{"orpha":2962,"name":"De Barsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cutis laxa-corneal clouding-intellectual disability syndrome","Progeroid syndrome, De Barsy type"],"definition":"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2962/","orphanet_url":"https://www.orpha.net/en/disease/detail/2962","names":{"fr":{"name":"Syndrome de De Barsy","synonyms":["Syndrome de cutis laxa-opacité cornéenne-déficience intellectuelle","Syndrome progéroïde type De Barsy"],"definition":"Le syndrome de De Barsy (DBS) est caractérisé par une dysmorphie faciale (fentes palpébrales obliques en bas et dehors, racine du nez large et plate et bouche petite) avec un aspect progéroïde, un retard de fermeture de la fontanelle, large, une cutis laxa (CL), une hyperlaxité ligamentaire, des mouvements athétoïdes avec hyperréflexie, un retard de croissance pré- et postnatal, un déficit intellectuel avec un retard du développement, une opacité cornéenne et une cataracte."},"de":{"name":"De Barsy-Syndrom","synonyms":["Cutis laxa - Hornhauttrübung - Intelligenzminderung","Progerie-Syndrom vom Typ de Barsy"],"definition":"Das de Barsy-Syndrom (DBS) ist gekennzeichnet durch faziale Dysmorphien (abwärts gerichtete Lidspalten, breiter und flacher Nasenrücken, kleiner Mund) mit progeroidem Aspekt, spät schließende große Fontanelle, Cutis laxa (CL), überstreckbare Gelenke, athetoide Bewegungen und gesteigerte Sehnenreflexe, prä- und postnatal verzögertes Wachstum, intellektuelles Defizit und verzögerte Entwicklung, sowie Hornhauttrübung und Katarakt."},"es":{"name":"Síndrome de De Barsy","synonyms":["Síndrome de cutis laxa-opacidad corneal-discapacidad intelectual","Síndrome progeroide tipo De Barsy"],"definition":"Es un síndrome caracterizado por dismorfia facial (fisuras palpebrales descendentes, puente nasal amplio y plano y boca pequeña) con una apariencia progeroide, fontanela grande y de cierre tardío, cutis laxa (CL), hiperlaxitud de las articulaciones, movimientos atetoides e hiperreflexia, retraso del crecimiento pre- y postnatal, déficit intelectual y retraso del desarrollo, opacificación corneal y cataratas."},"it":{"name":"Sindrome di De Barsy","synonyms":["Cutis laxa - opacità corneale - ritardo mentale","Sindrome progeroide, tipo De Barsy","Sindrome Cutis laxa-opacità corneale-disabilità intellettiva"]},"nl":{"name":"Syndroom van De Barsy","synonyms":["Cutis laxa - hoornvliestroebeling - intellectuele achterstand-syndroom","Progeroïd syndroom, De Barsy-type"],"definition":"Syndroom van De Barsy (DBS) wordt gekenmerkt door faciale dysmorfie (schuin naar beneden hellende ooglidspleten, brede en platte neusbrug, en kleine mond) met progeroïd uiterlijk, grote en laat sluitende fontanel, cutis laxa (CL), gewrichtshyperlaxiteit, athetoïde bewegingen en hyperreflexie, pre- en postnatale groeiretardatie, intellectuele achterstand en ontwikkelingsachterstand, en hoornvliestroebeling en cataract."},"pt":{"name":"Síndrome De Barsy","synonyms":["Síndrome de cutis laxa-opacidade da córnea-perturbação do desenvolvimento intelectual","Síndrome progeróide, tipo De Barsy"],"definition":"O síndrome de De Barsy (DBS) é caracterizado por dismorfismo facial (fissuras palpebrais inclinadas para baixo, ponte nasal larga e baixa e uma boca pequena) com uma aparência progeróide, fontanelas grandes e de encerramento tardio, cutis laxa (CL), hiperlaxidez articular, movimentos atetóides e hiperreflexia, atraso de crescimento pré e pós-natal, défice cognitivo e atraso do desenvolvimento, e opacificação da córnea e cataratas."},"pl":{"name":"Zespół de Barsy'ego","synonyms":["Skóra wiotka - zamglenie rogówki - niepełnosprawność intelektualna","Zespół progerii typu De Barsy"]},"cs":{"name":"De Barsyho syndrom","synonyms":["Syndrom zahrnující cutis laxa, zakalení rohovky a mentální retardaci","Progeroidní syndrom, De Barsyho typ"]},"uk":{"name":"Синдром де Барсі","synonyms":["Синдром Cutis laxa-помутніння рогівки-інтелектуальної недостатності","Прогероїдний синдром, тип Де Барсі"],"definition":"De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract."},"zh":{"name":"De Barsy综合征","synonyms":["皮肤松弛-角膜云翳-智力障碍综合征"]},"tr":{"name":"De Barsy sendromu","synonyms":["Progeroid sendromu, De Barsy tipi","Kutis laksa-korneal bulutlanma-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"219150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614438","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1718974486"},{"source":"MONDO","code":"0017569","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535990","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268354","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"49","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"orpha":289866,"name":"Disorder of proline metabolism","classifications":[150,156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[{"orpha":35664,"name":"ALDH18A1-related De Barsy syndrome","type":"Etiological subtype"},{"orpha":293633,"name":"PYCR1-related De Barsy syndrome","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ALDH18A1","name":"aldehyde dehydrogenase 18 family member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21739576[PMID]","hgnc":"9722","ensembl":"ENSG00000059573","omim":"138250","loci":["10q24.1"],"via":{"orpha":35664,"name":"ALDH18A1-related De Barsy syndrome"}},{"symbol":"PYCR1","name":"pyrroline-5-carboxylate reductase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22052856[PMID]","hgnc":"9721","ensembl":"ENSG00000183010","omim":"179035","loci":["17q25.3"],"via":{"orpha":293633,"name":"PYCR1-related De Barsy syndrome"}}],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2017-09-04","source":"19401719[PMID]_18388779[PMID]_21739576[PMID]_24913064[PMID]_4302249[PMID]_16780467[PMID]_9916839[PMID]_11424136[PMID]_3321993[PMID]_9916839[PMID]_8500259[PMID]_3321993[PMID]_4765201[PMID]","terms":[{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001476","label":"Delayed closure of the anterior fontanelle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","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:0010648","label":"Dermal translucency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025167","label":"Fragmented elastic fibers in the dermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001788","label":"Premature rupture of membranes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005272","label":"Prominent nasolabial fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007457","label":"Prominent veins on trunk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005425","label":"Recurrent sinopulmonary infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200141","label":"Small, conical teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001884","label":"Talipes calcaneovalgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030604","label":"Abnormal fundus fluorescein angiography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Excluded (0%)","criteria":null}]}}