{"orpha":96149,"name":"Distal deletion 12q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal monosomy 12q","Monosomy 12qter","Telomeric deletion 12q"],"definition":"A rare partial deletion of the long arm of chromosome 12 characterized by variable combinations of developmental delay, intellectual disability, behavioral abnormalities, variable dysmorphic facial features (including microcephalus, coarse face, synophrys, epicanthal folds, large bulbous nose, small ears, low-set and posteriorly rotated ears, or large tongue, among others), and other anomalies such as malformations of the hands and fingers/feet and toes, skin and nail abnormalities, and genitourinary and cardiac abnormalities, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96149/","orphanet_url":"https://www.orpha.net/en/disease/detail/96149","names":{"fr":{"name":"Syndrome de délétion distale 12q","synonyms":["Délétion 12qter","Délétion télomérique 12q","Monosomie 12qter","Monosomie distale 12q","Monosomie télomérique 12q"],"definition":"Délétion partielle rare du bras long du chromosome 12 caractérisée par une association inconstante de retard de développement, de déficience intellectuelle, de troubles comportementaux, de dysmorphie faciale variable (y compris microcéphalie, traits grossiers du visage, synophridie, épicanthus, nez bulbeux, petites oreilles d'implantation basse, orientées en arrière, ou grande langue) et d'autres anomalies telles que des malformations des mains et des doigts/des pieds et des orteils, des anomalies de la peau et des ongles, et des anomalies génito-urinaires et cardiaques, entre autres."},"de":{"name":"Distale Deletion 12q","synonyms":["Deletion 12q, distale","Distale Monosomie 12q","Monosomie 12qter","Telomere Deletion 12q"],"definition":"Eine seltene Chromosomenstörung mit partieller Deletion des langen Arms von Chromosom 12, die durch unterschiedliche Kombinationen von Entwicklungsverzögerung, Intelligenzminderung, Verhaltensanomalien und variablen Gesichtsdysmorphien (einschließlich Mikrozephalus, grobem Gesicht, Synophrys, Epikanthusfalten, große Knollennase, kleine Ohren, tief angesetzte und nach hinten gedrehte Ohren oder eine große Zunge) gekennzeichnet ist. Weitere u.a. beschriebene Anomalien sind Fehlbildungen der Hände und Finger/Füße und Zehen, Haut- und Nagelanomalien sowie Anomalien des Urogenitaltrakts und des Herzens."},"es":{"name":"Síndrome de deleción terminal 12q","synonyms":["Monosomía 12qter","Monosomía terminal 12q"],"definition":"Es una deleción parcial poco frecuente del brazo largo del cromosoma 12 caracterizada por combinaciones variables de retraso del desarrollo, discapacidad intelectual, anomalías de la conducta, rasgos faciales dismórficos variables (que incluyen microcefalia, cara tosca, sinofridia, pliegues epicánticos, nariz grande y bulbosa, pabellones auriculares pequeños, de implantación baja y rotados posteriormente, o macroglosia, entre otros), y otras anomalías como malformaciones de las manos y de los dedos de manos/pies, anomalías ungueales y cutáneas, anomalías genitourinarias y cardíacas, entre otras."},"it":{"name":"Sindrome delezione 12q distale","synonyms":["Monosomia 12q distale","Delezione 12q telomerica","Monosomia 12qter"]},"nl":{"name":"Distale deletie 12q-syndroom","synonyms":["Distale monosomie 12q","Monosomie 12qter","Telomerische deletie 12q"],"definition":"Een zeldzame partiële deletie van de lange arm van chromosoom 12, gekenmerkt door variabele combinaties van ontwikkelingsachterstand, intellectuele achterstand, gedragsafwijkingen, variabele dysmorfe gelaatskenmerken (waaronder microcefalie, ruwe gelaatstrekken, synophrys, epicanthusplooien, grote knolvormige neus, kleine oren, laagstaande en naar achteren gedraaide oren, of grote tong), en andere anomalieën zoals onder meer malformaties van handen en vingers/voeten en tenen, afwijkingen van huid en nagels, en urogenitale en cardiale afwijkingen."},"pt":{"name":"Deleção distal 12q","synonyms":["Deleção telomérica 12q","Monossomia 12qter","Monossomia distal 12q"],"definition":"Deleção parcial rara do braço longo do cromossoma 12, caracterizada por combinações variáveis de atraso no desenvolvimento, perturbação do desenvolvimento intelectual, alterações comportamentais, características faciais dismórficas variáveis (incluindo microcefalia, face grosseira, sinófris, pregas epicânticas, nariz grande e bulboso, pavilhões auriculares pequenos, pavilhões auriculares baixamente implantados e rodados posteriormente ou língua grande, entre outras) e outras anomalias como malformações das mãos, pés e dedos das mãos e dos pés, anomalias da pele e unhas e anomalias geniturinárias e cardíacas, entre outras."},"pl":{"name":"Zespół delecji dystalnej 12q","synonyms":["Delecja dystalna 12q","Delecja telomerowa 12q","Monosomia 12qter"]},"cs":{"name":"Distální monozomie 12q","synonyms":["Distální delece 12q","Monozomie 12qter","Telomerická delece 12q"]},"uk":{"name":"Дистальна делеція 12q","synonyms":["Дистальна моносомія 12q","Моносомія 12qter","Делеція теломерної ділянки 12q"],"definition":"A rare partial deletion of the long arm of chromosome 12 characterized by variable combinations of developmental delay, intellectual disability, behavioral abnormalities, variable dysmorphic facial features (including microcephalus, coarse face, synophrys, epicanthal folds, large bulbous nose, small ears, low-set and posteriorly rotated ears, or large tongue, among others), and other anomalies such as malformations of the hands and fingers/feet and toes, skin and nail abnormalities, and genitourinary and cardiac abnormalities, among others."},"zh":{"name":"12号染色体长臂远端单体","synonyms":["12号染色体长臂端粒缺失"]},"tr":{"name":"Distal monozomi 12q","synonyms":["Monozomi 12qter","Distal delesyon 12q","Telomerik delesyon 12q"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.C0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"575866315"},{"source":"MONDO","code":"0019897","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5438460","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261821,"name":"Partial deletion of the long arm of chromosome 12 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-04","source":"12121357[PMID]_12687666[PMID]_16200635[PMID]_21457577[PMID]_23613162[PMID]_25425063[PMID]","terms":[{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009437","label":"Aplasia/Hypoplasia of the middle phalanx of the 3rd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008513","label":"Bilateral conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005912","label":"Biliary atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006533","label":"Bronchodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005129","label":"Congenital hypertrophy of left ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007573","label":"Late onset atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004904","label":"Maturity-onset diabetes of the young","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009904","label":"Prominent ear helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011407","label":"Proportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","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:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012741","label":"Unilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Occasional (29-5%)","criteria":null}]}}