{"orpha":329224,"name":"Schuurs-Hoeijmakers syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PACS1-related NDD","PACS1-related neurodevelopmental disorder","PACS1-related syndrome"],"definition":"A rare genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability, motor and speech delay, and characteristic craniofacial features. Other features might include hypotonia, seizures, feeding difficulties, autism spectrum disorder, and sleep disturbances. Congenital anomalies, including cardiac, ocular, cerebral, and genitourinary defects, may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329224/","orphanet_url":"https://www.orpha.net/en/disease/detail/329224","names":{"fr":{"name":"Syndrome de Schuurs-Hoeijmakers","synonyms":["Trouble du neurodéveloppement associé à PACS1","Syndrome lié à PACS1"],"definition":"Maladie génétique rare du neurodéveloppemental caractérisée par une déficience intellectuelle légère à modérée, un retard moteur et de la parole, ainsi qu'une dysmorphie craniofaciale caractéristique. D'autres symptômes peuvent inclure une hypotonie, des crises épileptiques, des difficultés à s'alimenter, un trouble du spectre de l'autisme et des troubles du sommeil. Par ailleurs, des anomalies congénitales, notamment des malformations cardiaques, oculaires, cérébrales et génito-urinaires peuvent s'observer."},"de":{"name":"Schuurs-Hoeijmakers-Syndrom","synonyms":["PACS1-NDD","PACS1-assoziierte neurologische Entwicklungsstörung"],"definition":"Eine seltene syndromale Form der Intelligenzminderung, die durch eine leichte bis mittelschwere Intelligenzminderung und Entwicklungsverzögerung gekennzeichnet ist (wobei die Sprachentwicklung stärker betroffen ist). Eine Assoziation mit infantiler Hypotonie, Krampfanfällen, Kryptorchismus bei Männern und kongenitalen Anomalien, einschließlich kardialer, zerebraler oder okulärer Defekte, kann beobachtet werden."},"es":{"name":"Síndrome de Schuurs-Hoeijmakers","synonyms":["TND asociado al gen PACS1","Trastorno del neurodesarrollo asociado al gen PACS1","Síndrome asociado al gen PACS1"],"definition":"Es una discapacidad intelectual sindrómica de origen genético poco frecuente caracterizada por discapacidad intelectual de leve a moderada y retraso del desarrollo (afectando con mayor gravedad al habla y al lenguaje). Se ha descrito asociación con hipotonía infantil, crisis epilépticas, criptorquidia en varones y anomalías congénitas, incluyendo defectos cardíacos, cerebrales u oculares."},"it":{"name":"Sindrome Schuurs-Hoeijmakers","synonyms":["Malattia del neurosviluppo correlata a PACS1","NDD correlato a PACS1","Sindrome correlata a PACS1"],"definition":"La sindrome che associa la disabilità intellettiva, i dismorfismi craniofacciali e il criptorchidismo è una malattia genetica rara da disabilità intellettiva, caratterizzata da disabilità intellettiva lieve-moderata, ritardo dello sviluppo (in particolare del linguaggio) e dismorfismi facciali (sopracciglia folte ed arcuate, ipertelorismo, rime palpebrali oblique verso il basso, ciglia lunghe, ptosi, orecchie a disegno semplice, a basso impianto, punta del naso globosa, filtro piatto, bocca grande con angoli rivolti verso il basso e labbro superiore sottile, e diastema dentale. Può associarsi ad ipotonia neonatale, crisi epilettiche, criptorchidismo (nei maschi) ed anomalie congenite (cardiopatie, anomalie cerebrali ed oculari)."},"nl":{"name":"Syndroom van Schuurs-Hoeijmakers","synonyms":["PACS1-gerelateerde NDD","PACS1-gerelateerde neurologische ontwikkelingsstoornis","PACS1-gerelateerd syndroom"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekenmerkt door milde tot matige intellectuele achterstand, en ontwikkelingsachterstand (waarbij spraak- en taalontwikkeling ernstiger getroffen zijn). Er kan associatie waargenomen worden met infantiele hypotonie, insulten, cryptorchidie bij mannen en congenitale afwijkingen, waaronder cardiale, cerebrale of oculaire defecten."},"pt":{"name":"Síndrome Schuurs-Hoeijmakers","synonyms":["Doença do neurodesenvolvimento PACS1","PACS1-NDD","Síndrome PACS1-relacionada"],"definition":"Perturbação do desenvolvimento intelectual sindrómica rara genética caracterizada por perturbação do desenvolvimento intelectual leve a moderada, atraso no desenvolvimento (com desenvolvimento da fala e da linguagem mais afetados). Pode ser observada associação com hipotonia infantil, convulsões, criptorquidia em individuos masculinos e anomalias congénitas, incluindo defeitos cardíacos, cerebrais ou oculares."},"pl":{"name":"Niepełnosprawność intelektualna - dysmorfia czaszkowo-twarzowa - wnętrostwo","synonyms":["Zespół niepełnosprawności intelektualnej, dysmorfii czaszkowo-twarzowej oraz wnętrostwa","Zespół Schuursa-Hoeijmakersa"],"definition":"*Niepełnosprawność intelektualna - dysmorfia czaszkowo-twarzowa - wnętrostwo jest rzadkim, genetycznie uwarunkowanym espołem z niepełnosprawnością intelektualną, który charakteryzuje się lekką lub umiarkowaną niepełnosprawnością intelektualną, opóźnieniem rozwoju (z poważnym zaburzeniem rozwoju mowy i umiejętności językowych) i dysmorfią twarzy, która zazwyczaj obejmuje pełne, łukowate brwi, hiperteloryzm, skośnie ku dołowi ustawione szpary powiekowe, długie rzęsy, opadanie powiek, nisko osadzone, dysplastyczne uszy, bulwiasty czubek nosa, płaską rynienkę podnosową, szerokie usta z skierowanymi do dołu kącikami i cienką górną wargą oraz diastemę zębów. Może towarzyszyć hipotonia w okresie niemowlęcym, napady padaczkowe, wnętrostwo u chłopców oraz wady wrodzone serca, mózgu lub oczu."},"cs":{"name":"Syndrom zahrnující mentální retardaci, kraniofaciální dysmorfismus a kryptorchismus","synonyms":["PACS1-related NDD","PACS1-related neurodevelopmental disorder","PACS1-related syndrome"]},"uk":{"name":"Синдром Шурса-Хоймейкерса","synonyms":["PACS1-NDD","PACS1 - порушення нейророзвитку","Синдром, повязаний з PACS1"],"definition":"A rare genetic syndromic intellectual disability characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected). Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed."},"zh":{"name":"智力障碍-颅面畸形-隐睾综合征","synonyms":["PACS1-related syndrome"],"definition":"智力障碍-颅面部畸形-隐睾综合征是一种罕见的遗传性综合征性智力障碍综合征，其特征是轻度至中度智力障碍、发育迟缓（言语和语言发育受影响更严重）和面部畸形，通常包括眉毛丰满高拱、眼距过宽、睑裂下斜、睫毛长、上睑下垂、耳朵简单低垂、鼻尖圆球状、人中扁平、嘴宽而下弯、上唇和牙齿间隙薄。可观察到婴儿低张力、癫痫、男性隐睾症和先天性异常（包括心脏、大脑或眼部缺陷）。"},"tr":{"name":"Zihinsel yetersizlik-kraniyofasiyal dismorfizm-kriptorşidi sendromu","synonyms":["PACS1-related syndrome"]}},"xrefs":[{"source":"OMIM","code":"615009","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554343","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13043","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089146","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":"PACS1","name":"phosphofurin acidic cluster sorting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23159249[PMID]","hgnc":"30032","ensembl":"ENSG00000175115","omim":"607492","loci":["11q13.1-q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":110.0,"area":"Worldwide","status":"Validated","source":"23159249[PMID]_41882293[PMID]"},{"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":"2019-10-18","source":"23159249[PMID)_30113927[PMID]_26842493[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012523","label":"Oral aversion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002389","label":"Cavum septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005421","label":"Decreased circulating complement C3 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000699","label":"Diastema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010821","label":"Focal emotional seizure with laughing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002951","label":"Partial absence of cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}