{"orpha":1495,"name":"Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Da Silva syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1495/","orphanet_url":"https://www.orpha.net/en/disease/detail/1495","names":{"fr":{"name":"Syndrome de déficience intellectuelle-hypoplasie du corps calleux-appendice préauriculaire","synonyms":["Syndrome de Da Silva"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par un retard de croissance et un retard psychomoteur, une déficience intellectuelle sévère, une microcéphalie et une hypoplasie du corps calleux. Parmi les autres manifestations rapportées figurent une hypertonie musculaire, des convulsions, des anomalies cardiaques, une bronchopneumonie récurrente, une camptodactylie, des appendices préauriculaires et une dysmorphie faciale (large front, hypertélorisme, pont nasal plat, narines antéversées et oreilles proéminentes), entre autres."},"de":{"name":"Intelligenzminderung-Corpus callosum-Hypoplasie-präaurikuläre Anhängsel-Syndrom","synonyms":["Da-Silva-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch psychomotorische und Wachstumsverzögerung, schwere Intelligenzminderung, Mikrozephalie und hypoplastisches Corpus Callosum gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören u. a. ein erhöhter Muskeltonus, Krampfanfälle, Herzanomalien, rezidivierende Bronchopneumonien, Kamptodaktylie, präaurikuläre Hautanhängsel und Gesichtsdysmorphien (z. B. breite Stirn, Hypertelorismus, flacher Nasenrücken, antevertierte Nasenlöcher und abstehende Ohren)."},"es":{"name":"Síndrome de discapacidad intelectual-hipoplasia del cuerpo callosoco-apéndice preauricular","synonyms":["Síndrome de Da Silva"],"definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de base genética y poco frecuente, caracterizado por retraso psicomotor y del crecimiento, grave discapacidad intelectual, microcefalia e hipoplasia del cuerpo calloso. Otras manifestaciones descritas son aumento del tono muscular, crisis epilépticas, anomalías cardíacas, bronconeumonía recurrente, camptodactilia, apéndices preauriculares y rasgos faciales dismórficos (como frente ancha, hipertelorismo, puente nasal plano, narinas antevertidas y orejas prominentes), entre otras."},"it":{"name":"Sindrome da disabilità intellettiva-ipoplasia del corpo calloso-appendice preauricolare","synonyms":["Sindrome di Da Silva"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo psicomotorio e della crescita, disabilità intellettiva grave, microcefalia e ipoplasia del corpo calloso. I pazienti possono presentare anche un aumento del tono muscolare, crisi epilettiche, cardiopatie, broncopolmonite ricorrente, camptodattilia, appendice cutanea preauricolare e dismorfismi facciali (fronte ampia, ipertelorismo, sella nasale piatta, narici anteverse e orecchie prominenti)."},"nl":{"name":"Intellectuele achterstand - hypoplastisch corpus callosum - preauriculair aanhangsel-syndroom","synonyms":["Syndroom van Da Silva"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door psychomotorische achterstand, groeiachterstand, ernstige intellectuele achterstand, microcefalie, en hypoplastisch corpus callosum. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer verhoogde spiertonus, insulten, hartanomalieën, recidiverende bronchopneumonie, camptodactylie, pre-auriculair aanhangsel, en dysmorfe gelaatskenmerken (zoals breed voorhoofd, hypertelorisme, platte neusbrug, anteversie van de neusgaten, en prominente oren)."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-hipoplasia do corpo caloso-apêndice pré-auricular","synonyms":["Síndrome Da Silva"]},"pl":{"name":"Niepełnosprawność intelektualna - niedorozwój ciała modzelowatego - wyrostek przeduszny","synonyms":["Zespół Da Silva"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, hypoplázii corpus callosum a preaurikulární vyrůstek","synonyms":["Da Silvaův syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності-гіпопластичного мозолистого тіла-преаурикулярного виросту","synonyms":["Синдром Да Сілва"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others."},"zh":{"name":"智力障碍-胼胝体发育不良-耳前赘综合征","synonyms":["Da Silva综合征"]},"tr":{"name":"Zihinsel yetersizlik-korpus kallosum hipoplazisi-kulak önü deri katlantısı sendromu","synonyms":["Da Silva sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302530","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12487","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":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3400727[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3400727[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}