{"orpha":96125,"name":"Distal deletion 6p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["6p subtelomeric deletion syndrome","6p25 microdeletion syndrome","Distal deletion 6p25","Monosomy 6p25","Monosomy 6pter"],"definition":"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96125/","orphanet_url":"https://www.orpha.net/en/disease/detail/96125","names":{"fr":{"name":"Syndrome de délétion distale 6p","synonyms":["Délétion distale 6p25","Monosomie 6p25","Monosomie 6pter","Monosomie distale 6p","Syndrome de délétion subtélomérique 6p","Syndrome de microdélétion 6p25"],"definition":"La monosomie distale 6p est responsable d'un syndrome délétionnel clairement défini avec un tableau clinique reconnaissable comportant un déficit intellectuel, des anomalies oculaires, une surdité et une dysmorphie faciale."},"de":{"name":"Distale Deletion 6p","synonyms":["6p subtelomeres Deletionssyndrom","Deletion 6p, distale","Distale Deletion 6p25","Mikrodeletionssyndrom 6p25","Monosomie 6p25","Monosomie 6pter"],"definition":"Die distale Monosomie 6p ist verantwortlich für ein distinktes Chromosomen-Deletionssyndrom mit erkennbarem klinischem Bild. Symptome sind intellektuelles Defizit, Augenanomalien, Hörverlust und faziale Dysmorphien."},"es":{"name":"Síndrome de deleción terminal 6p","synonyms":["Deleción terminal 6p25","Monosomía 6p25","Monosomía 6pter","Síndrome de deleción subtelomérica 6p","Síndrome de microdeleción 6p25"],"definition":"La monosomía distal 6p es la responsable de un síndrome de deleción claramente definido con un cuadro clínico reconocible que asocia: déficit intelectual, anomalías oculares, hipoacusia y dismorfia facial."},"it":{"name":"Sindrome delezione 6p distale","synonyms":["Delezione 6p25 distale","Monosomia 6p25","Monosomia 6pter","Sindrome da delezione 6p subtelomerica","Sindrome da microdelezione 6p25"]},"nl":{"name":"Distale deletie 6p-syndroom","synonyms":["6p25-microdeletiesyndroom","Distale deletie 6p25","Monosomie 6p25","Monosomie 6pter","Subtelomerische 6p-deletiesyndroom"],"definition":"Distale monosomie 6p is verantwoordelijk voor een apart chromosoomdeletie-syndroom met een herkenbaar klinisch beeld bestaande uit onder meer intellectuele achterstand, ooganomalieën, gehoorverlies, en faciale dysmorfie."},"pt":{"name":"Deleção distal 6p","synonyms":["Deleção distal 6p25","Monossomia 6p25","Monossomia 6pter","Síndrome de deleção subtelomérica 6p","Síndrome de microdeleção 6p25"],"definition":"A monossomia 6p distal é responsável por um síndrome de deleção cromossómica distinta com um quadro clínico reconhecível, incluindo défice cognitivo, anomalias oculares, surdez, e dismorfismo facial."},"pl":{"name":"Zespół delecji dystalnej 6p","synonyms":["Delecja dystalna 6p","Monosomia 6p25","Zespół delecji subtelomerowej 6p","Zespół mikrodelecji 6p25","Delecja telomerowa 6p"]},"cs":{"name":"Distální monozomie 6p","synonyms":["Syndrom subtelomerické delece 6p","Distální delece 6p","Monozomie 6p25","Mikrodeleční syndrom 6p25"]},"uk":{"name":"Дистальна делеція 6p","synonyms":["Синдром субтеломерної делеції 6p","Синдром мікроделеції 6p25","Дистальна делеція 6p25","Моносомія 6p25","Моносомія 6pter"],"definition":"Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism."},"zh":{"name":"6号染色体短臂远端单体","synonyms":["6号染色体短臂亚端粒微缺失综合征"],"definition":"6号染色体短臂远端单体是一种独特的染色体缺失综合征，其临床表现包括智力缺陷、眼部异常、听力丧失和面部畸形。"},"tr":{"name":"Distal monozomi 6p","synonyms":["Monozomi 6p25","Distal delesyon 6p","6p25 mikrodelesyon sendromu","6p subtelomerik delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"612582","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1452973874"},{"source":"MONDO","code":"0012948","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":261902,"name":"Partial deletion of the short arm of chromosome 6 syndrome","classifications":[147,156]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"23686687[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"25817395[PMID]_15578619[PMID]","terms":[{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011483","label":"Anterior synechiae of the anterior chamber","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","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:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007676","label":"Hypoplasia of the iris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000627","label":"Posterior embryotoxon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009918","label":"Ectopia pupillae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null}]}}