{"orpha":599082,"name":"CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Snijders Blok-Campeau syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, developmental delay, macrocephaly, speech delay, and hypotonia. Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-599082/","orphanet_url":"https://www.orpha.net/en/disease/detail/599082","names":{"fr":{"name":"Syndrome de retard de développement-retard de langage-déficience intellectuelle-troubles visuels-dysmorphie faciale associé à CHD3","synonyms":["Syndrome de Snijders Blok-Campeau"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une déficience intellectuelle modérée à sévère, un retard de développement, une macrocéphalie, un retard de langage et une hypotonie. La dysmorphie faciale est à type de front haut, large et/ou proéminent, de sourcils clairsemés sur les côtés, des yeux très espacés et profondément enfoncés dans les orbites, de fentes palpébrales étroites, d'oreilles d'implantation basse, de joues pleines/saillantes, d'hypoplasie de l'étage médian du visage, de lèvre supérieure fine et de menton pointu. Parmi les autres manifestations, variables, figurent une laxité articulaire, des anomalies de la vision (hypermétropie, strabisme et déficience visuelle d'origine cérébrale), des anomalies génitales chez les hommes et des hernies inguinales, ombilicales ou hiatales."},"de":{"name":"CHD3-abhängige Sprach-/Entwicklungsverzögerung-Intelligenzminderung-Sehstörungen-Gesichtsdysmorphie-Syndrom","synonyms":["Snijders Blok-Campeau-Syndrom"],"definition":"Ein genetisch bedingtes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch eine mittelschwere bis schwere Intelligenzminderung, Entwicklungsverzögerung, Makrozephalie, Sprachverzögerung und Hypotonie gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören eine hohe, breite und/oder vorstehende Stirn, seitlich spärliche Augenbrauen, weit auseinanderstehende und tief liegende Augen, schmale Lidspalten, tief sitzende Ohren, volle/vorstehende Wangen, eine Hypoplasie des Mittelgesichts, eine dünne Oberlippe und ein spitzes Kinn. Weitere variable Manifestationen sind Gelenkhypermobilität, Sehstörungen (einschließlich Hypermetropie, Strabismus und zerebrale Sehbehinderung), Genitalanomalien bei Männern sowie Leisten-, Nabel- oder Hiatushernien."},"es":{"name":"Síndrome de retraso del desarrollo-retraso del habla-discapacidad intelectual-anomalías visuales-dismorfia facial asociado al gen CHD3","synonyms":["Síndrome de Snijders Blok-Campeau"],"definition":"Es un síndrome dismórfico con anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por discapacidad intelectual de moderada a grave, retraso del desarrollo, macrocefalia, retraso del habla e hipotonía. Los rasgos faciales dismórficos incluyen frente alta, ancha y/o prominente, cejas escasas lateralmente, ojos muy separados y hundidos, fisuras palpebrales estrechas, orejas de implantación baja, mejillas llenas/prominentes, hipoplasia del tercio medio facial, labio superior delgado y barbilla puntiaguda. Otras manifestaciones variables adicionales incluyen laxitud articular, alteraciones de la visión (como hipermetropía, estrabismo y discapacidad visual cerebral), anomalías genitales en los varones y hernia inguinal, umbilical o hiatal."},"it":{"name":"Sindrome da ritardo dello sviluppo e del linguaggio, disabilità intellettiva, anomalie della vista e dismorfismi facciali correlata a CHD3","synonyms":["Sindrome di Snijders Blok-Campeau"]},"nl":{"name":"CHD3-gerelateerd syndroom van ontwikkelingsachterstand - spraakachterstand - intellectuele achterstand - afwijkend gezichtsvermogen - faciale dysmorfie","synonyms":["Syndroom van Snijders Blok-Campeau"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door matige tot ernstige intellectuele achterstand, ontwikkelingsachterstand, macrocefalie, spraakachterstand, en hypotonie. Dysmorfe gelaatskenmerken zijn een hoog, breed en/of prominent voorhoofd, lateraal schaarse wenkbrauwen, ver uit elkaar staande en diepliggende ogen, smalle ooglidspleten, laagstaande oren, volle/prominente wangen, hypoplasie van middengezicht, dunne bovenlip, en puntige kin. Bijkomende variabele manifestaties zijn onder meer gewrichtslaxiteit, afwijkend gezichtsvermogen (waaronder hypermetropie, strabisme, en cerebraal verlies van gezichtsvermogen), genitale afwijkingen bij mannen, en hernia inguinalis, hernia umbilicalis of hiatushernia."},"pt":{"name":"Síndrome de perturbação do desenvolvimento, da linguagem e do desenvolvimento intelectual-anomalias visuais-dismorfia facial CHD3-relacionada","synonyms":["Síndrome Snijders Blok-Campeau"],"definition":"Síndrome dismórfica/de anomalias congénitas múltiplas, genética, rara, caracterizada por perturbação do desenvolvimento intelectual moderada a grave, atraso do desenvolvimento, macrocefalia, atraso da linguagem e hipotonia. As características faciais dismórficas incluem fronte alta, larga e/ou proeminente, sobrancelhas esparsas lateralmente, hipertelorismo e olhos encovados, fendas palpebrais estreitas, pavilhões auriculares baixamente implantados, bochechas cheias/proeminentes, hipoplasia da face média, lábio superior fino e queixo pontiagudo. Manifestações variáveis adicionais incluem hipermobilidade articular, anomalias da visão (incluindo hipermetropia, estrabismo e deficiência visual cerebral), anomalias genitais em homens e hérnias inguinal, umbilical ou do hiato."},"pl":{"name":"Zespół dysmorfii twarzy, zaburzeń widzenia, niepełnosprawności intelektualnej, opóźnienia mowy oraz opóźnionego rozwoju związany CHD3","synonyms":["Zespół Snijdersa Bloka i Campeau'a"]},"cs":{"name":"Syndrom zahrnující vývojové opoždění související s CHD3, opoždění řeči, mentální retardaci, abnormality zraku a obličejový dysmorfismus","synonyms":["Snijders Blok-Campeau syndrome"]},"uk":{"name":"CHD3-повязаний синдром затримки розвитку-затримки мовлення-розумової відсталості-порушення зору-дисморфізму обличчя","synonyms":["Синдром Снейдерса-Блока-Кампо"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, developmental delay, macrocephaly, speech delay, and hypotonia. Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia."},"zh":{"name":"CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome","synonyms":["Snijders Blok-Campeau syndrome"]},"tr":{"name":"CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome","synonyms":["Snijders Blok-Campeau syndrome"]}},"xrefs":[{"source":"OMIM","code":"618205","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032600","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4748701","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":"CHD3","name":"chromodomain helicase DNA binding protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30397230[PMID]","hgnc":"1918","ensembl":"ENSG00000170004","omim":"602120","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"30397230[PMID]_32483341[PMID]_34535214[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}