{"orpha":357001,"name":"19p13.13 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(19)(p13.13)","Monosomy 19p13.13"],"definition":"A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357001/","orphanet_url":"https://www.orpha.net/en/disease/detail/357001","names":{"fr":{"name":"Syndrome de microdélétion 19p13.13","synonyms":["Del(19)(p13.13)","Monosomie 19p13.13"],"definition":"Monosomie rare et partielle des autosomes caractérisée par un retard global de développement, une déficience intellectuelle modérée, une macrocéphalie, une croissance excessive, une hypotonie et une dysmorphie faciale (front proéminent, fentes palpébrales inclinées vers le bas). Les autres caractéristiques associées sont une ataxie, des crises convulsives, une ventriculomégalie, des malformations oculaires (strabisme, hypoplasie du nerf optique) et des problèmes gastro-intestinaux (douleurs abdominales, vomissements, constipation)."},"de":{"name":"Mikrodeletionssyndrom 19p13.13","synonyms":["Del(19)(p13.13)","Monosomie 19p13.13"]},"es":{"name":"Síndrome de microdeleción 19p13.13","synonyms":["Del(19)(p13.13)","Monosomía 19p13.13"],"definition":"Es una monosomía autosómica parcial poco frecuente, caracterizada por retraso global del desarrollo, discapacidad intelectual moderada, macrocefalia, sobrecrecimiento, hipotonía y dismorfia facial (frente prominente, fisuras palpebrales inclinadas hacia abajo). Otros hallazgos variables asociados son pueden incluir ataxia, crisis, ventriculomegalia, anomalías oculares (estrabismo, hipoplasia del nervio óptico) y problemas gastrointestinales (dolor abdominal, vómitos, estreñimiento)."},"it":{"name":"Sindrome da microdelezione 19p13.13","synonyms":["Del(19)(p13.13)","Monosomia 19p13.13"],"definition":"La sindrome da microdelezione 19p13.13 è una monosomia autosomica parziale rara, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva moderata, macrocefalia, iperaccrescimento, ipotonia e dismorfismi facciali (fronte bombata, rime palpebrali oblique verso il basso). Altri segni clinici variabili sono l'atassia, le crisi epilettiche, la ventricolomegalia, le anomalie oculari (strabismo, ipoplasia del nervo ottico) e i problemi gastrointestinali (dolore addominale, vomito, costipazione)."},"nl":{"name":"19p13.13-microdeletiesyndroom","synonyms":["Del(19)(p13.13)","Monosomie 19p13.13"],"definition":"Een zeldzame, partiële, autosomale monosomie, gekarakteriseerd door algehele ontwikkelingsachterstand, matige intellectuele achterstand, macrocefalie, overgroei, hypotonie, en faciale dysmorfie (boller voorhoofd, schuin naar beneden hellende ooglidspleten). Andere variabel geassocieerde kenmerken zijn onder meer ataxie, insulten, ventriculomegalie, ooganomalieën (strabisme, hypoplasie van oogzenuw) en gastro-intestinale problemen (abdominale pijn, braken, constipatie)."},"pt":{"name":"Síndrome de microdeleção 19p13.13"},"pl":{"name":"Zespół mikrodelecji 19p13.13","synonyms":["Del(19)(p13.13)","Monosomia 19p13.13"],"definition":"*Zespół mikrodelecji 19p13.13 jest rzadko występującą częściową monosomią autosomu, która charakteryzuje się całościowym opóźnieniem rozwoju, umiarkowaną niepełnosprawnością intelektualną, makrocefalią (wielkogłowiem), nadmiernym wzrostem, hipotonią i dysmorfią twarzy (wydatne czoło, skierowane skośnie ku dołowi szpary powiekowe). Inne, zmiennie występujące cechy obejmują ataksję, drgawki, poszerzenie komór mózgowych, nieprawidłowości narządu wzroku (zez, hipoplazja/niedorozwój nerwu wzrokowego) oraz problemy żołądkowo-jelitowe (bóle brzucha, wymioty, zaparcia)."},"cs":{"name":"Mikrodeleční syndrom 19p13.13","synonyms":["Del(19)(p13.13)","Monozomie 19p13.13"]},"uk":{"name":"Синдром мікроделеції 19p13.13","synonyms":["Del(19)(p13.13)","Моносомія 19p13.13"],"definition":"A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)."},"zh":{"name":"19p13.13微缺失综合征","synonyms":["19p13.13单体"],"definition":"本病是一种罕见的部分常染色体单体疾病，特征为全面发育迟缓、中度智力残疾、巨头畸形、过度生长、肌张力低下和面部畸形(额部隆起、睑裂下斜)。本病的其他相关特征包括共济失调、癫痫发作、脑室增大、眼部异常(斜视、视神经发育不良)和胃肠道问题(腹痛、呕吐、便秘)。"},"tr":{"name":"19p13.13 mikrodelesyon sendromu","synonyms":["Del(19)(p13.13)","Monozomi 19p13.13"]}},"xrefs":[{"source":"OMIM","code":"613638","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013336","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150894","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":261983,"name":"Partial deletion of the short arm of chromosome 19 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23495138[PMID]"},{"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":"2019-10-29","source":"26338046[PMID]_20613546[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012719","label":"Functional abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001869","label":"Deep plantar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","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:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007333","label":"Hypoplasia of the frontal lobes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","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:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}