{"orpha":75857,"name":"6q terminal deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75857/","orphanet_url":"https://www.orpha.net/en/disease/detail/75857","names":{"fr":{"name":"Syndrome de délétion 6q terminale","definition":"La délétion 6q terminale se caractérise par une dysmorphie faciale, un cou court, un retard psychomoteur, généralement associés à d'autres malformations non spécifiques."},"de":{"name":"Terminales 6q-Deletion-Syndrom","definition":"Eine seltene partielle Deletion des langen Arms von Chromosom 6, die mit einem variablen klinischen Phänotyp einhergeht, der charakteristische faziale Dysmorphien (einschließlich Mikrozephalie, breiter Nase mit ausgeprägter Nasenwurzel und knolliger Nasenspitze, großen Ohren, die fehlgebildet und tief angesetzt sein können, charakteristischem, nach unten gerichtetem Mund und kurzem Hals), globale Entwicklungsverzögerung, intellektuelle Beeinträchtigung und variable, unspezifische kongenitale Fehlbildungen umfasst. Muskuläre Hypotonie, Krampfanfälle, Netzhautanomalien und unterschiedliche Hirnanomalien wurden in Verbindung mit dieser Krankheit berichtet."},"es":{"name":"Síndrome de deleción terminal 6q","definition":"Es una deleción parcial poco frecuente del brazo largo del cromosoma 6 caracterizada por un fenotipo clínico variable que incluye una dismorfia craneofacial característica (microcefalia, nariz ancha con raíz nasal prominente y punta nasal bulbosa, orejas grandes que pueden estar malformadas y de implantación baja, boca característica de inclinación descendente y cuello corto), retraso global en el desarrollo, discapacidad intelectual y malformaciones congénitas variables e inespecíficas. Se ha descrito la asociación con hipotonía muscular, crisis epilépticas, anomalías de la retina y anomalías cerebrales variables."},"it":{"name":"Sindrome da delezione 6q terminale"},"nl":{"name":"Terminale 6q-deletiesyndroom","definition":"Een zeldzame partiële deletie van de lange arm van chromosoom 6, gekarakteriseerd door een variabel klinisch fenotype met onder meer kenmerkende craniofaciale dysmorfie (waaronder microcefalie, brede neus met prominente neuswortel en bolvormige neuspunt, grote oren die misvormd kunnen zijn, laagstaande, typisch naar beneden gekeerde mond, en korte hals), algehele ontwikkelingsachterstand, intellectuele achterstand, en variabele, aspecifieke congenitale malformaties. Er werd associatie van spierhypotonie, insulten, retinale anomalieën, en variabele hersenanomalieën gerapporteerd."},"pt":{"name":"Deleção terminal 6q"},"pl":{"name":"Zespół delecji terminalnej 6q"},"cs":{"name":"6q terminální deleční syndrom"},"uk":{"name":"Синдром термінальної делеції 6q","definition":"A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association."},"zh":{"name":"6号染色体长臂末端缺失综合征"},"tr":{"name":"6q terminal delesyon sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.60","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"434866040"},{"source":"MONDO","code":"0019164","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304514","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262047,"name":"Partial deletion of the long arm of chromosome 6 syndrome","classifications":[147,156]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"ERMARD","name":"ER membrane associated RNA degradation","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24056535[PMID]","hgnc":"21056","ensembl":"ENSG00000130023","omim":"615532","loci":["6q27"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"16329114[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":"2016-03-23","source":"24056535[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002538","label":"Abnormality of the cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030048","label":"Colpocephaly","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:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006712","label":"Aplasia/Hypoplasia of the ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001741","label":"Phimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001884","label":"Talipes calcaneovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}