterizado por diversos grados de discapacidad intelectual y retraso del desarrollo, así como malformaciones del SNC (por ejemplo, holoprosencefalia, anencefalia, ventriculomegalia, malformación de Dandy-Walker), anomalías oculares (p. ej., hipertelorismo, microftalmía, estrabismo, aniridia, displasia retiniana) y dismorfia craneofacial (microcefalia, trigonocefalia, orejas grandes y malformadas, puente nasal ancho y prominente, micrognatia). También se han notificado manifestaciones cardíacas, genitourinarias, gastrointestinales y esqueléticas."},"it":{"name":"Sindrome delezione 13q distale","synonyms":["Delezione 13q telomerica","Delezione 13q32","Monosomia 13q distale","Monosomia 13q32"],"definition":"La monosomia distale 13q è una sindrome rara da aberrazione cromosomica, causata dalla delezione parziale del braccio lungo del cromosoma 13; il quadro clinico è molto variabile; di solito è caratterizzato da disabilità intellettiva di grado variabile, ritardo dello sviluppo, malformazioni del SNC (oloprosencefalia, anencefalia, ventricolomegalia, malformazione di Dandy-Walker), anomalie oculari (ipertelorismo, microftalmia, strabismo, aniridia, displasia retinica) e dismorfismi craniofacciali (microcefalia, trigonocefalia, orecchie grandi e malformate, sella nasale ampia e prominente, micrognazia). Possono associarsi cardiopatie congenite e difetti gastrointestinali, dello scheletro e dell'apparato genito-urinario."},"nl":{"name":"Distale deletie 13q-syndroom","synonyms":["13q32-deletie","Deletie 13q32","Distale monosomie 13q","Monosomie 13q32","Telomerische deletie 13q"],"definition":"Distale monosomie 13q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de lange arm van chromosoom 13, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door variabele gradaties van intellectuele achterstand en ontwikkelingsachterstand, alsook malformaties van het CZS (e.g. holoprosencefalie, anencefalie, ventriculomegalie, malformatie van Dandy-Walker), oculaire afwijkingen (e.g. hypertelorisme, microftalmie, strabisme, aniridie, dysplasie van het netvlies) en craniofaciale dysmorfie (microcefalie, trigonocefalie, grote en misvormde oren, brede uitgesproken neusbrug, micrognathie). Cardiale, genito-urinaire, gastro-intestinale en skeletale manifestaties werden ook reeds gerapporteerd."},"pt":{"name":"Deleção distal 13q","synonyms":["Deleção 13q32","Deleção telomérica 13q","Monossomia 13q32","Monossomia distal 13q"]},"pl":{"name":"Zespół delecji dystalnej 13q","synonyms":["Delecja 13q32","Delecja 13q32","Dystalna delecja 13q","Monosomia 13q32","Telomerowa delecja 13q"]},"cs":{"name":"Distální monozomie 13q","synonyms":["13q32 delece","Delece 13q32","Distální 13q delece","Monozomie 13q32","Telomerická delece 13q"]},"uk":{"name":"Дистальна делеція 13q","synonyms":["Делеція 13q32","Делеція 13q32","Дистальна моносомія 13q","Моносомія 13q32","Делеція теломерної ділянки 13q"],"definition":"Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported."},"zh":{"name":"13号染色体长臂远端单体","synonyms":["13号染色体长臂末端着丝粒缺失"]},"tr":{"name":"Distal monozomi 13q","synonyms":["13q32 delesyon","Delesyon 13q32","Monozomi 13q32","Distal 13q delesyonu","Telomerik delesyon 13q"]}},"xrefs":[{"source":"OMIM","code":"602553","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":"1059598912"},{"source":"MONDO","code":"0011248","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706502","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":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"24433316[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24433316[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Occasional (29-5%)","criteria":null}]}}