{"orpha":1515,"name":"Cranioectodermal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CED","Sensenbrenner syndrome"],"definition":"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1515/","orphanet_url":"https://www.orpha.net/en/disease/detail/1515","names":{"fr":{"name":"Dysplasie cranio-ectodermique","synonyms":["CED","Syndrome de Sensenbrenner"],"definition":"La dysplasia cranio-ectodermique (CED) est un trouble du développement rare caractérisé par des anomalies squelettiques congénitales et ectodermiques associées à une dysmorphie, une néphronophtise, une fibrose hépatique et des anomalies oculaires (le plus souvent des rétinites pigmentaires)."},"de":{"name":"Dysplasie, kranioektodermale","synonyms":["CED","Sensenbrenner-Syndrom"],"definition":"Die Kranioektodermale Dysplasie (CED) ist eine seltene Entwicklungstörung mit angeborenen Defekten des Skeletts und Ektoderms, Dysmorphien, Nephronophthise, Leberfibrose und Augenanomalien (hauptsächlich Retinitis pigmentosa)."},"es":{"name":"Displasia cráneo-ectodérmica","synonyms":["CED","Síndrome de Sensenbrenner"],"definition":"La displasia cráneo-ectodérmica (CED) es un trastorno muy raro del desarrollo, caracterizado por defectos ectodérmicos y esqueléticos congénitos asociados a rasgos dismórficos, nefronoptisis, fibrosis hepática y anomalías oculares (principalmente retinitis pigmentosa)."},"it":{"name":"Displasia cranioectodermica","synonyms":["CED","Sindrome di Sensenbrenner"],"definition":"La displasia cranioectodermica (CED) è un raro disturbo dello sviluppo caratterizzato da difetti ectodermici e scheletrici congeniti associati a segni dismorfici, nefronoftisi, fibrosi epatica e anomalie oculari (per lo più, retinite pigmentosa)."},"nl":{"name":"Cranio-ectodermale dysplasie","synonyms":["CED","Syndroom van Sensenbrenner"],"definition":"Cranio-ectodermale dysplasie (CED) is een zeldzame ontwikkelingsstoornis die gekenmerkt wordt door congenitale skeletale en ectodermale afwijkingen geassocieerd met dysmorfe kenmerken en door nefronoftise, leverfibrose en oogaandoeningen (voornamelijk retinitis pigmentosa)."},"pt":{"name":"Displasia cranio-ectodérmica","synonyms":["CED","Síndrome Levin","Síndrome Sensenbrenner"],"definition":"A displasia cranioectodérmica (CED) é um transtorno do desenvolvimento raro caracterizado por defeitos congénitos esqueléticos e ectodérmicos associados com características dismórficas, nefronoftise, fibrose hepática e anomalias oculares (principalmente retinite pigmentosa)."},"pl":{"name":"Dysplazja czaszkowo-ektodermalna","synonyms":["CED","Zespół Sensenbrenner"],"definition":"Dysplazja czaszkowo-ektodermalna (CED) jest rzadką chorobą rozwojową, charakteryzującą się wrodzonymi wadami szkieletowymi i ektodermalnymi, a ponadto cechami dysmorfii, nefronoftyzą, zwłóknieniem wątroby oraz anomaliami ocznymi (głównie z pigmentozą siatkówki)."},"cs":{"name":"Kranioektodermální dysplázie","synonyms":["CED","Sensenbrennerův syndrom"]},"uk":{"name":"Краніоектодермальна дисплазія","synonyms":["CED","Синдром Сенсенбреннера"],"definition":"Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."},"zh":{"name":"颅骨外胚层发育不良","synonyms":["Sensenbrenner综合征"]},"tr":{"name":"Kraniyoektodermal displazi","synonyms":["CED","Sensenbrenner sendromu"]}},"xrefs":[{"source":"OMIM","code":"218330","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613610","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614099","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614378","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617102","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1588881145"},{"source":"MONDO","code":"0009032","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551571","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"359","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":1505,"name":"Short rib-polydactyly syndrome","classifications":[147,156,184,199]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"IFT122","name":"intraflagellar transport 122","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791528[PMID]_24027799[PMID]_21438135[PMID]","hgnc":"13556","ensembl":"ENSG00000163913","omim":"606045","loci":["3q21.3-q22.1"]},{"symbol":"IFT43","name":"intraflagellar transport 43","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791528[PMID]_24027799[PMID]","hgnc":"29669","ensembl":"ENSG00000119650","omim":"614068","loci":["14q24.3"]},{"symbol":"IFT52","name":"intraflagellar transport 52","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26880018[PMID]_27466190[PMID]","hgnc":"15901","ensembl":"ENSG00000101052","omim":"617094","loci":["20q13.12"]},{"symbol":"WDR19","name":"WD repeat domain 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791528[PMID]_24027799[PMID]","hgnc":"18340","ensembl":"ENSG00000157796","omim":"608151","loci":["4p14"]},{"symbol":"WDR35","name":"WD repeat domain 35","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791528[PMID]_24027799[PMID]_21438135[PMID]","hgnc":"29250","ensembl":"ENSG00000118965","omim":"613602","loci":["2p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"24027799[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24027799[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Occasional (29-5%)","criteria":null}]}}