{"orpha":444077,"name":"Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CHOPS syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444077/","orphanet_url":"https://www.orpha.net/en/disease/detail/444077","names":{"fr":{"name":"Syndrome de déficit cognitif-traits grossiers du visage-malformations cardiaques-obésité-atteinte pulmonaire-petite taille","synonyms":["Syndrome de CHOPS"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard global de développement, une déficience intellectuelle, une petite taille, des anomalies squelettiques (à savoir, brachydactylie et anomalies vertébrales), une obésité, des anomalies cardiaques, respiratoires et génito-urinaires, ainsi qu'une dysmorphie faciale (traits grossiers du visage, sourcils épais, synophridie, hypertélorisme, nez court et retroussé et philtrum long). Parmi les autres manifestations rapportées figurent la microcéphalie, la déficience auditive, la cataracte et le reflux gastro-oesophagien."},"de":{"name":"Kognitive Störung-grobe Gesichtsszüge-Herzdefekte-Adipositas-Lungenbeteiligung-Kleinwuchs-Skelettdysplasie-Syndrom","synonyms":["CHOPS-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch globale Entwicklungsverzögerung, Intelligenzminderung, Kleinwuchs, Skelettanomalien (wie Brachydaktylie und Wirbelanomalien), Adipositas, kardiale, respiratorische und urogenitale Anomalien und Gesichtsdysmorphien (einschließlich grobe Gesichtszüge, dicke Augenbrauen, Synophrysen, Hypertelorismus, kurze, nach oben gerichtete Nase und langes Philtrum) gekennzeichnet ist. Weitere gemeldete Manifestationen sind Mikrozephalie, Hörstörungen, Katarakt und gastroösophagealer Reflux."},"es":{"name":"Síndrome de deterioro cognitivo-facies tosca-defectos cardíacos-obesidad-afectación pulmonar-talla baja-displasia esquelética","synonyms":["Síndrome CHOPS"],"definition":"Es un síndrome dismórfico/con anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por un retraso global del desarrollo, discapacidad intelectual, talla baja, anomalías esqueléticas (como braquidactilia y anomalías vertebrales), obesidad, anomalías cardíacas, respiratorias y genitourinarias, y rasgos faciales dismórficos (incluyendo facies tosca, cejas gruesas, sinofridia, hipertelorismo, nariz corta y con la punta elevada, y filtrum largo). Otras manifestaciones descritas incluyen microcefalia, afectación auditiva, cataratas y reflujo gastroesofágico."},"it":{"name":"Sindrome deficit cognitivo-facies grossolana-cardiopatia-obesità-coinvolgimento polmonare-bassa statura-displasia scheletrica","synonyms":["Sindrome CHOPS"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, bassa statura, anomalie scheletriche (brachidattilia e anomalie delle vertebre), obesità, cardiopatie, anomalie respiratorie e genitourinarie, e dismorfismi facciali (aspetto grossolano del viso, sopracciglia folte, sinofria, ipertelorismo, naso corto con la punta rivolta verso l'alto e filtro lungo). I pazienti possono presentare anche microcefalia, compromissione dell'udito, cataratta e reflusso gastroesofageo."},"nl":{"name":"Cognitieve beperking - grof aangezicht - hartdefecten - obesitas - pulmonale betrokkenheid - kleine gestalte - skeletdysplasie-syndroom","synonyms":["CHOPS-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, kleine gestalte, skeletanomalieën (zoals brachydactylie en vertebrale anomalieën), obesitas, cardiale, respiratoire en urogenitale anomalieën, en dysmorfe gelaatskenmerken (waaronder grove gelaatstrekken, dikke wenkbrauwen, synophrys, hypertelorisme, korte wipneus, en lang filtrum). Bijkomend gerapporteerde manifestaties zijn microcefalie, slechthorendheid, cataract, en gastro-oesofageale reflux."},"pt":{"name":"Síndrome de défice intelectual-facies grosseira-defeitos cardíacos-obesidade-envolvimento pulmonar-baixa estatura-displasia esquelética"},"pl":{"name":"Zespół zaburzeń poznawczych, grubych rysów twarzy, otyłości, zaburzeń płucnych, niskiego wzrostu i dysplazji szkieletowej","synonyms":["Zespół CHOPS"]},"cs":{"name":"Syndrom zahrnující kognitivní poruchu, hrubé rysy obličeje, srdeční defekty, obezitu, plicní poruchu, nízký vzrůst a skeletální dysplázii","synonyms":["CHOPS syndrom"]},"uk":{"name":"Синдром когнітивних порушень-грубих рис обличчя-вади серця-ожиріння-легеневого ураження - низькорослості-скелетної дисплазії","synonyms":["Синдром CHOPS"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux."},"zh":{"name":"先天发育异常-粗大面容-心脏缺陷-肥胖-肺部受累-身材矮小-骨骼发育异常综合征/CHOPS综合征","synonyms":["CHOPS综合征"]},"tr":{"name":"Bilişsel bozukluk-kaba yüz-kalp defektleri-obezite-pulmoner tutulum-kısa boy-iskelet displazisi sendromu","synonyms":["CHOPS sendromu"]}},"xrefs":[{"source":"OMIM","code":"616368","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014609","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4085597","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12845","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"AFF4","name":"ALF transcription elongation factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25730767[PMID]","hgnc":"17869","ensembl":"ENSG00000072364","omim":"604417","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"31058441[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31058441[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-09","source":"31058441[PMID]_25730767[PMID]","terms":[{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004602","label":"Cervical C2/C3 vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002212","label":"Curly hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025313","label":"Exophoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009937","label":"Facial hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006434","label":"Hypoplasia of proximal radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009894","label":"Thickened ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011221","label":"Vertical forehead creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null}]}}