{"orpha":281,"name":"Monosomy 5p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cri du chat syndrome","Deletion 5p"],"definition":"A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-281/","orphanet_url":"https://www.orpha.net/en/disease/detail/281","names":{"fr":{"name":"Syndrome de monosomie 5p","synonyms":["Délétion 5p","Syndrome du cri du chat"],"definition":"Anomalie rare du développement embryonnaire, résultant d'une délétion partielle ou totale du bras court du chromosome 5, caractérisée classiquement par un cri aigu, monotone, semblable à celui d'un chat (cri du chat), présent depuis la naissance, associé à divers degrés de déficience intellectuelle, de retard de développement, de microcéphalie et de dysmorphie faciale."},"de":{"name":"5p-minus-Syndrom","synonyms":["Chromosom-5p-Syndrom","Cri-du-chat-Syndrom","Deletion 5p","Katzenschrei-Syndrom","Monosomie 5p"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die aus einer teilweisen oder vollständigen Deletion des kurzen Arms von Chromosom 5 resultiert und klassischerweise durch einen hohen, monotonen, katzenartigen Schrei (cri du chat) gekennzeichnet ist, der von Geburt an vorhanden ist und mit unterschiedlichen Graden von Intelligenzminderung, Entwicklungsverzögerung, Mikrozephalie und Gesichtsdysmorphien einhergeht."},"es":{"name":"Síndrome de monosomía 5p","synonyms":["Deleción 5p-","Síndrome 'cri-du-chat'","Síndrome del maullido de gato"],"definition":"Es un trastorno del desarrollo durante la embriogénesis poco frecuente causado por una deleción total o parcial del brazo corto del cromosoma 5. Clásicamente se caracteriza por llanto agudo y monotónico en maullido (cri du chat, en francés) desde el nacimiento, asociado a un grado variable de discapacidad intelectual, retraso psicomotor, microcefalia y dismorfia facial."},"it":{"name":"Sindrome da monosomia 5p","synonyms":["Delezione 5p","Sindrome del \"cri du chat\""],"definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, causato dalla delezione parziale o completa del braccio corto del cromosoma 5. Di solito la malattia è caratterizzata da un pianto acuto e monotono che ricorda il miagolio di un gatto (''cri du chat'') presente sin dalla nascita, associato a disabilità intellettiva di gravità variabile, ritardo dello sviluppo, microcefalia e dismorfismi facciali."},"nl":{"name":"Monosomie 5p-syndroom","synonyms":["Cri-du-chat syndroom","Deletie 5p"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese als gevolg van partiële of volledige deletie van de korte arm van chromosoom 5, gekarakteriseerd door een hoog, monotoon, katachtig gehuil (cri du chat) vanaf de geboorte, geassocieerd met variabele gradaties van intellectuele achterstand, ontwikkelingsachterstand, microcefalie, en faciale dysmorfie."},"pt":{"name":"Monossomia 5p","synonyms":["Deleção 5p","Síndrome do miar do gato"]},"pl":{"name":"Zespół monosomii 5p","synonyms":["Delecja 5p","Zespół kociego płaczu"]},"cs":{"name":"Monozomie 5p","synonyms":["Syndrom cri du chat","Delece 5p","Syndrom kočičího křiku"]},"uk":{"name":"Моносомія 5p","synonyms":["Синдром котячого крику","Делеція 5p"],"definition":"A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism."},"zh":{"name":"单体型5p","synonyms":["猫叫综合征"]},"tr":{"name":"Monozomi 5p","synonyms":["Delesyon 5p","Cri du chat sendromu"]}},"xrefs":[{"source":"OMIM","code":"123450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD44.51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"620584190"},{"source":"MONDO","code":"0007404","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003410","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010314","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011385","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":261893,"name":"Partial deletion of the short arm of chromosome 5 syndrome","classifications":[147,156]},{"orpha":98574,"name":"Syndromic epicanthus","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"SEMA5A","name":"semaphorin 5A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10736","ensembl":"ENSG00000112902","omim":"609297","loci":["5p15.31"]},{"symbol":"CTNND2","name":"catenin delta 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"2516","ensembl":"ENSG00000169862","omim":"604275","loci":["5p15.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Japan","status":"Validated","source":"2092586[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.22,"area":"Denmark","status":"Validated","source":"365706[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200046","label":"Cat cry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null}]}}