{"orpha":412035,"name":"13q12.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(13)(q12.3)","Monosomy 13q12.3"],"definition":"13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-412035/","orphanet_url":"https://www.orpha.net/en/disease/detail/412035","names":{"fr":{"name":"Syndrome de microdélétion 13q12.3","synonyms":["Del(13)(q12.3)","Monosomie 13q12.3"],"definition":"Anomalie chromosomique rare caractérisée par une déficience intellectuelle modérée, un retard de langage, une microcéphalie post-natale, un eczéma ou une dermatite atopique, des traits faciaux caractéristiques (aplatissement malaire, nez proéminent, ailes du nez sous-développées, philtrum lisse et vermillon fin de la lèvre supérieure), ainsi que par une sensibilité réduite à la douleur."},"de":{"name":"Mikrodeletionssyndrom 13q12.3","synonyms":["Del(13)(q12.3)","Monosomie 13q12.3"]},"es":{"name":"Síndrome de microdeleción 13q12.3","synonyms":["Del(13)(q12.3)","Monosomía 13q12.3"],"definition":"El síndrome de microdeleción 13q12.3, es una anomalía cromosómica poco frecuente caracterizada por discapacidad intelectual moderada, retraso del habla, microcefalia postnatal, eccema o dermatitis atópica, rasgos faciales característicos (aplanamiento malar, nariz prominente, aletas nasales infradesarrolladas, surco nasolabial (filtrum) poco marcado y labio superior delgado), así como sensibilidad al dolor reducida."},"it":{"name":"Sindrome da microdelezione 13q12.3","synonyms":["Del(13)(q12.3)","Monosomia 13q12.3"],"definition":"La sindrome da microdelezione 13q12.3 è un'anomalia cromosomica rara caratterizzata da disabilità intellettiva moderata, ritardo del linguaggio, microcefalia postnatale, eczema o dermatite atopica, dismorfismi facciali caratteristici (appiattimento della regione malare, naso prominente, iposviluppo delle ali del naso, filtro liscio, assottigliamento della porzione mucosa del labbro superiore) e ridotta sensibilità al dolore."},"nl":{"name":"13q12.3-microdeletiesyndroom","synonyms":["Del(13)(q12.3)","Monosomie 13q12.3"],"definition":"13q12.3 microdeletiesyndroom is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door matige intellectuele achterstand, spraakachterstand, postnatale microcefalie, eczeem of atopische dermatitis, typische gelaatskenmerken (platte jukbeenderen, prominente neus, onderontwikkelde neusvleugels, glad filtrum, en dun vermiljoen van de bovenlip), en verminderde gevoeligheid voor pijn."},"pt":{"name":"Síndrome de microdeleção 13q12.3"},"pl":{"name":"Zespół mikrodelecji 13q12.3","synonyms":["Del(13)(q12.3)","Monosomia 13q12.3"],"definition":"*Zespół mikrodelecji 13q12.3 jest rzadką aberracją chromosomową, która charakteryzuje się umiarkowaną niepełnosprawnością intelektualną, opóźnieniem mowy, małogłowiem pojawiającym się po urodzeniu, wypryskiem lub atopowym zapaleniem skóry, charakterystycznymi rysami twarzy (spłaszczenie okolic kości jarzmowych, wydatny nos, niedorozwinięte skrzydełka nosa, gładka rynienka podnosowa i cienka czerwień wargi górnej) i zmniejszoną wrażliwością na ból."},"cs":{"name":"Mikrodeleční syndrom 13q12.3","synonyms":["Del(13)(q12.3)","Monozomie 13q12.3"]},"uk":{"name":"Синдром мікроделеції 13q12.3","synonyms":["Del(13)(q12.3)","Моносомія 13q12.3"],"definition":"13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain."},"zh":{"name":"13q12.3微缺失综合征","synonyms":["13q12.3单体"],"definition":"13q12.3微缺失综合症是一种罕见的染色体异常，其特征是中度智力障碍，语言障碍，生后小头畸形，湿疹或特应性皮炎，特征性的面部特征（颧骨扁平，鼻部突出，鼻翼发育异常，人中光滑，上唇薄），合并对疼痛的敏感性降低。"},"tr":{"name":"13q12.3 mikrodelesyon sendromu","synonyms":["Del(13)(q12.3)","Monozomi 13q12.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018474","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750951","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":262101,"name":"Partial deletion of the long arm of chromosome 13 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24664804[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24664804[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-02","source":"24664804[PMID]","terms":[{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","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:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010763","label":"Low insertion of columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012724","label":"Upper eyelid edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200053","label":"Hemihypotrophy of lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null}]}}