{"orpha":1225,"name":"Baller-Gerold syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic craniosynostosis characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1225/","orphanet_url":"https://www.orpha.net/en/disease/detail/1225","names":{"fr":{"name":"Syndrome de Baller-Gerold","synonyms":["Syndrome de craniosynostose-aplasie radiale"],"definition":"Craniosynostose syndromique rare caractérisée par l'association d'une craniosynostose coronale et d'anomalies du rayon radial (oligodactylie, aplasie ou hypoplasie du pouce, aplasie ou hypoplasie du radius)."},"de":{"name":"Baller-Gerold-Syndrom","synonyms":["Syndrom der Kraniosynostose und Radiusaplasie"],"definition":"Das Baller-Gerold-Syndrom ist gekennzeichnet durch Kranznaht-Synostose und Anomalien des radialen Strahls (Oligodaktylie, Daumenaplasie oder -hypoplasie, Radiusaplasie oder -hypoplasie)."},"es":{"name":"Síndrome de Baller-Gerold","definition":"El síndrome de Baller-Gerold se caracteriza por la asociación de una craneosinostosis coronal con anomalías del eje radial (oligodactilia, aplasia o hipoplasia del pulgar, aplasia o hipoplasia de radio)."},"it":{"name":"Sindrome di Baller-Gerold","synonyms":["Craniosinostosi - aplasia radiale"]},"nl":{"name":"Syndroom van Baller-Gerold","definition":"Syndroom van Baller-Gerold wordt gekenmerkt door de associatie van craniosynostose sutura coronalis (kroonnaad) met anomalieën van radiale straal (oligodactylie, aplasie of hypoplasie van duim, aplasie of hypoplasie van radius)."},"pt":{"name":"Síndrome Baller-Gerold","synonyms":["Síndrome de craniossinostose-aplasia radial"],"definition":"A síndrome de Baller-Gerold caracteriza-se pela associação de craniossinostose coronal com anomalias radiais (oligodactilia, aplasia ou hipoplasia do polegar, aplasia ou hipoplasia do rádio)."},"pl":{"name":"Zespół Ballera i Gerolda"},"cs":{"name":"Ballerův-Geroldův syndrom","synonyms":["Baller-Geroldův syndrom"]},"uk":{"name":"Синдром Баллера-Герольда","definition":"Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)."},"zh":{"name":"Baller-Gerold综合征"},"tr":{"name":"Baller-Gerold sendromu"}},"xrefs":[{"source":"OMIM","code":"218600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1650688177"},{"source":"MONDO","code":"0009039","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536788","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265308","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1602","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"RECQL4","name":"RecQ like helicase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301383[PMID]_15964893[PMID]","hgnc":"9949","ensembl":"ENSG00000160957","omim":"603780","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"29080750[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29080750[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000244","label":"Brachyturricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009380","label":"Finger aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001191","label":"Abnormal carpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002669","label":"Osteosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}