{"orpha":3144,"name":"Schneckenbecken dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Chondrodysplasia with snail-like pelvis","SLC35D1-CDG"],"definition":"A rare spondylodysplastic dysplasia characterized by the typical radiographic finding of snail-like configuration of the hypoplastic iliac bones. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus. The malformation is lethal perinatally.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3144/","orphanet_url":"https://www.orpha.net/en/disease/detail/3144","names":{"fr":{"name":"Dysplasie Schneckenbecken","synonyms":["Chondrodysplasie avec bassin en escargot","SLC35D1-CDG"],"definition":"Dysplasie spondylo-dysplasique rare caractérisée par un signe radiographique typique&nbsp;: une configuration en «&nbsp;coquille d'escargot&nbsp;» des os iliaques hypoplasiques. Les autres signes sont des corps vertébraux aplatis et hypoplasiques, des côtes courtes, des péronés courts et larges, des os longs courts et larges présentant un aspect en «&nbsp;haltère&nbsp;», ainsi qu'une ossification précoce du tarse. Cette malformation est létale en période périnatale."},"de":{"name":"Schneckenbecken-Dysplasie","synonyms":["Chondrodysplasie mit schneckenähnlichem Becken","SLC35D1-CDG"],"definition":"Die Schneckenbecken-Dysplasie (oder Chondrodysplasie mit schneckenähnlichem Becken) ist eine pränatal lethale spondylodysplastische Dysplasie."},"es":{"name":"Displasia de Schneckenbecken","synonyms":["Condrodisplasia con pelvis en espiral","SLC35D1-CDG"],"definition":"La displasia de Schneckenbecken (o condrodisplasia con pelvis con estructura en espiral) es una displasia espondilodisplásica letal prenatal. S"},"it":{"name":"Displasia di Schneckenbecken","synonyms":["Condrodisplasia con bacino a chiocciola","SLC35D1-CDG"]},"nl":{"name":"Schneckenbecken-dysplasie","synonyms":["SLC35D1-CDG","Chondrodysplasie met slakachtige pelvis"],"definition":"Schneckenbecken-dysplasie (of chondrodysplasie met slakachtig bekken) is een prenataal letale spondylodysplastische dysplasie."},"pt":{"name":"Displasia de Schneckenbecken","definition":"A displasia de Schneckenbecken (ou condrodisplasia com pelvis em forma de caracol) é uma displasia espondilodisplásica letal no período pré-natal."},"pl":{"name":"Dysplazja Schneckenbeckena","synonyms":["Chondrodysplazja z miednicą podobną do węża","SLC35D1-CDG"]},"cs":{"name":"Schneckenbecken dysplázie","synonyms":["Chondrodysplázie s pánevní kostí vzhledu slimáka","SLC35D1-CDG"]},"uk":{"name":"Дисплазія Шнекенбекена","synonyms":["Хондродисплазія з равликоподібним тазом","SLC35D1-CDG"],"definition":"Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia."},"zh":{"name":"脊柱元骨骺发育不良发育不良","synonyms":["软骨发育不良伴蜗牛样骨盆"]},"tr":{"name":"Schneckenbecken displazisi","synonyms":["SLC35D1-CDG","Salyangoz benzeri pelvis ile seyreden kondrodisplazi"]}},"xrefs":[{"source":"OMIM","code":"269250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"584032448"},{"source":"MONDO","code":"0010013","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536637","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432194","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"169","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","classifications":[147,156]},{"orpha":309463,"name":"Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis","classifications":[150,156]},{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SLC35D1","name":"solute carrier family 35 member D1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19508970[PMID]","hgnc":"20800","ensembl":"ENSG00000116704","omim":"610804","loci":["1p31.3"]},{"symbol":"INPPL1","name":"inositol polyphosphate phosphatase like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25997753[PMID]","hgnc":"6080","ensembl":"ENSG00000165458","omim":"600829","loci":["11q13.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25997753[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","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:0003038","label":"Fibular hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008479","label":"Hypoplastic vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012107","label":"Increased fibular diameter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000895","label":"Lateral clavicle hook","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","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:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008108","label":"Advanced tarsal ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000947","label":"Dumbbell-shaped long bone","frequency":"Occasional (29-5%)","criteria":null}]}}