{"orpha":2983,"name":"Difference of sex development-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Disorder of sex development-intellectual disability syndrome","Verloes-Gillerot-Fryns syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2983/","orphanet_url":"https://www.orpha.net/en/disease/detail/2983","names":{"fr":{"name":"Syndrome différence du développement sexuel-déficience intellectuelle","synonyms":["Syndrome d'anomalie du développement sexuel-déficience intellectuelle","Syndrome de Verloes-Gillerot-Fryns"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une déficience intellectuelle de degré variable, une petite taille, des anomalies génitales sévères entraînant une ambiguïté sexuelle (telles que des hypospadias périnéoscrotales pseudovaginales et une persistance de structures mülleriennes) et des anomalies oculaires (microphtalmie, colobome). Des particularités craniofaciales (traits grossiers, yeux enfoncés), spina bifida, imperforation anale et surdité de perception ont également été décrites. Aucun nouveau cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Störung der Geschlechtsentwicklung-Intelligenzminderung-Syndrom","synonyms":["DSD-Intelligenzminderung-Syndrom","Verloes-Gillerot-Fryns-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das gekennzeichnet ist durch unterschiedliche Grade der Intelligenzminderung, Kleinwuchs, schwere Genitalanomalien, die zu geschlechtlicher Uneindeutigkeit führen (wie pseudovaginale perineoskrotale Hypospadie und Persistenz der Müller-Strukturen), und Augenanomalien (Mikrophthalmie, Kolobom). Auch kraniofaziale Anomalien (grobe Gesichtszüge, tiefliegende Augen), Spina bifida, Analatresie und Innenohrschwerhörigkeit wurden beschrieben. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de desarrollo sexual diferente-discapacidad intelectual","synonyms":["Síndrome de Verloes-Gillerot-Fryns","Síndrome de trastorno del desarrollo sexual-discapacidad intelectual"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por grados variables de discapacidad intelectual, talla baja, anomalías genitales graves que provocan ambigüedad sexual (como hipospadias perineoescrotal pseudovaginal y persistencia de estructuras mullerianas) y anomalías oculares (microftalmia, coloboma). También se han descrito peculiaridades craneofaciales (rasgos toscos, ojos hundidos), espina bífida, ano imperforado e hipoacusia neurosensorial. No se han publicado descripciones en la literatura desde 1994."},"it":{"name":"Sindrome disturbo dello sviluppo sessuale-disabilità intellettiva","synonyms":["Pseudoermafroditismo - ritardo mentale","Sindrome di Verloes-Gillerot-Fryns"],"definition":"Si tratta di una sindrome rara associata ad una malattia dello sviluppo sessuale con cariotipo 46,XY, caratterizzata da disabilità intellettiva di gravità variabile, bassa statura, importanti anomalie dei genitali che esitano nell'ambiguità sessuale (ipospadia pseudovaginale perineoscrotale e persistenza delle strutture mülleriane) e anomalie oculari (microftalmia, coloboma). I pazienti possono presentare anche dismorfismi craniofacciali (aspetto grossolano del viso, occhi infossati), spina bifida, ano imperforato e sordità neurosensoriale. Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Geslachtsontwikkelingsstoornis - intellectuele achterstand-syndroom","synonyms":["Syndroom van Verloes-Gillerot-Fryns"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door variabele gradaties van intellectuele achterstand, kleine gestalte, ernstige genitale anomalieën die leiden tot seksuele ambiguïteit (zoals pseudovaginale perineoscrotale hypospadie en persisterende structuren van Müller), en ooganomalieën (microftalmie, coloboom). Craniofaciale afwijkingen (ruwe gelaatstrekken, diepliggende ogen), spina bifida, anusatresie, en sensorineuraal gehoorverlies werden eveneens beschreven. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de pseudo-hermafroditismo-perturbação do desenvolvimento intelectual","synonyms":["Pseudo-hermafroditismo-perturbação do desenvolvimento intelectual","Síndrome Verloes-Gillerot-Fryns"],"definition":"Síndrome dismórfica/anomalias congénitas múltiplas rara caracterizada por graus variáveis &#8203;&#8203;de perturbação do desenvolvimento intelectual, baixa estatura, anomalias genitais graves resultando em ambiguidade sexual (como hipospádia perineoscrotal pseudovaginal e persistência de estruturas müllerianas) e anomalias oculares (microftalmia, coloboma). Foram também descritas peculiaridades craniofaciais (características grosseiras, olhos encovados), espinha bífida, ânus imperfurado e perda auditiva neurossensorial. Não existem descrições adicionais na literatura desde 1994."},"pl":{"name":"Zaburzenie różnicowania płci - niepełnosprawność intelektualna","synonyms":["Pseudohermafrodytyzm - upośledzenie umysłowe","Zespół Verloesa, Gillerota i Frynsa"],"definition":"Rzadki zespól mnogich wad wrodzonych / zespół dysmorficzny, który charakteryzuje się niepełnosprawnością intelektualną różnego stopnia, niskim wzrostem, poważnymi wadami narządów płciowych skutkującymi niejednoznacznością płci (pseudopochwowe spodziectwo kroczowo-mosznowe i przetrwałe struktury Müllera) oraz wadami narządu wzroku (małoocze, coloboma). Opisywano również charakterystyczne cechy czaszkowo-twarzowe (grube rysy, głęboko osadzone oczy), rozszczep kręgosłupa, atrezję odbytu i niedosłuch czuciowo-nerwowy. Od 1994 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující poruchu sexuálního vývoje a mentální retardaci","synonyms":["Syndrom zahrnující pseudohermafroditismus a mentální retardaci","Verloesův-Gillerotův-Frynsův syndrom","Verloes-Gillerot-Frynsův syndrom"]},"uk":{"name":"Синдром порушення статевої диференціації - інтелектуальної недостатності","synonyms":["Синдром порушення статевого розвитку - інтелектуальної недостатності","Синдром Верлоєса-Гіллеро-Фрінса"],"definition":"A rare syndrome with 46,XY difference of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994."},"zh":{"name":"性别分化异常-智力残疾综合征","synonyms":["Verloes-Gillerot-Fryns综合征"]},"tr":{"name":"Cinsiyet gelişim bozukluğu-zihinsel yetersizlik sendromu","synonyms":["Verloes-Gillerot-Fryns sendromu"]}},"xrefs":[{"source":"OMIM","code":"600122","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q56.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536539","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931233","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4550","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":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"2098045[PMID]_8031539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2098045[PMID]_8031539[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008625","label":"Severe sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null}]}}