{"orpha":87,"name":"Apert syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ACS1","Acrocephalosyndactyly type 1"],"definition":"A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-87/","orphanet_url":"https://www.orpha.net/en/disease/detail/87","names":{"fr":{"name":"Syndrome d'Apert","synonyms":["ACS1","Acro-céphalo-syndactylie type 1"],"definition":"Forme fréquente d'acrocéphalosyndactylie, un groupe de malformations congénitales héréditaires caractérisées par une craniosynostose, une hypoplasie de l'étage moyen de la face et des anomalies des doigts et des orteils et/ou une syndactylie."},"de":{"name":"Apert-Syndrom","synonyms":["ACPS I","Akrozephalosyndaktylie Typ 1"],"definition":"Eine häufige Form der Akrozephalosyndaktylie, einer Gruppe von angeborenen Fehlbildungsstörungen, die durch Kraniosynostose, Mittelgesichtshypoplasie und Finger- und Zehenanomalien und/oder Syndaktylie gekennzeichnet sind."},"es":{"name":"Síndrome de Apert","synonyms":["ACS1","Acrocefalosindactilia tipo 1"],"definition":"Es una forma frecuente de acrocefalosindactilia, un grupo de trastornos malformativos hereditarios congénitos, caracterizado por craneosinostosis, hipoplasia del tercio medio facial y anomalías de dedos de las manos y pies con/sin sindactilia."},"it":{"name":"Sindrome di Apert","synonyms":["ACS 1","Acrocefalosindattilia, tipo 1"],"definition":"La sindrome di Apert (AS) è una forma di acrocefalosindattilia (si veda questo termine), un gruppo di disturbi da malformazioni congenite ereditarie, caratterizzato da craniosinostosi (si veda questo termine), ipoplasia mediofacciale, anomalie delle dita delle mani e dei piedi, e/o sindattilia."},"nl":{"name":"Syndroom van Apert","synonyms":["ACS 1","Acrocefalosyndactylie type 1"],"definition":"Een veel voorkomende vorm van acrocefalosyndactylie, een groep van overgeërfde, congenitale, malformatieve aandoeningen, gekarakteriseerd door craniosynostose, hypoplasie van middengezicht, en vinger- en teenafwijkingen en/of syndactylie."},"pt":{"name":"Síndrome Apert","synonyms":["ACS 1","Acrocefalossindactilia tipo 1"]},"pl":{"name":"Zespół Aperta","synonyms":["ACS 1","Akrocefalosyndaktylia typu 1"],"definition":"Zespół Aperta (AS) jest częstą postacią akrocefalosyndaktylii (zob. to hasło), dziedzicznych zaburzeń wrodzonych wad rozwojowych, charakteryzujących się kraniosynostozą, hipoplazją środkowej części twarzy oraz anomaliami i(lub) syndaktylią palców u rąk i nóg."},"cs":{"name":"Apertův syndrom","synonyms":["ACS1","Akrocefalosyndaktylie, typ 1"]},"uk":{"name":"Синдром Аперта","synonyms":["Акроцефалосиндактилія типу 1","ACS1"],"definition":"A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly."},"zh":{"name":"Apert综合征","synonyms":["尖头并指畸形1型"]},"tr":{"name":"Apert sendromu","synonyms":["ACS1","Akrosefalosindaktili tip 1"]}},"xrefs":[{"source":"OMIM","code":"101200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.G2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1962779847"},{"source":"MONDO","code":"0007041","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001193","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5833","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98650,"name":"Craniofacial anomaly with cataract","classifications":[156,189]},{"orpha":98684,"name":"Craniostenosis with strabismus","classifications":[156,189]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":138055,"name":"Pierre Robin syndrome associated with bone disease","classifications":[147,156,200,209]},{"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":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301628[PMID]_23593218[PMID]_15282208[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Spain","status":"Validated","source":"10666902[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Spain","status":"Validated","source":"10666902[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"United States","status":"Validated","source":"9375719[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"United States","status":"Validated","source":"9375719[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.47,"area":"Canada","status":"Validated","source":"1303629[PMID]_1602157[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.47,"area":"Canada","status":"Validated","source":"1303629[PMID]_1602157[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-23","source":"30085535[PMID]_31145570[PMID]","terms":[{"hpo":"HP:0004487","label":"Acrobrachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000244","label":"Brachyturricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","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:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004635","label":"Cervical vertebrae fusion (C5/C6)","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011380","label":"Morphological abnormality of the semicircular canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012803","label":"Anisometropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002676","label":"Cloverleaf skull","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}