{"orpha":1598,"name":"Monosomy 18p syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["18p- syndrome","De Grouchy syndrome type 1"],"definition":"A rare deletion of all or part of the short arm of chromosome 18 characterized by a highly variable phenotype, most commonly including global developmental delay, short stature, and dysmorphic facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1598/","orphanet_url":"https://www.orpha.net/en/disease/detail/1598","names":{"fr":{"name":"Syndrome de monosomie 18p","synonyms":["Syndrome 18p-","Syndrome de délétion 18p de Grouchy type 1"],"definition":"Délétion rare partielle ou totale du bras court du chromosome 18 caractérisée par un phénotype très variable, associant le plus souvent un retard global de développement, une petite taille et une dysmorphie faciale."},"de":{"name":"Monosomie 18p","synonyms":["18p-minus-Syndrom","De Grouchy-Syndrom Typ 1","Deletionssyndrom 18p-"],"definition":"Eine seltene Deletion des gesamten oder eines Teils des kurzen Arms von Chromosom 18, die durch einen stark variablen Phänotyp gekennzeichnet ist, der am häufigsten eine globale Entwicklungsverzögerung, Kleinwuchs und Gesichtsdysmorphien umfasst."},"es":{"name":"Síndrome de monosomía 18p","synonyms":["Síndrome 18p-","Síndrome de De Grouchy tipo 1"],"definition":"Es una deleción parcial o total del brazo corto del cromosoma 18, poco frecuente, caracterizada por un fenotipo muy variable, que suele incluir retraso global del desarrollo, talla baja y rasgos faciales dismórficos."},"it":{"name":"Monosomia 18p","synonyms":["Sindrome 18p-","Sindrome di De Grouchy tipo 1"],"definition":"La monosomia 18p è una patologia cromosomica, dovuta alla delezione di tutto o di parte del braccio corto del cromosoma 18."},"nl":{"name":"Monosomie 18p-syndroom","synonyms":["18p- syndroom","Syndroom van De Grouchy type 1"],"definition":"Een zeldzame deletie van de gehele of een deel van de korte arm van chromosoom 18, gekenmerkt door een zeer variabel fenotype, meestal met algehele ontwikkelingsachterstand, kleine gestalte, en dysmorfe gelaatskenmerken."},"pt":{"name":"Monossomia 18p","synonyms":["Síndrome 18p-","Síndrome De Grouchy tipo 1"]},"pl":{"name":"Zespół monosomii 18p","synonyms":["Zespół 18p","Zespół De Grouchy"],"definition":"Rzadka delecja całego lub części krótkiego ramienia chromosomu 18, charakteryzująca się bardzo zmiennym fenotypem, najczęściej obejmującym globalne opóźnienie rozwoju, niski wzrost i dysmorficzne rysy twarzy."},"cs":{"name":"Monozomie 18p","synonyms":["18p- syndrom","Syndrom De Grouchyho"]},"uk":{"name":"Моносомія 18p","synonyms":["18p-синдром","Синдром де Груші, тип 1"],"definition":"Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18."},"zh":{"name":"18号染色体短臂单体","synonyms":["De Grouchy综合征"]},"tr":{"name":"Monozomi 18p","synonyms":["18p- sendromu","De Grouchy sendromu"]}},"xrefs":[{"source":"OMIM","code":"146390","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"7800","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538309","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432442","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8631","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":261974,"name":"Partial deletion of the short arm of chromosome 18 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"18284672[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18284672[PMID]","terms":[{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","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:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","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:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null}]}}