{"orpha":513456,"name":"Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Skraban-Deardorff syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-513456/","orphanet_url":"https://www.orpha.net/en/disease/detail/513456","names":{"fr":{"name":"Syndrome de déficience intellectuelle-épilepsie-démarche anormale-dysmorphie faciale","synonyms":["Syndrome de Skraban-Deardorff"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un retard global du développement, une déficience intellectuelle, des crises d'épilepsie, des troubles de la marche et une dysmorphie crâniofaciale (y compris des traits grossiers, un pont nasal déprimé, des narines antéversées, une pointe nasale large, un maxillaire et une lèvre supérieure proéminents, une bouche large, des anomalies gingivales et des dents très espacées). Les autres manifestations rapportées sont des anomalies oculaires, des anomalies cardiaques, des problèmes gastro-intestinaux et des caractéristiques autistiques. L'imagerie cérébrale peut montrer un corps calleux mince, des anomalies de la substance blanche ou des ventricules dilatés."},"de":{"name":"Intelligenzminderung-Krampfanfälle-Ganganomalien-Gesichtsdysmorphie-Syndrom","synonyms":["Skraban-Deardorff-Syndrom"],"definition":"Ein genetisch bedingtes Dysmorphie-Syndrom mit globaler Entwicklungsverzögerung, Intelligenzminderung, Krampfanfällen, abnormalem Gang und kraniofazialen Dysmorphien (u. a. grobe Gesichtszüge, vertiefter Nasenrücken, antevertierte Nasenlöcher, breite Nasenspitze, vorstehende Oberkiefer und Oberlippe, breiter Mund, abnormes Zahnfleisch und weit auseinander stehende Zähne). Als weitere Erscheinungsformen werden Augenanomalien, Herzfehler, Magen-Darm-Probleme und autistische Verhaltensweisen berichtet. Die Bildgebung des Gehirns kann dünnes Corpus Callosum, Anomalien der weißen Substanz oder erweiterte Ventrikel zeigen."},"es":{"name":"Síndrome de discapacidad intelectual-crisis-trastornos de la marcha-dismorfia facial","synonyms":["Síndrome de Skraban-Deardorff"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por retraso global del desarrollo, discapacidad intelectual, crisis epilépticas, marcha anómala y dismorfia craneofacial (incluyendo rasgos toscos, puente nasal deprimido, narinas antevertidas, punta nasal ancha, maxilar y labio superior prominentes, boca amplia, anomalías gingivales y dientes muy espaciados). Otras manifestaciones adicionales descritas incluyen anomalías oculares, defectos cardíacos, problemas gastrointestinales y rasgos del espectro autista. Las neuroimágenes pueden mostrar adelgazamiento del cuerpo calloso, alteraciones de la sustancia blanca o ventrículos dilatados."},"it":{"name":"Sindrome disabilità intellettiva-convulsioni-anomalie dell'andatura-dismorfismi facciali","synonyms":["Sindrome di Skraban-Deardorff"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, crisi epilettiche, anomalie dell'andatura e dismorfismi craniofacciali (aspetto grossolano del viso, sella nasale infossata, narici anteverse, punta del naso larga, mascella e labbro superiore prominenti, bocca larga, anomalie delle gengive e denti iperdistanziati). I pazienti possono presentare anche anomalie oculari, cardiopatie, disturbi gastrointestinali e tratti autistici. Le neuroimmagini mostrano un assottigliamento del corpo calloso, anomalie della sostanza bianca o ventricoli dilatati."},"nl":{"name":"Intellectuele achterstand - insulten - abnormale gang - faciale dysmorfie-syndroom","synonyms":["Syndroom van Skraban-Deardorff"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, insulten, abnormale gang, en craniofaciale dysmorfie (met onder meer ruwe gelaatskenmerken, ingezakte neusbrug, anteversie van neusgaten, brede neuspunt, prominente maxilla en bovenlip, brede mond, abnormaal tandvlees, en ver uit elkaar staande tanden). Bijkomende manifestaties die werden gerapporteerd zijn ooganomalieën, hartdefecten, gastro-intestinale problemen, en autistische kenmerken. Beeldvorming van hersenen toont mogelijk dun corpus callosum, afwijkingen van witte stof, of dilatatie van ventrikels."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-convulsões-marcha anómala-dismorfia facial"},"pl":{"name":"Zespół niepełnosprawności intelektualnej-drgawek-nieprawidłowego chodu-dysmorfii twarzy","synonyms":["zespół Skraban i Deardorffa"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, záchvaty, abnormální chůzi a faciální dysmorfismus","synonyms":["Skrabanové-Deardorffův syndrom","Skraban-Deardorffův syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-судом-аномальної ходи-лицьового дисморфізму","synonyms":["Синдром Скрабана-Дірдорфа"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles."},"zh":{"name":"智力障碍-癫痫-步态异常-面容畸形综合症","synonyms":["Skraban-Deardorff综合征"]},"tr":{"name":"Zihinsel yetersizlik-nöbetler-anormal yürüyüş-yüz dismorfizm sendromu","synonyms":["Skraban-Deardorff sendromu"]}},"xrefs":[{"source":"OMIM","code":"617616","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0054636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4539927","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]}],"children":[],"genes":[{"symbol":"WDR26","name":"WD repeat domain 26","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28686853[PMID]","hgnc":"21208","ensembl":"ENSG00000162923","omim":"617424","loci":["1q42.11-q42.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"28686853[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28686853[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-24","source":"28686853[PMID]_31021590[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010803","label":"Everted upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010800","label":"Absent cupid's bow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025336","label":"Delayed ability to sit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007800","label":"Increased axial length of the globe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006897","label":"Abducens palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040115","label":"Abnormality of the Eustachian tube","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005750","label":"Lower-limb joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025186","label":"Marcus Gunn jaw winking synkinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010740","label":"Osteopathia striata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012683","label":"Pineal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008762","label":"Repetitive compulsive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012020","label":"Right aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012172","label":"Stereotypical body rocking","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}