{"orpha":794,"name":"Saethre-Chotzen syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ACS3","Acrocephalosyndactyly type 3","SCS"],"definition":"A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-794/","orphanet_url":"https://www.orpha.net/en/disease/detail/794","names":{"fr":{"name":"Syndrome de Saethre-Chotzen","synonyms":["ACS3","Acro-céphalo-syndactylie type 3","SCS"],"definition":"Syndrome caractérisé par une synostose coronale unilatérale ou bilatérale, une asymétrie faciale, un ptosis, un strabisme et de petites oreilles avec une racine de l'hélix proéminente, parmi d'autres manifestations moins fréquentes."},"de":{"name":"Saethre-Chotzen-Syndrom","synonyms":["ACS3","Akrozephalosyndaktylie Typ 3","SCS"],"definition":"Ein Syndrom, das u. a. durch ein- oder beidseitige koronale Synostose, Gesichtsasymmetrie, Ptosis, Strabismus und kleine Ohren mit hervorstehendem superioren und/oder inferioren Crus gekennzeichnet ist."},"es":{"name":"Síndrome de Saethre-Chotzen","synonyms":["ACS3","Acrocefalosindactilia tipo 3","SCS"],"definition":"Es un síndrome caracterizado por sinostosis coronaluni- o bilateral, asimetría facial, ptosis, estrabismo y orejas pequeñas con segmento superior y/o inferior del hélix prominente, entre otras manifestaciones menos frecuentes."},"it":{"name":"Sindrome di Saethre-Chotzen","synonyms":["ACS3","Acrocefalosindattilia, tipo 3","SCS"],"definition":"La sindrome di Saethre-Chotzen (SCS) è caratterizzata da sinostosi coronale mono- o bilaterale, asimmetria facciale, ptosi, strabismo e orecchie piccole con crus superiore e/o inferiore prominente, associati ad altri segni clinici meno comuni."},"nl":{"name":"Syndroom van Saethre-Chotzen","synonyms":["ACS 3","Acrocefalosyndactylie type 3","SCS"],"definition":"Een syndroom, gekarakteriseerd door unilaterale of bilaterale coronale synostose, asymmetrie van aangezicht, ptose, strabisme, en kleine oren met prominente superieure en/of inferieure crus helicis, naast andere, minder gangbare manifestaties."},"pt":{"name":"Síndrome Saethre-Chotzen","synonyms":["ACS 3","Acrocefalossindactilia tipo 3"],"definition":"Síndrome caracterizado por sinostose coronal unilateral ou bilateral, assimetria facial, ptose, estrabismo e orelhas pequenas com crura superior e/ou inferior proeminente, entre outras manifestações menos comuns."},"pl":{"name":"Zespół Saethre i Chotzena","synonyms":["ACS 3","Akrocefalopolisyndaktylia typ 3"]},"cs":{"name":"Saethreův-Chotzenův syndrom","synonyms":["ACS3","Akrocefalosyndaktylie, typ 3","SCS","Saethre-Chotzenův syndrom"]},"uk":{"name":"Синдром Сетре-Хотцена","synonyms":["Акроцефалосиндактилія 3 типу","ACS3","SCS"],"definition":"A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations."},"zh":{"name":"Saethre-Chotzen综合征","synonyms":["尖头并指畸形3型"]},"tr":{"name":"Saethre-Chotzen sendromu","synonyms":["SCS","ACS3","Akrosefalosindaktili tip 3"]}},"xrefs":[{"source":"OMIM","code":"101400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"180750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2109857109"},{"source":"MONDO","code":"0007042","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175699","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7598","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1219,"name":"Aurocephalosyndactyly","status":"inactive"},{"type":"Moved to","orpha":3106,"name":"Robinow-Sorauf syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98684,"name":"Craniostenosis with strabismus","classifications":[156,189]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"9585583[PMID]_10425034[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]},{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]},{"symbol":"TWIST1","name":"twist family bHLH transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9585583[PMID]","hgnc":"12428","ensembl":"ENSG00000122691","omim":"601622","loci":["7p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Europe","status":"Validated","source":"15923834[PMID]_8988166[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"15923834[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-04","source":"20301368[PMID]","terms":[{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007678","label":"Lacrimal duct stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011386","label":"Narrow internal auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009899","label":"Prominent crus of helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001837","label":"Broad toe","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:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010084","label":"Duplication of the distal phalanx of the hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002697","label":"Parietal foramina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005037","label":"Proximal radio-ulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null}]}}