{"orpha":85199,"name":"Craniosynostosis-anal anomalies-porokeratosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CAP syndrome","CDAGS syndrome"],"definition":"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85199/","orphanet_url":"https://www.orpha.net/en/disease/detail/85199","names":{"fr":{"name":"Syndrome de craniosynostose-anomalies anales-porokératose","synonyms":["Syndrome CAP","Syndrome CDAGS"],"definition":"Craniosynostose - anomalies anales - porokératose est un syndrome très rare associant une craniosynostose associée à une hypoplasie des clavicules, avec un retard de fermeture des fontanelles, des malformations anales et génito-urinaires et des lésions cutanées."},"de":{"name":"Kraniosynostose-anale Anomalien-Porokeratose-Syndrom","synonyms":["CAP-Syndrom","CDAGS-Syndrom"],"definition":"Das Syndrom Kraniosynostose - Anal-Anomalien - Porokeratose oder CDAGS ist eine sehr seltene Krankheit und gekennzeichnet durch Kraniosynostose und Schlüsselbeinhypoplasie (C), verspäteten Fontanellenschluss (D), Analfehlbildungen (A), Fehlbildungen des Urogenitaltrakts (G) und Hautausschlag (S)."},"es":{"name":"Síndrome de craneosinostosis-anomalías anales-poroqueratosis","synonyms":["Síndrome CAP","Síndrome CDAGS"],"definition":"Es un síndrome muy poco frecuente caracterizado por craneosinostosis e hipoplasia clavicular, retraso en el cierre de las fontanelas, anomalías anales, malformaciones genitourinarias y erupción cutánea."},"it":{"name":"Craniosinostosi - anomalie anali - porocheratosi","synonyms":["Sindrome CAP","Sindrome CDAGS"]},"nl":{"name":"Craniosynostose - anale anomalieën - porokeratose-syndroom","synonyms":["CAP-syndroom","CDAGS-syndroom"],"definition":"Een zeer zeldzame aandoening, gekenmerkt door craniosynostose en hypoplasie van clavicula (C), vertraagde sluiting van fontanel (D), anale anomalieën (A), urogenitale malformaties (G), en huideruptie (S)."},"pt":{"name":"Craniossinostose - anomalia anal - poroqueratose","definition":"A craniossinostose - anomalias anais - poroqueratose, ou CDAGS, é uma patologia muito rara, caracterizada por craniossinostose e hipoplasia clavicular (C), encerramento tardio da fontanela (D), anomalias anais (A), malformações genitourinárias (G) e erupção cutânea (S)."},"pl":{"name":"Kraniosynostoza - wady odbytu - rogowacenie kanalikowe","synonyms":["Zespół CAP","Zespół CDAGS"]},"cs":{"name":"Syndrom zahrnující kraniosynostózu, anomálie anu a porokeratózu","synonyms":["CAP syndrom","CDAGS syndrom"]},"uk":{"name":"Синдром краніосиностозу-аномалії анального отвору-порокератозу","synonyms":["Синдром гострої коронарної недостатності","Синдром CDAGS"],"definition":"Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)."},"zh":{"name":"颅缝早闭-肛门畸形-汗孔角化综合征","synonyms":["CDAGS综合征"]},"tr":{"name":"Kraniosinostozis-anal anomaliler-porokeratoz sendromu","synonyms":["CAP sendromu","CDAGS sendromu"]}},"xrefs":[{"source":"OMIM","code":"603116","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2106621307"},{"source":"MONDO","code":"0011287","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536789","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864186","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9506","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2060,"name":"Fukuda-Miyanomae-Nakata syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93451,"name":"Cleidocranial dysplasia and isolated cranial ossification defect","classifications":[147,156,199]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"RNU12","name":"RNA, U12 small nuclear","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34085356[PMID]","hgnc":"19380","ensembl":"ENSG00000276027","omim":"620204","loci":["22q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"15924278[PMID]_24095818[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"15924278[PMID]","terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004491","label":"Large posterior fontanelle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002697","label":"Parietal foramina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200044","label":"Porokeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012742","label":"Thin fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}