{"orpha":1581,"name":"Non-distal deletion 10q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Non-distal monosomy 10q","Non-telomeric monosomy 10q"],"definition":"Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1581/","orphanet_url":"https://www.orpha.net/en/disease/detail/1581","names":{"fr":{"name":"Syndrome de délétion non distale 10q","synonyms":["Délétion non télomérique 10q","Monosomie non distale 10q","Monosomie non télomérique 10q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la délétion partielle du bras long du chromosome 10. Le phénotype est très variable, et se caractérise principalement par des retards de développement (habituellement du langage et de la parole), une atteinte cognitive variable et des anomalies neurocomportementales, telles que des troubles du spectre autistique et un trouble de déficit de l'attention. Une macrocéphalie et une légère dysmorphie faciale peuvent être associées. Le syndrome peut partager des similarités cliniques avec d'autres, comme le syndrome de Cowden, le syndrome de Bannayan-Riley-Ruvalcaba et le syndrome de polypose juvénile."},"de":{"name":"Nicht-distale Deletion 10q","synonyms":["Deletion 10q, nicht-distale","Nicht-distale Monosomie 10q","Nicht-telomere Monosomie 10q"]},"es":{"name":"Síndrome de deleción intersticial 10q","synonyms":["Monosomía intersticial 10q","Monosomía no terminal 10q"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente, que resulta de una deleción parcial del brazo largo del cromosoma 10. Se asocia a un fenotipo muy variable caracterizado principalmente por retrasos en el desarrollo (generalmente del lenguaje y del habla), deterioro cognitivo variable y anomalías neuroconductuales, tales como trastornos del espectro autista y trastorno por déficit de atención. También pueden asociarse macrocefalia y características dismórficas leves. Se ha descrito el solapamiento con otros síndromes, tales como el síndrome de Cowden y el síndrome de Bannayan-Riley-Ruvalcaba, así como con el síndrome de poliposis juvenil."},"it":{"name":"Sindrome delezione 10q non distale","synonyms":["Monosomia 10q non distale","Monosomia 10q non telomerica"],"definition":"La monosomia 10q non distale è un'anomalia cromosomica rara, causata dalla delezione parziale del braccio lungo del cromosoma 10. Il quadro clinico è molto variabile, ed è caratterizzato prevalentemente da ritardo dello sviluppo (di solito del linguaggio), deficit cognitivo di grado variabile e anomalie neuro-comportamentali, come i disturbi dello spettro autistico e il deficit di attenzione. Possono associarsi macrocefalia e dismorfismi sfumati. La malattia può presentare caratteristiche sovrapponibili ad altre sindromi, come la sindrome di Cowden, di Bannayan-Riley-Ruvalcaba e la poliposi giovanile."},"nl":{"name":"Niet-distale deletie 10q-syndroom","synonyms":["Niet-distale monosomie 10q","Niet-telomerische monosomie 10q"],"definition":"Niet-distale monosomie 10q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de lange arm van chromosoom 10, en vertoont een zeer variabel fenotype dat voornamelijk gekenmerkt wordt door ontwikkelingsachterstand (meestal van taal en spraak), variabele cognitieve beperkingen en neurologische gedragsstoornissen zoals autismespectrumstoornissen en aandachtstekortstoornis. Macrocefalie en milde dysmorfe kenmerken kunnen geassocieerd zijn. Overlap met andere syndromen, zoals syndroom van Cowden, syndroom van Bannayan-Riley-Ruvalcaba en juveniel polyposissyndroom, werd reeds gerapporteerd."},"pt":{"name":"Deleção não-distal 10q","synonyms":["Deleção não-distal 10q","Monossomia não-distal 10q","Monossomia não-telomérica 10q"]},"pl":{"name":"Zespół delecji nietelomerowej 10q","synonyms":["Interstycjalna delecja 10q","Nietelomerowa monosomia 10q","Nietelomerowa delecja 10q"],"definition":"*Nietelomerowa monosomia 10q jest rzadką aberracją chromosomową, która spowodowana jest częściową delecją długiego ramienia chromosomu 10. Charakteryzuje się wysoce zmiennym fenotypem, głównie z opóźnieniem rozwoju (zwykle dotyczącym języka i mowy), zmiennymi zaburzeniami poznawczymi i neuro-behawioralnymi, w tym ze spektrum autyzmu i z deficytem uwagi. Może towarzyszyć wielkogłowie (makrocefalia) i łagodne cechy dysmorfii. Zgłaszano przypadki nakładania z innymi zespołami, w tym z zespołem Cowdena, Bannayana, Riley’a i Ruvalcaby oraz zespołem polipowatości młodzieńczej."},"cs":{"name":"Non-distální monozomie 10q","synonyms":["Non-distální delece 10q","Non-telomerická monozomie 10q"]},"uk":{"name":"Недистальна делеція 10q","synonyms":["Недистальна моносомія 10q","Нетеломерна моносомія 10q"],"definition":"Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported."},"zh":{"name":"10号染色体长臂非远端单体","synonyms":["10号染色体长臂非末端着丝粒单体"]},"tr":{"name":"Distal olmayan monozomi 10q","synonyms":["Distal olmayan delesyon 10q","Telomerik olmayan monozomi 10q"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.A0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"754719298"},{"source":"MONDO","code":"0015546","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749375","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262083,"name":"Partial deletion of the long arm of chromosome 10 syndrome","classifications":[147,156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Not yet documented","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:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}