{"orpha":921,"name":"Abruzzo-Erickson syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CHARGE-like syndrome","Cleft palate-coloboma-deafness syndrome","Cleft palate-coloboma-hearing loss syndrome"],"definition":"An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-921/","orphanet_url":"https://www.orpha.net/en/disease/detail/921","names":{"fr":{"name":"Syndrome d'Abruzzo-Erickson","synonyms":["Syndrome de fente palatine-colobome-surdité"],"definition":"Syndrome avec fente oro-faciale caractérisé par une fente palatine, un colobome oculaire, un hypospadias, une surdité de transmission et neurosensorielle, une petite taille et une synostose radio-ulnaire."},"de":{"name":"Abruzzo-Erickson-Syndrom","synonyms":["CHARGE-ähnliches Syndrom","Kieferspalte - Kolobom - Innenohrtaubheit"],"definition":"Eine syndromale Form der orofazialen Spaltbildung, die definiert ist durch das Zusammentreffen von Gaumenspalte, Kolobom, Hypospadie, gemischte Schallleitungsschwerhörigkeit, Kleinwuchs und radio-ulnarer Synostose."},"es":{"name":"Síndrome de Abruzzo-Erickson","synonyms":["Síndrome de paladar hendido-coloboma-hipoacusia","Síndrome de paladar hendido-coloboma-sordera","Síndrome tipo CHARGE"],"definition":"Es un síndrome de hendidura orofacial caracterizado por paladar hendido, coloboma ocular, hipospadias, hipoacusia mixta conductiva-neurosensorial, talla baja y sinostosis radiocubital."},"it":{"name":"Sindrome di Abruzzo-Erickson","synonyms":["Sindrome palatoschisi-coloboma-sordità"],"definition":"La sindrome di Abruzzo-Erickson è una sindrome da schisi oro-facciali, caratterizzata da palatoschisi, coloboma oculare, ipospadia, sordità mista conduttiva-neurosensoriale, bassa statura e sinostosi radio-ulnare."},"nl":{"name":"Syndroom van Abruzzo-Erickson","synonyms":["CHARGE-achtig syndroom","Gespleten verhemelte - coloboom - doofheid-syndroom"],"definition":"Een orofaciale splijtingsyndroom dat gekarakteriseerd wordt door een gespleten verhemelte, oculair coloboom, hypospadieën, gemengd conductief-sensorineuraal gehoorverlies, een kleine gestalte, en radio-ulnaire synostose."},"pt":{"name":"Síndrome Abruzzo-Erickson","synonyms":["Síndrome CHARGE-like","Síndrome de fenda palatina-coloboma-sinostose radial-surdez"]},"pl":{"name":"Zespół Abruzzo i Ericksona","synonyms":["Zespół podobny do zespołu CHARGE","Zespół rozszczepu podniebienia, szczeliny gałki ocznej i głuchoty"]},"cs":{"name":"Abruzzoův-Ericksonův syndrom","synonyms":["CHARGE-like syndrom","Syndrom zahrnující rozštěp patra, kolobom a hluchotu","Abruzzo-Ericksonův syndrom"]},"uk":{"name":"Синдром Абруццо-Еріксона","synonyms":["CHARGE-подібний синдром","Синдром розщілини піднебіння-колобоми-глухоти","Синдром розщілини піднебіння-колобоми-глухоти"],"definition":"An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis."},"zh":{"name":"Abruzzo-Erickson综合征","synonyms":["腭裂-眼缺损-听力丧失综合征"]},"tr":{"name":"Abruzzo-Erickson sendromu","synonyms":["CHARGE-benzeri sendrom","Yarık damak-koloboma-sağırlık sendromu","Yarık damak-kolobom-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"302905","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010554","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844862","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"360","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"TBX22","name":"T-box transcription factor 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22784330[PMID]","hgnc":"11600","ensembl":"ENSG00000122145","omim":"300307","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"839509[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":null,"terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008743","label":"Coronal hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}