{"orpha":314575,"name":"Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314575/","orphanet_url":"https://www.orpha.net/en/disease/detail/314575","names":{"fr":{"name":"Syndrome de déficience intellectuelle-hypotonie-brachycéphalie-sténose du pylore-cryptorchidie","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une dysmorphie craniofaciale (brachycéphalie due à une craniosynostose, front proéminent, fentes palpébrales inclinées vers le bas, grandes oreilles d'implantation basse, pont nasal déprimé, large palais ogival, lèvre supérieure fine), trouble du neurodéveloppement avec déficience intellectuelle, hypotonie, sténose du pylore, pectus excavatum, cryptorchidie bilatérale et petite taille."},"de":{"name":"Intelligenzminderung-Hypotonie-Brachyzephalie-Pylorusstenose-Kryptorchismus-Syndrom"},"es":{"name":"Síndrome de discapacidad intelectual-hipotonía-braquicefalia-estenosis pilórica-criptorquidia","definition":"El síndrome de discapacidad intelectual - hipotonía - braquicefalia - estenosis pilórica - criptorquidia, es un síndrome dismórfico de múltiples anomalías congénitas poco frecuente, caracterizado por dismorfia craneofacial (braquicefalia por craneosinostosis, frente prominente, fisuras palpebrales descendentes, orejas grandes y de implantación baja, puente nasal deprimido, paladar ancho y arqueado, labio superior delgado), insuficiente desarrollo neurológico con discapacidad intelectual, hipotonía, estenosis pilórica, pectus excavatum, criptorquidia bilateral y talla baja."},"it":{"name":"Sindrome da disabilità intellettiva, ipotonia, brachicefalia, stenosi pilorica, criptorchidismo","definition":"La sindrome che associa la disabilità intellettiva, l'ipotonia, la brachicefalia, la stenosi pilorica e il criptorchidismo è una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi craniofacciali (brachicefalia secondaria alla craniosinostosi, fronte bombata, rime palpebrali oblique verso il basso, orecchie grandi a basso impianto, sella nasale infossata, palato ampio e ogivale, labbro superiore sottile), compromissione dello sviluppo neurologico, disabilità intellettiva, ipotonia, stenosi pilorica, pectus excavatum, criptorchidismo bilaterale e bassa statura."},"nl":{"name":"Intellectuele achterstand - hypotonie - brachycefalie - pylorusstenose - cryptorchidie-syndroom","synonyms":["Intellectuele achterstand - hypotonie - brachycefalie - pylorushypertrofie - cryptorchidie-syndroom"],"definition":"Intellectuele achterstand - hypotonie - brachycefalie - pylorusstenose - cryptorchidie-syndroom is een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door craniofaciale dysmorfie (brachycefalie als gevolg van craniosynostose, boller voorhoofd, schuin naar beneden hellende ooglidspleten, grote en laagstaande oren, ingezakte neusbrug, hoog gebogen en breed verhemelte, dunne bovenlip), verstoorde neurologische ontwikkeling met intellectuele achterstand, hypotonie, pylorusstenose, pectus excavatum, bilaterale cryptorchidie en kleine gestalte."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-hipotonia-braquicefalia-estenose pilórica-criptorquidia"},"pl":{"name":"Zespół niepełnosprawność intelektualna-hipotonia-brachycefalia-zwężenie odźwiernika-wnętrostwo","definition":"*Zespół niepełnosprawność intelektualna-hipotonia-brachycefalia-zwężenie odźwiernika-wnętrostwo jest rzadkim zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się dysmorfią twarzoczaszki (krótkogłowie wynikające z przedwczesnego zarośnięcia szwów czaszkowych, wypukłe czoło, skośnie ku dołowi ustawione szpary powiekowe, duże oraz nisko osadzone małżowiny uszne, zapadnięty grzbiet nosa, szerokie i wysokie podniebienie, cienka warga górna), upośledzonym rozwojem neurologicznym z niepełnosprawnością intelektualną, hipotonią, zwężeniem odźwiernika, klatką piersiową wydrążoną, wnętrostwem obustronnym i niskim wzrostem."},"cs":{"name":"Syndrom zahrnující mentální retardaci, hypotonii, brachycefalii, pylorostenózu a kryptorchismus"},"uk":{"name":"Синдром інтелектуальної недостатності-гіпотонії-брахіцефалії-пілоростенозу-крипторхізму","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature."},"zh":{"name":"智力障碍-肌张力低下-短头畸形-幽门狭窄-隐睾综合征","definition":"智力残疾-肌张力过低-幽门狭窄-隐睾综合征是一种罕见的多发性先天性畸形/畸形综合征，其特征是颅面畸形（颅缝早闭造成的短头畸形、前额突出、睑裂下斜、耳大而低、鼻梁凹陷，腭宽而高拱，上唇薄），神经发育受损，伴有智力障碍，张力减退，幽门狭窄，漏斗胸，双侧隐睾症和身材矮小。"},"tr":{"name":"Zihinsel yetersizlik-hipotoni-brakisefali-pilorik stenoz-kriptorşidi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017805","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751073","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22611637[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":"2019-10-11","source":"22611637[PMID]","terms":[{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null}]}}