{"orpha":1596,"name":"Distal deletion 15q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["15q26 deletion syndrome","Distal monosomy 15q","Monosomy 15q26","Telomeric 15q deletion syndrome"],"definition":"Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1596/","orphanet_url":"https://www.orpha.net/en/disease/detail/1596","names":{"fr":{"name":"Syndrome de délétion distale 15q","synonyms":["Monosomie 15q26","Monosomie distale 15q","Syndrome de délétion 15q26","Syndrome de délétion télomérique 15q"],"definition":"Syndrome d'anomalie chromosomique rare caractérisé par un retard de croissance pré- et post-natal, un retard de développement, une déficience intellectuelle de degré variable, des anomalies de la main et du pied (brachydactylie/clinodactylie, pied bot, hypoplasie des ongles, doigts en position proximale) et une légère dysmorphie craniofaciale (microcéphalie, visage triangulaire, large pont nasal, micrognathie). Un lymphoedème néonatal, des malformations cardiaques, une aplasia cutis congenita, une dilatation de la racine aortique et des troubles du spectre de l'autisme ont également été rapportés."},"de":{"name":"Distale Deletion 15q","synonyms":["15q26-Deletionssyndrom","Distale Monosomie 15q","Monosomie 15q26","Telomeres 15q-Deletionssyndrom"],"definition":"Die distale Monosomie 15q ist ein seltenes Chromosomenanomalie-Syndrom, das durch prä- und postnatale Wachstumsrestriktion, Entwicklungsverzögerung, unterschiedliche Grade von Intelligenzminderung, Hand- und Fußanomalien (z.B. Brachy-/Klinodaktylie, Klumpfüße, Nagelhypoplasie, proximal gestellte Finger/Zehen) und milden kraniofazialen Dysmorphien (inkl. Mikrozephalie, dreieckiges Gesicht, breite Nasenbrücke, Mikrognathie) gekennzeichnet ist. Neonatale Lymphödeme, Herzfehlbildungen, Aplasia cutis congenita, Aortenwurzeldilatation und Autismus-Spektrum-Störungen wurden ebenfalls berichtet."},"es":{"name":"Síndrome de deleción terminal 15q","synonyms":["Monosomía 15q26","Monosomía terminal 15q","Síndrome de deleción 15q26"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente caracterizado por restricción en el crecimiento pre- y postnatal, retraso en el desarrollo, grados variables de discapacidad intelectual, anomalías en manos y pies (p. ej., braqui / clinodactilia, talipes equinovarus, hipoplasia ungueal, dedos situados en posición proximal) y leve dismorfia craneofacial (incluyendo microcefalia, cara triangular, puente nasal ancho, micrognatia). También se ha descrito linfedema neonatal, malformaciones cardíacas, aplasia cutánea congénita ,dilatación de la raíz aórtica y trastorno del espectro autista."},"it":{"name":"Sindrome delezione 15q distale","synonyms":["Monosomia 15q distale","Monosomia 15q26","Sindrome delezione 15q telomerica","Sindrome delezione 15q26"],"definition":"La monosomia distale 15q è un'anomalia cromosomica rara, caratterizzata da ritardo della crescita pre- e post-natale, ritardo dello sviluppo, disabilità intellettiva di grado variabile, anomalie delle mani e dei piedi (brachi-clinodattilia, piedi equino-vari, ipoplasia delle unghie, dita ad impianto prossimale) e dismorfismi craniofacciali sfumati (microcefalia, viso triangolare, sella nasale ampia, micrognazia). Possono associarsi linfedema neonatale, cardiopatie, aplasia congenita della cute, dilatazione della radice dell'aorta e disturbo dello spettro autistico."},"nl":{"name":"Distale deletie 15q-syndroom","synonyms":["15q26-deletiesyndroom","Distale monosomie 15q","Monosomie 15q26","Telomerische 15q-deletiesyndroom"],"definition":"Distale monosomie 15q is een zeldzaam syndroom met een chromosomale anomalie, en wordt gekarakteriseerd door pre- en postnatale groeirestrictie, ontwikkelingsachterstand, variabele gradaties van intellectuele achterstand, hand- en voetanomalieën (e.g. brachy-/clinodactylie, talipes equinovarus, nagelhypoplasie, proximaal geplaatste vingers/tenen) en milde craniofaciale dysmorfie (inclusief microcefalie, driehoekig gelaat, brede neusbrug, micrognathie). Neonataal lymfoedeem, hartmalformaties, aplasia cutis congenita, dilatatie van de aortawortel, en autismespectrumstoornis werden ook reeds gerapporteerd."},"pt":{"name":"Deleção distal 15q","synonyms":["Monossomia 15q26","Síndrome de deleção 15q26","Síndrome de deleção telomérica 15q"]},"pl":{"name":"Zespół delecji dystalnej 15q","synonyms":["Delecja 15q26","Zespół delecji 15q26","Zespół dystalnej delecji 15q26","Zespół telomerowej delecji 15q26","Delecja telomerowa 15q"],"definition":"*Dystalna monosomia 15q jest rzadką aberracją chromosomową, która charakteryzuje się zahamowaniem wzrostu w okresie pre- i posnatalnym, opóźnieniem rozwoju, niepełnosprawnością intelektualną o różnym stopniu ciężkości, wadami dłoni i stóp (brachydaktylia, stopy końsko-szpotawe, hipoplazja paznokci) i łagodną dysmorfią twarzoczaszki (małogłowie, trójkątna twarz, szeroki grzbiet nosa, mikrognacja). Opisywano również limfatyczny obrzęk noworodkowy, wady serca, wrodzoną aplazję skóry, poszerzenie aorty wstępującej oraz zaburzenia ze spektrum autyzmu.inf brsup inf brsup"},"cs":{"name":"Distální monozomie 15q","synonyms":["Syndrom delece 15q26","Distální delece 15q syndrom","Monozomie 15q26","Telomerická delece 15q syndrom"]},"uk":{"name":"Дистальна делеція 15q","synonyms":["Синдром делеції 15q26","Дистальна моносомія 15q","Моносомія 15q26","Синдром делеції теломерної ділянки 15q"],"definition":"Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported."},"zh":{"name":"远端单倍体15q","synonyms":["末端着丝粒15q26缺失综合征"]},"tr":{"name":"Distal monozomi 15q","synonyms":["Monozomi 15q26","15q26 delesyon sendromu","Distal 15q delesyon sendromu","Telomerik 15q delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"612626","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.F","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1004760461"},{"source":"MONDO","code":"0012964","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707662","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"MCTP2","name":"multiple C2 and transmembrane domain containing 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23773997[PMID]","hgnc":"25636","ensembl":"ENSG00000140563","omim":"616297","loci":["15q26.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"22065603[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22065603[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-28","source":"17702015[PMID]_1849352[PMID]_20962017[PMID]_27192887[PMID]_16114049[PMID]_18512227[PMID]_23603061[PMID]","terms":[{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005709","label":"2-3 toe cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012303","label":"Abnormal aortic arch morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030918","label":"Low 1-minute APGAR score","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","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:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004471","label":"Aplasia cutis congenita over the scalp vertex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011651","label":"Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011560","label":"Mitral atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null}]}}