{"orpha":2849,"name":"Perlman syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome"],"definition":"A rare overgrowth syndrome characterized by polyhydramnios, pre- and postnatal macrosomia, muscular hypotonia, renal anomalies, organomegaly, abdominal distension, cryptorchidism, typical facial dysmorphism, neurodevelopmental delay and high neonatal mortality. Individuals surviving infancy show a high risk of developing Wilms tumor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2849/","orphanet_url":"https://www.orpha.net/en/disease/detail/2849","names":{"fr":{"name":"Syndrome de Perlman","synonyms":["Syndrome de néphroblastomatose-ascite foetale-macrosome-tumeur de Wilms"],"definition":"Syndrome rare avec croissance excessive caractérisé par un polyhydramnios, une macrosomie pré- et postnatale, une hypotonie musculaire, des anomalies rénales, une organomégalie, une distension abdominale, une cryptorchidie, une dysmorphie faciale typique, un retard de développement neurologique et un taux élevé de décès de nouveau-nés. Les patients qui survivent au-delà de la petite-enfance présentent un risque élevé de développer une tumeur de Wilms."},"de":{"name":"Perlman-Syndrom","synonyms":["Nephroblastom - fetaler Aszites - Makrosomie - Wilms Tumor"],"definition":"Ein seltenes Grosswuchssyndrom, das durch Polyhydramnion, prä- und postnatale Makrosomie, Muskelhypotonie, Nierenanomalien, Organomegalie, abdominale Distension, Kryptorchismus, typische Gesichtsdysmorphien, neurologische Entwicklungsverzögerung und hohe neonatale Mortalität gekennzeichnet ist. Personen, die das Säuglingsalter überleben, weisen ein hohes Risiko auf, einen Wilms-Tumor zu entwickeln."},"es":{"name":"Síndrome de Perlman","synonyms":["Nefroblastomatosis-ascitis fetal-macrosomía-tumor de Wilms"],"definition":"Es un síndrome de sobrecrecimiento poco frecuente que se caracteriza por polihidramnios, macrosomía pre- y posnatal, hipotonía muscular, anomalías renales, organomegalia, distensión abdominal, criptorquidia, dismorfia facial característica, retraso del neurodesarrollo y elevada mortalidad neonatal. Los pacientes que sobreviven a la infancia presentan un alto riesgo de desarrollar tumor de Wilms."},"it":{"name":"Sindrome di Perlman","synonyms":["Nefroblastomatosi - ascite fetale - macrosomia - tumore di Wilms"]},"nl":{"name":"Syndroom van Perlman","synonyms":["Nefroblastomatose - foetale ascites - macrosomie - Wilmstumor-syndroom"],"definition":"Een zeldzaam overgroeisyndroom, gekenmerkt door polyhydramnion, pre- en postnatale macrosomie, spierhypotonie, nieranomalieën, organomegalie, abdominale distensie, cryptorchisme, typische faciale dysmorfie, neurologische ontwikkelingsachterstand en hoge neonatale mortaliteit. Individuen die de zuigelingentijd overleven, vertonen een hoog risico op ontwikkeling van Wilmstumor."},"pt":{"name":"Síndrome Perlman","synonyms":["Síndrome de nefroblastomatose-ascite fetal-macrossomia-tumor de Wilms"],"definition":"A síndrome de Perlman é caracterizada principalmente por polihidrâmnio, macrossomia neonatal, tumores renais bilaterais (hamartomas com ou sem nefroblastomatose), hipertrofia das ilhotas de Langerhans e dismorfismo facial."},"pl":{"name":"Zespół Perlmana","synonyms":["Nefroblastomatoza - wodobrzusze płodu - makrosomia - guz Wilmsa"],"definition":"Rzadki zespół przerostowy charakteryzujący się wielowodziem, makrosomią przed- i poporodową, hipotonią mięśniową, wadami nerek, organomegalią, wzdęciem brzucha, wnętrostwem, typową dysmorfią twarzy, zaburzeniami neurorozwojowymi oraz wysoką śmiertelnością noworodków. U dzieci które przeżyły okres niemowlęcy podwyższone jest ryzyko wystąpienia guza Wilmsa."},"cs":{"name":"Perlmanův syndrom","synonyms":["Syndrom zahrnující nefroblastomatózu, fetální ascites, makrosomii a Wilmsův tumor"]},"uk":{"name":"Синдром Перлмана","synonyms":["Синдром нефробластоматозу - асциту плода - макросомії - пухлини Вільмса"],"definition":"Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism."},"zh":{"name":"Perlman综合征","synonyms":["肾母细胞瘤-胎儿腹水-巨大儿-Wilms瘤综合征"]},"tr":{"name":"Perlman sendromu","synonyms":["Nefroblastomatozis-fetal asit-makrozomi-Wilms tümör sendromu"]}},"xrefs":[{"source":"OMIM","code":"267000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"795682441"},{"source":"MONDO","code":"0009965","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536399","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796113","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3936","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088870","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]}],"children":[],"genes":[{"symbol":"DIS3L2","name":"DIS3 like 3'-5' exoribonuclease 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22306653[PMID]","hgnc":"28648","ensembl":"ENSG00000144535","omim":"614184","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"18780370[PMID]_28328139[PMID]_38161545[PMID]_34964966[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"18780370[PMID]_28328139[PMID]_38161545[PMID]_34964966[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-27","source":"22306653[PMID]","terms":[{"hpo":"HP:0000177","label":"Abnormality of upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012090","label":"Abnormal pancreas morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000187","label":"Broad alveolar ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010733","label":"Naevus flammeus of the eyelid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null}]}}