{"orpha":1580,"name":"Distal deletion 10p syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Distal monosomy 10p","Monosomy 10pter","Telomeric deletion 10p"],"definition":"Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1580/","orphanet_url":"https://www.orpha.net/en/disease/detail/1580","names":{"fr":{"name":"Syndrome de délétion distale 10p","synonyms":["Délétion 10pter","Délétion télomérique 10p","Monosomie 10pter","Monosomie distale 10p"],"definition":"La monosomie distale 10p est une anomalie chromosomique rare due à la perte de l'extrémité distale du bras court du chromosome 10. Le phénotype qui en résulte dépend de la taille de la délétion allant de 10p15 (la plus petite délétion), 10p14, à 10p13 (la plus grande)."},"de":{"name":"Distale Deletion 10p","synonyms":["Distale Monosomie 10p","Monosomie 10pter","Telomere Deletion 10p"],"definition":"Die distale Monosomie 10p ist eine seltene chromosomale Krankheit, bei der die Deletion des Endes des kurzen Armes (p-Arm) von Chromosom 10 abhängig vom Ausmaß der Deletion zu unterschiedlichen Phänotypen führt. Die Deletion betrifft entweder nur das terminale Band 10p15 oder erstreckt sich in Richtung des Zentromers bis zu den Banden 10p14 oder 10p13."},"es":{"name":"Síndrome de deleción terminal 10p","synonyms":["Monosomía 10pter","Monosomía terminal 10p"],"definition":"La monosomía distal 10p es un raro trastorno cromosómico en el cual la punta del brazo corto (brazo p) del cromosoma 10 está delecionado dando como resultado un fenotipo variable dependiendo del tamaño de la deleción. La deleción puede implicar sólo la banda terminal 10p15, o extenderse desde el centrómero hasta las bandas 10p14 o 10p13."},"it":{"name":"Sindrome delezione 10p distale","synonyms":["Delezione 10p telomerica","Monosomia 10p distale","Monosomia 10pter"]},"nl":{"name":"Distale deletie 10p-syndroom","synonyms":["Distale monosomie 10p","Monosomie 10pter","Telomerische deletie 10p"],"definition":"Distale monosomie 10p is een zeldzame chromosomale aandoening waarbij het uiteinde van de korte arm (p-arm) van chromosoom 10 gedeleteerd is, wat resulteert in een variabel fenotype afhankelijk van de omvang van de deletie. De deletie kan enkel de terminale band 10p15 omvatten, of zich uitstrekken richting centromeer tot band 10p14 of 10p13."},"pt":{"name":"Síndrome de deleção distal 10p","synonyms":["Deleção telomérica 10p","Monossomia 10pter","Monossomia distal 10p"],"definition":"A monossomia distal 10p é uma doença cromossómica rara em que a ponta do braço curto (braço p) do cromossoma 10 é eliminada, resultando num fenótipo variável dependendo do tamanho da deleção. A deleção pode envolver apenas a banda terminal 10p15 ou estender-se em direção ao centrómero até às bandas 10p14 ou 10p13."},"pl":{"name":"Zespół delecji dystalnej 10p","synonyms":["Dystalna delecja 10p","Monosomia 10pter","Telomerowa delecja 10p"]},"cs":{"name":"Distální monozomie 10p","synonyms":["Distální 10p delece","Monozomie 10pter","Telomerická delece 10p"]},"uk":{"name":"Дистальна делеція 10p","synonyms":["Дистальна моносомія 10p","Моносомія 10pter","Теломерна делеція 10p"],"definition":"Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13."},"zh":{"name":"10号染色体短臂远端单体","synonyms":["10号染色体长臂末端着丝粒缺失"]},"tr":{"name":"Distal monozomi 10p","synonyms":["Monozomi 10pter","Distal 10p delesyonu","Telomerik delesyon 10p"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.A1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1577009493"},{"source":"MONDO","code":"0011055","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11055","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304502","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1323","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261938,"name":"Partial deletion of the short arm of chromosome 10 syndrome","classifications":[147,156]}],"children":[{"orpha":687695,"name":"10p13-p14 deletion syndrome","type":"Malformation syndrome"},{"orpha":687424,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","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:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}