{"orpha":1600,"name":"Monosomy 18q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["18q deletion syndrome","18q- syndrome","De Grouchy syndrome type 2","Deletion 18q"],"definition":"A partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1600/","orphanet_url":"https://www.orpha.net/en/disease/detail/1600","names":{"fr":{"name":"Syndrome de monosomie 18q","synonyms":["Délétion 18q","Syndrome 18q-","Syndrome de délétion 18p de Grouchy type 2"],"definition":"Délétion partielle du bras long du chromosome 18 caractérisée par un phénotype très variable, comprenant le plus souvent une hypotonie, un retard de développement, une petite taille, un déficit en hormone de croissance, une perte auditive et des anomalies de l'oreille externe, une déficience intellectuelle, des malformations du palais, une dysmorphie faciale, des anomalies squelettiques (déformations des pieds, doigts effilés, scoliose) et des troubles de l'humeur."},"de":{"name":"Monosomie 18q","synonyms":["18q-Deletionssyndrom","18q-minus-Syndrom","De Grouchy-Syndrom Typ 2","Deletion 18q"],"definition":"Eine seltene Chromsosomenstörung, die durch eine partielle Deletion des langen Arms von Chromosom 18 gekennzeichnet ist. Sie manifestiert sich mit einem sehr variablen Phänotyp, der häufig Hypotonie, Entwicklungsverzögerung, Kleinwuchs, Wachstumshormonmangel, Schwerhörigkeit und Außenohranomalien, Intelligenzminderung, Gaumenfehler, Gesichtsdysmorphien, Skelettanomalien (Fußdeformitäten, spitze Finger, Skoliose) und Stimmungsstörungen umfasst."},"es":{"name":"Síndrome de monosomía 18q","synonyms":["Deleción 18q","Síndrome 18q-","Síndrome de De Grouchy tipo 2","Síndrome de deleción 18q"],"definition":"La monosomía 18q, es una deleción parcial del brazo largo del cromosoma 18 caracterizada por un fenotipo altamente variable que, por lo general, incluye hipotonía, retraso del desarrollo, talla baja, deficiencia de la hormona del crecimiento, pérdida auditiva y anomalías del oído externo, discapacidad intelectual, defectos del paladar, rasgos faciales dismórficos, anomalías esqueléticas (malformaciones del pie, dedos afilados, escoliosis) y alteraciones del estado de ánimo."},"it":{"name":"Sindrome monosomia 18q","synonyms":["Delezione 18q","Sindrome 18q-","Sindrome delezione 18q","Sindrome di De Grouchy tipo 2"],"definition":"La monosomia 18q è una delezione parziale del braccio lungo del cromosoma 18. Il quadro clinico è variabile e di solito comprende l'ipotonia, il ritardo dello sviluppo, la bassa statura, il deficit dell'ormone della crescita, la sordità e le anomalie dell'orecchio esterno, la disabilità intellettiva, i difetti del palato, i dismorfismi facciali, le anomalie scheletriche (deformità dei piedi, dita delle mani affusolate, scoliosi) e i disturbi dell'umore."},"nl":{"name":"Monosomie 18q-syndroom","synonyms":["18q- syndroom","18q-deletiesyndroom","Deletie 18q","Syndroom van De Grouchy type 2"],"definition":"Monosomie 18q is een partiële deletie van de lange arm van chromosoom 18, en wordt gekarakteriseerd door een zeer variabel fenotype, met doorgaans hypotonie, ontwikkelingsachterstand, kleine gestalte, groeihormoondeficiëntie, gehoorverlies en anomalieën van het buitenoor, intellectuele achterstand, palatale defecten, dysmorfe gelaatskenmerken, skeletanomalieën (voetmisvormingen, spitse vingers, scoliose) en gemoedsstoornissen."},"pt":{"name":"Monossomia 18q","synonyms":["Deleção 18q","Síndrome 18q-","Síndrome De Grouchy tipo 2","Síndrome de delecção 18q"]},"pl":{"name":"Zespół monosomii 18q","synonyms":["Delecja 18q","Zespół 18q"],"definition":"*Monosomia 18q to częściowa delecja długiego ramienia chromosomu 18, która charakteryzuje się bardzo zmiennym fenotypem i najczęściej obejmuje obniżenie napięcia mięśniowego, opóźnienie rozwoju, niski wzrost, niedobór hormonu wzrostu, niedosłuch i wady ucha zewnętrznego, niepełnosprawność intelektualną, wady podniebienia, dysmorfię twarzy, wady szkieletowe (deformacje stóp, zwężające się palce, skolioza) oraz zaburzenia nastroju."},"cs":{"name":"Monozomie 18q","synonyms":["18q- syndrom","Delece 18q"]},"uk":{"name":"Моносомія 18q","synonyms":["Синдром делеції 18q","18q-синдром","Синдром де Груші, тип 2","Делеція 18q"],"definition":"A partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders."},"zh":{"name":"18号染色体长臂单体","synonyms":["18q缺失综合征"]},"tr":{"name":"Monozomi 18q","synonyms":["Delesyon 18q","18q- sendromu","18q delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"601808","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011147","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536580","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432443","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10865","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":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":262146,"name":"Partial deletion of the long arm of chromosome 18 syndrome","classifications":[147,156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Not yet validated","source":"21977138[PMID]_1614460[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-24","source":"23707655[PMID]_5507053[PMID]_8488839[PMID]_16100728[PMID]_7358761[PMID]_26552569[PMID]_11134092[PMID]_6620023[PMID]_11177369[PMID]_15671099[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001018","label":"Abnormal palmar dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008513","label":"Bilateral conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007204","label":"Diffuse white matter abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","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:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005148","label":"Pulmonary valve defects","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008240","label":"Secondary growth hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005134","label":"Absence of the pulmonary valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000452","label":"Choanal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005164","label":"Dysplastic pulmonary valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011596","label":"Left aortic arch with right descending aorta and right ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001684","label":"Secundum atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003413","label":"Atlantoaxial abnormality","frequency":"Very rare (<4-1%)","criteria":null}]}}