{"orpha":93271,"name":"Short rib-polydactyly syndrome, Verma-Naumoff type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Short rib-polydactyly syndrome type 3"],"definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93271/","orphanet_url":"https://www.orpha.net/en/disease/detail/93271","names":{"fr":{"name":"Syndrome des côtes courtes-polydactylie type Verma-Naumoff","synonyms":["Syndrome des côtes courtes-polydactylie type 3"],"definition":"Ciliopathie rare avec atteinte osseuse majeure, caractérisée par des côtes courtes et un thorax extrêmement étroit, des os tubulaires très raccourcis avec des métaphyses arrondies et des éperons latéraux, ainsi que par des anomalies de multiples organes tels que le coeur, les reins, le foie, le pancréas, les intestins et les organes génitaux et, occasionnellement, un <i>situs inversus totalis</i>. Une fente labiale/palatine et une polydactylie peuvent également être observées. Le syndrome est létal en période prénatale ou périnatale."},"de":{"name":"Kurzrippen-Polydaktylie-Syndrom Typ Verma-Naumoff","synonyms":["Kurzrippen-Polydaktylie-Syndrom Typ 3"],"definition":"Eine seltene Ziliopathie mit starker Skelettbeteiligung, die durch kurze Rippen und einen extrem schmalen Thorax, stark verkürzte Röhrenknochen mit runden metaphysären Enden und seitlichen Spitzen sowie Anomalien mehrerer Organe wie Herz, Nieren, Leber, Bauchspeicheldrüse, Darm und Genitalien gekennzeichnet ist, wobei gelegentlich ein Situs inversus totalis auftritt. Lippen-/Gaumenspalte und Polydaktylie können ebenfalls vorhanden sein. Das Syndrom ist pränatal oder in der perinatalen Periode letal."},"es":{"name":"Síndrome de polidactilia y costillas cortas tipo Verma-Naumoff","synonyms":["Síndrome de polidactilia y costillas cortas tipo 3"],"definition":"Es una ciliopatía poco frecuente con afectación principalmente esquelética caracterizada por costillas cortas y tórax extremadamente angosto, huesos tubulares gravemente acortados con extremos metafisarios redondeados y picos laterales, y anomalías multiorgánicas que afectan al corazón, los riñones, el hígado, el páncreas, el intestino y los genitales, con la aparición ocasional de situs inversus totalis. Los pacientes también pueden presentar labio leporino/ paladar hendido y polidactilia. El síndrome es letal en el período prenatal o perinatal."},"it":{"name":"Sindrome costa corta-polidattilia, tipo Verma-Naumoff","synonyms":["Sindrome costa corta-polidattilia, tipo 3"],"definition":"Si tratta di una ciliopatia rara con un marcato coinvolgimento scheletrico, caratterizzata da costole corte e torace molto stretto, marcato accorciamento delle ossa tubulari con estremità metafisarie arrotondate ed escrescenze laterali, associate ad anomalie di diversi organi (cuore, reni, fegato, pancreas, intestino e genitali) e, occasionalmente, situs inverso totale. I pazienti possono presentare anche labio/palatoschisi e polidattilia. La malattia è letale nel periodo prenatale o perinatale."},"nl":{"name":"Korte rib - polydactylie-syndroom, Verma-Naumoff-type","synonyms":["Korte rib - polydactylie-syndroom type 3"],"definition":"Een zeldzame ciliopathie et ernstige betrokkenheid van skelet, gekarakteriseerd door korte ribben en extreem smalle thorax, ernstig verkorte pijpbeenderen met ronde metafysaire uiteinden en laterale spikes, en anomalieën van meerdere organen zoals hart, nier, lever, pancreas, darm, en geslachtsorganen, met soms optreden van situs inversus totalis. Gespleten lip/verhemelte en polydactylie kunnen ook aanwezig zijn. Het syndroom is fataal in de prenatale of perinatale periode."},"pt":{"name":"Síndrome costelas curtas-polidactilia, tipo Verma-Naumoff","synonyms":["Síndrome costelas curtas-polidactilia tipo 3"]},"pl":{"name":"Zespół krótkie żebro-polidaktylia typu Vermy i Naumoffa","synonyms":["Zespół krótkie żebro-polidaktylia typu 3"]},"cs":{"name":"Syndrom zahrnující krátká žebra a polydaktylii, Vermaův-Naumoffův typ","synonyms":["Syndrom zahrnující krátká žebra a polydaktylii, typ 3","Syndrom zahrnující krátká žebra a polydaktylii, Verma-Naumoffův typ"]},"uk":{"name":"Синдром короткореберної полідактилії, тип Верма-Наумова","synonyms":["Синдром полідактилії з короткими ребрами, тип 3"],"definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period."},"zh":{"name":"短肋-多指综合征，Verma-Naumoff型","synonyms":["短肋-多指综合征3型"],"definition":"Verma-Naumoff型短肋多指综合征，是一种短肋多指综合征，其特征是短肢侏儒症、短肋骨伴胸椎发育不良、轴后多指畸形和腹部隆起。相关的多种畸形包括心血管缺陷、肾发育不全、泄殖腔发育异常（生殖器模糊、肛门闭锁）和小脑发育不全。Verma-Naumoff型短肋骨多指综合征遵循常染色体隐性遗传模式。这种病在围产期通常是致命的。"},"tr":{"name":"Kısa kaburga-polidaktili sendromu, Verma-Naumoff tipi","synonyms":["Kısa kaburga-polidaktili sendromu tip 3"]}},"xrefs":[{"source":"OMIM","code":"613091","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614091","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615503","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615633","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.B0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1085403900"},{"source":"MeSH","code":"C537602","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432197","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4835","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":1505,"name":"Short rib-polydactyly syndrome","classifications":[147,156,184,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"DYNC2H1","name":"dynein cytoplasmic 2 heavy chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791528[PMID]_19442771[PMID]","hgnc":"2962","ensembl":"ENSG00000187240","omim":"603297","loci":["11q22.3"]},{"symbol":"DYNC2I1","name":"dynein 2 intermediate chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23910462[PMID]","hgnc":"21862","ensembl":"ENSG00000126870","omim":"615462","loci":["7q36.3"]},{"symbol":"DYNC2I2","name":"dynein 2 intermediate chain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24183449[PMID]","hgnc":"28296","ensembl":"ENSG00000119333","omim":"613363","loci":["9q34.11"]},{"symbol":"IFT80","name":"intraflagellar transport 80","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791528[PMID]_19648123[PMID]","hgnc":"29262","ensembl":"ENSG00000068885","omim":"611177","loci":["3q25.33"]},{"symbol":"WDR35","name":"WD repeat domain 35","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21473986[PMID]_22791528[PMID]","hgnc":"29250","ensembl":"ENSG00000118965","omim":"613602","loci":["2p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.2,"area":"United Arab Emirates","status":"Validated","source":"12769508[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"United Arab Emirates","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"16113563[PMID]_11316927[PMID]_ISBN:0195214749[OTHER]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009106","label":"Abnormal pelvis bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005716","label":"Lethal skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004599","label":"Absent or minimally ossified vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008716","label":"Urethrovaginal fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003762","label":"Uterus didelphys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010564","label":"Bifid epiglottis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}