{"orpha":66629,"name":"Goldberg-Shprintzen megacolon syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["GOSHS","Megacolon-microcephaly syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66629/","orphanet_url":"https://www.orpha.net/en/disease/detail/66629","names":{"fr":{"name":"Syndrome de Goldberg-Shprintzen avec mégacôlon","synonyms":["GOSHS","Syndrome de mégacôlon-microcéphalie"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une maladie de Hirschsprung, une dysmorphie faciale (front fuyant, sourcils très arqués, cils longs, télécanthus/hypertélorisme, ptosis, oreilles proéminentes, lobes de l'oreille épais, pont nasal proéminent, philtrum épais, vermillon de la lèvre supérieure éversé et menton pointu), un retard global de développement, une déficience intellectuelle et des anomalies cérébrales inconstantes (polymicrogyrie focale ou généralisée, ou hypoplasie du corps calleux)."},"de":{"name":"Goldberg-Shprintzen-Megakolon-Syndrom","synonyms":["GOSHS","Megakolon - Mikrozephalie"],"definition":"Ein seltenes Dysmorphie-Syndrom mit multiplen kongenitalen Anomalien. Es ist gekennzeichnet durch Morbus Hirschsprung, Gesichtsdysmorphien (fliehende Stirn, hochgewölbte Augenbrauen, lange Wimpern, Telekanthus/Hypertelorismus, Ptosis, abstehende Ohren, dicke Ohrläppchen, abstehende Ohren, dicke Ohrläppchen, dickes Philtrum, evertierte Unterlippe und spitzes Kinn), globale Entwicklungsverzögerung, Intelligenzminderung und variable zerebrale Anomalien (fokale oder generalisierte Polymikrogyrien oder hypoplastisches Corpus callosum)."},"es":{"name":"Síndrome de megacolon de Goldberg-Shprintzen","synonyms":["GOSHS","Megacolon-microcefalia"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples poco frecuente caracterizado por la enfermedad de Hirschsprung, dismorfia facial (frente inclinada, cejas altas arqueadas, pestañas largas, telecanto/ hipertelorismo, ptosis, orejas prominentes, lóbulos de las orejas gruesos, puente nasal prominente, filtrum grueso, bermellón del labio inferior evertido y mentón puntiagudo), retraso global del desarrollo, discapacidad intelectual y anomalías cerebrales variables (polimicrogiria focal o generalizada, o cuerpo calloso hipoplásico)."},"it":{"name":"Sindrome da megacolon di Goldberg-Shprintzen","synonyms":["GOSHS","Megacolon - microcefalia"],"definition":"È una sindrome rara da anomalie/dismorfismi congeniti multipli, caratterizzata dalla malattia di Hirschsprung associata a dismorfismi facciali (fronte spiovente, sopracciglia arcuate, ciglia lunghe, telecanto/ipertelorismo, ptosi, orecchie prominenti, lobi delle orecchie ispessiti, sella nasale prominente, filtro lungo, porzione mucosa del labbro inferiore anteversa e mento appuntito), ritardo dello sviluppo globale, disabilità intellettiva ed anomalie cerebrali di gravità variabile (polimicrogiria focale o generalizzata, ipoplasia del corpo calloso)."},"nl":{"name":"Megacolonsyndroom van Goldberg-Shprintzen","synonyms":["GOSHS","Megacolon - microcefalie-syndroom"],"definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom gekarakteriseerd door ziekte van Hirschsprung, faciale dysmorfie (hellend voorhoofd, hoog gebogen wenkbrauwen, lange wimpers, telecanthus/hypertelorisme, ptose, prominente oren, dikke oorlellen, prominente neusbrug, dik filtrum, eversie van het vermiljoen van de onderlip en puntige kin), algehele ontwikkelingsachterstand, intellectuele achterstand en variabele cerebrale afwijkingen (focale of gegeneraliseerde polymicrogyrie, of hypoplastisch corpus callosum)."},"pt":{"name":"Síndrome de megalocólon de Goldberg-Shprintzen","synonyms":["GOSHS","Megalocólon - microcefalia"]},"pl":{"name":"Zespół okrężnicy olbrzymiej Goldberga i Shprintzena","synonyms":["GOSHS","Okrężnica olbrzymia - mikrocefalia"]},"cs":{"name":"Shprintzenův-Goldbergové syndrom","synonyms":["GOSHS","Syndrom zahrnující megakolon a mikrocefalii","Goldbergové-Shprintzenův megakolonový syndrom","Shprintzen-Goldbergové syndrom","Goldberg-Shprintzenův megakolonový syndrom"]},"uk":{"name":"Синдром мегаколон Гольдберга-Шпринцена","synonyms":["GOSHS","Синдром мегаколон-мікроцефалії"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum)."},"zh":{"name":"Goldberg-Shprintzen巨结肠综合征","synonyms":["巨结肠-小头综合征"]},"tr":{"name":"Goldberg-Shprintzen megakolon sendromu","synonyms":["GOSHS","Megakolon-mikrosefali sendromu"]}},"xrefs":[{"source":"OMIM","code":"609460","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1750921468"},{"source":"MONDO","code":"0012280","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537279","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836123","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9849","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]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]},{"orpha":557866,"name":"Rare disorder with Hirschsprung disease as a major feature","classifications":[147,156,182,233]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"KIFBP","name":"kinesin family binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15883926[PMID]_23427148[PMID]","hgnc":"23419","ensembl":"ENSG00000198954","omim":"609367","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_28277559[PMID]_23427148[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12687674[PMID]","terms":[{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}