{"orpha":96148,"name":"Distal deletion 10q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Deletion 10qter","Distal monosomy 10q","Monosomy 10qter","Telomeric deletion 10q"],"definition":"Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96148/","orphanet_url":"https://www.orpha.net/en/disease/detail/96148","names":{"fr":{"name":"Syndrome de délétion distale 10q","synonyms":["Délétion 10qter","Délétion télomérique 10q","Monosomie 10qter","Monosomie distale 10q","Monosomie télomérique 10q"],"definition":"La monosomie distale 10q est une anomalie chromosomique résultant d'une délétion terminale sur le bras long du chromosome 10 et caractérisée par une dysmorphie faciale, un retard de croissance pré- et postnatale, des anomalies cardiaques et génitales et un retard du développement."},"de":{"name":"Distale Deletion 10q","synonyms":["Deletion 10q, distale","Deletion 10qter","Distale Monosomie 10q","Monosomie 10qter","Telomere Deletion 10q"]},"es":{"name":"Síndrome de deleción terminal 10q","synonyms":["Deleción 10qter","Monosomía 10qter","Monosomía terminal 10q"],"definition":"Es una anomalía cromosómica que consiste en la deleción terminal del brazo largo del cromosoma 10. Está caracterizada por dismorfia facial, retraso del crecimiento pre- y postnatal, anomalías cardiacas y genitales, y retraso del desarrollo."},"it":{"name":"Sidnrome delezione 10q distale","synonyms":["Delezione 10q telomerica","Delezione 10qter","Monosomia 10q distale","Monosomia 10qter"]},"nl":{"name":"Distale deletie 10q-syndroom","synonyms":["Deletie 10qter","Distale monosomie 10q","Monosomie 10qter","Telomerische deletie 10q"],"definition":"Distale monosomie 10q is een chromosomale anomalie bestaande uit terminale deletie van de lange arm van chromosoom 10, en wordt gekenmerkt door faciale dysmorfie, pre- en postnatale groeiretardatie, anomalieën van hart en genitaliën, en ontwikkelingsachterstand."},"pt":{"name":"Deleção distal 10q","synonyms":["Deleção 10qter","Deleção telomérica 10q","Monossomia 10qter","Monossomia distal 10q"],"definition":"A monossomia distal 10q é uma anomalia cromossómica envolvendo a deleção terminal do braço longo do cromossoma 10 e é caracterizada por dismorfismo facial, atraso de crescimento pré- e pós-natal, anomalias cardíacas e genitais, e atraso no desenvolvimento."},"pl":{"name":"Zespół delecji dystalnej 10q","synonyms":["Delecja dystalna 10q","Delecja telomerowa 10q","Monosomia 10qter"]},"cs":{"name":"Distální monozomie 10q","synonyms":["Distální delece 10q","Monozomie 10qter","Telomerická delece 10q"]},"uk":{"name":"Дистальна делеція 10q","synonyms":["Делеція 10qter","Дистальна моносомія 10q","Моносомія 10qter","Делеція теломерної ділянки 10q"],"definition":"Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay."},"zh":{"name":"10号染色体长臂远端单体","synonyms":["10号染色体长臂端粒缺失"],"definition":"10号染色体长臂远端单体是一种染色体异常，涉及10号染色体长臂末端缺失，其特征是面部畸形、出生前和出生后生长迟缓、心脏和生殖器异常以及发育迟缓。"},"tr":{"name":"Distal monozomi 10q","synonyms":["Monozomi 10qter","Distal delesyon 10q","Telomerik delesyon 10q"]}},"xrefs":[{"source":"OMIM","code":"609625","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.A0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"565144995"},{"source":"MONDO","code":"0012315","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305277","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3711","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]}],"children":[],"genes":[{"symbol":"EBF3","name":"EBF transcription factor 3","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"35340043[PMID]","hgnc":"19087","ensembl":"ENSG00000108001","omim":"607407","loci":["10q26.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2019-10-17","source":"28432728[PMID]_19558528[PMID]_19253379[PMID]_14598339[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","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:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005709","label":"2-3 toe cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002389","label":"Cavum septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007068","label":"Inferior vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008554","label":"Cochlear malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011376","label":"Morphological abnormality of the vestibule of the inner ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Very rare (<4-1%)","criteria":null}]}}