{"orpha":3455,"name":"Wiedemann-Rautenstrauch syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Neonatal progeroid syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3455/","orphanet_url":"https://www.orpha.net/en/disease/detail/3455","names":{"fr":{"name":"Syndrome de Wiedemann-Rautenstrauch","synonyms":["Syndrome progéroïde néonatal"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un retard marqué de croissance prénatale et postnatale, une perte du tissu adipeux sous-cutané, une hypotrichose, une macrocéphalie relative et une dysmorphie faciale. Une déficience intellectuelle légère à modérée est fréquente."},"de":{"name":"Wiedemann-Rautenstrauch-Syndrom","synonyms":["Progeroides neonatales Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine ausgeprägte pränatale und postnatale Wachstumsverzögerung, vermindertes subkutanes Fettgewebe, Hypotrichose, relative Makrozephalie und ein ungewöhnliches Gesicht gekennzeichnet ist. Eine leichte bis mittlere Intelligenzminderung ist häufig."},"es":{"name":"Síndrome de Wiedemann-Rautenstrauch","definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas poco frecuente caracterizado por un marcado retraso del crecimiento pre- y posnatal, disminución de la grasa subcutánea, hipotricosis, macrocefalia relativa y una cara inusual. La discapacidad intelectual de leve a moderada es una característica común."},"it":{"name":"Sindrome di Wiedemann-Rautenstrauch","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da marcato ritardo della crescita pre- e postnatale, riduzione del grasso sottocutaneo, ipotricosi, macrocefalia relativa e dismorfismi facciali. È comune la disabilità intellettiva lieve-moderata."},"nl":{"name":"Syndroom van Wiedemann-Rautenstrauch","synonyms":["Neonataal progeroïd syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door opmerkelijke prenatale en postnatale groeiretardatie, verminderde hoeveelheid subcutaan vetweefsel, hypotrichose, relatieve macrocefalie, en een ongewoon aangezicht. Milde tot matige intellectuele achterstand is gangbaar."},"pt":{"name":"Síndrome Wiedemann-Rautenstrauch","synonyms":["Síndrome progeróide neonatal"],"definition":"Síndrome rara de anomalias congénitas múltiplas/dismorfia caracterizada por um acentuado atraso de crescimento pré-natal e pós-natal, diminuição da gordura subcutânea, hipotricose, macrocefalia relativa e uma facies distinta. É comum a ocorrência de perturbação do desenvolvimento intelectual ligeira a moderada."},"pl":{"name":"Zespół Wiedemanna i Rautenstraucha","synonyms":["Noworodkowy zespół progeroidalny"]},"cs":{"name":"Wiedemannův-Rautenstrauchův syndrom","synonyms":["Neonata´lni´ progeroidni´ syndrom","Neonatální progeroidní syndrom","Wiedemann-Rautenstrauchův syndrom"]},"uk":{"name":"Синдром Відемана-Раутенштрауха","synonyms":["Неонатальний прогероїдний синдром"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common."},"zh":{"name":"Wiedemann-Rautenstrauch综合征","synonyms":["新生儿早老样综合征"]},"tr":{"name":"Wiedemann-Rautenstrauch sendromu","synonyms":["Yenidoğan progeroid sendromu"]}},"xrefs":[{"source":"OMIM","code":"264090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1409892442"},{"source":"MONDO","code":"0009910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406586","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"330","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"POLR3A","name":"RNA polymerase III subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30323018[PMID]","hgnc":"30074","ensembl":"ENSG00000148606","omim":"614258","loci":["10q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"EXPERT"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28447407[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-11","source":"319005[PMID]_7262096[PMID]_10607952[PMID]_9152846[PMID]_9664208[PMID]_19938095[PMID]_17523150[PMID]_21671373[PMID]_25421132[PMID]_26691040[PMID]_28447407[PMID]_18717246[PMID]_26691040[PMID]_18717246[PMID]","terms":[{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009059","label":"Congenital generalized lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000621","label":"Entropion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000292","label":"Loss of facial adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001043","label":"Prominent scalp veins","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004492","label":"Widely patent fontanelles and sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008386","label":"Aplasia/Hypoplasia of the nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011410","label":"Caesarian section","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000267","label":"Cranial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010648","label":"Dermal translucency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","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:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009003","label":"Increased subcutaneous truncal adipose tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008476","label":"Irregular sclerotic endplates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011819","label":"Submucous cleft soft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006470","label":"Thin long bone diaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012811","label":"Wide nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010994","label":"Abnormal corpus striatum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000387","label":"Absent earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003413","label":"Atlantoaxial abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008469","label":"Cervical vertebral dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100581","label":"Dilatation of renal calices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008479","label":"Hypoplastic vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030265","label":"Wide penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045017","label":"Congenital malformation of the left heart","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005164","label":"Dysplastic pulmonary valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025134","label":"Increased serum estradiol","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030001","label":"Lagophthalmos","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null}]}}