{"orpha":3079,"name":"Intellectual disability, Buenos-Aires type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mutchinick syndrome"],"definition":"Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3079/","orphanet_url":"https://www.orpha.net/en/disease/detail/3079","names":{"fr":{"name":"Déficience intellectuelle type Buenos-Aires","synonyms":["Syndrome de Mutchinick"],"definition":"La déficience intellectuelle type Buenos-Aires est un syndrome rare de déficit intellectuel caractérisé par un retard de croissance, une microcéphalie, une dysmorphie faciale (incluant un front étroit, des sourcils broussailleux, un hypertélorisme, de fentes palpébrales étroites obliques en bas et en dehors, une blépharoptose, des oreilles malformées, basses implantées, un nez large et droit, une lèvre supérieure fine, une large bouche et un vermillon en forme de tente), un retard de développement, un déficit intellectuel, un trouble de la parole et de multiples malformations d'organes (dont une communication interventriculaire, un mégalo-urètre et un pelvis rénal dilaté). Les manifestations additionnelles incluent des lésions neuro-cutanées (incluant une hyperkératose palmoplantaire), une hydrocéphalie interne, ainsi qu'une syndactylie bilatérale partielle du tissu mou impliquant le deuxième et le troisième orteil."},"de":{"name":"Intelligenzminderung Typ Buenos-Aires","synonyms":["Mutchinick-Syndrom"],"definition":"Ein seltenes Syndrom der Intelligenzminderung, das gekennzeichnet ist durch Wachstumsverzögerung, Mikrozephalie, charakteristische Gesichtszüge (u. a. schmale Stirn, buschige Augenbrauen, Hypertelorismus, kleine, nach unten geneigte Lidspalten mit Blepharoptose, fehlgebildete und tief angesetzte Ohren, breite gerade Nase, dünne Oberlippe und ein breiter, verschlossener Mund), Entwicklungsverzögerung, Intelligenzminderung, Sprachstörung und multiple Organfehlbildungen (z. z. B. Ventrikelseptumdefekt, Megaloureter, erweitertes Nierenbecken). Als weitere Manifestationen wurden neurokutane Läsionen (einschließlich palmoplantarer Hyperkeratose), interner Hydrozephalus und beidseitige partielle Weichteilsyndaktylie der zweiten und dritten Zehe berichtet."},"es":{"name":"Discapacidad intelectual tipo Buenos Aires","synonyms":["Síndrome de Mutchinick"],"definition":"La discapacidad intelectual tipo Buenos Aires es un síndrome poco frecuente de discapacidad intelectual caracterizado por retraso del crecimiento, microcefalia, rasgos faciales característicos (incluyendo frente estrecha, cejas pobladas, hipertelorismo, fisuras palpebrales pequeñas inclinadas hacia abajo con blefaroptosis, orejas malformadas y de implantación baja, nariz ancha y recta, labio superior delgado y una boca amplia en forma de carpa), retraso del desarrollo, discapacidad intelectual, trastorno del lenguaje y malformaciones multiorgánicas (p.ej. defecto septal ventricular, megalouréter, pelvis renal dilatada). Otras manifestaciones adicionales descritas incluyen lesiones neurocutáneas (incluyendo hiperqueratosis palmoplantar), hidrocefalia interna y sindactilia de tejidos blandos bilateral parcial del segundo y tercer dedo del pie."},"it":{"name":"Disabilità intellettiva, tipo Buenos Aires","synonyms":["Sindrome di Mutchinick"],"definition":"La disabilità intellettiva, tipo Buenos-Aires è una malattia rara da disabilità intellettiva, caratterizzata da ritardo della crescita, microcefalia, dismorfismi caratteristici (fronte stretta, sopracciglia folte, ipertelorismo, rime palpebrali piccole e rivolte verso il basso con blefaroptosi, orecchie malformate e a bassa attaccatura, naso diritto e tozzo, labbro superiore sottile, bocca larga ''a tenda''), ritardo dello sviluppo, disabilità intellettiva, disturbi del linguaggio e malformazioni a carico di diversi organi (difetti del setto interventricolare, megalouretere, dilatazione della pelvi renale). Possono essere presenti anche lesioni neurocutanee (come l'ipercheratosi palmo-plantare), idrocefalo interno e sindattilia parziale bilaterale dei tessuti molli del secondo e terzo dito del piede."},"nl":{"name":"Intellectuele achterstand, Buenos Aires-type","synonyms":["Syndroom van Mutchinick"],"definition":"Intellectuele achterstand, Buenos Aires-type is een zeldzaam syndroom met intellectuele achterstand dat gekarakteriseerd wordt door groeiachterstand, microcefalie, typische gelaatskenmerken (waaronder een smal voorhoofd, borstelige wenkbrauwen, hypertelorisme, neerwaartse ooglidspleten met blefaroptose, misvormde en laagstaande oren, brede rechte neus, dunne bovenlip, en een brede tentvormige mond), ontwikkelingsachterstand, intellectuele achterstand, spraakstoornis, en meervoudige orgaanmalformaties (e.g. ventrikelseptumdefect, megalo-ureter, gedilateerd nierbekken). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer neurocutane letsels (waaronder palmoplantaire hyperkeratose), interne hydrocefalus, en bilaterale partiële syndactylie van zacht weefsel aan de tweede en derde teen."},"pt":{"name":"Perturbação do desenvolvimento intelectual, tipo Buenos Aires","synonyms":["Síndrome Mutchinick"]},"pl":{"name":"Niepełnosprawność intelektualna typu Buenos-Aires","synonyms":["Zespół Mutchinicka"]},"cs":{"name":"Mentální retardace, typ Buenos-Aires","synonyms":["Mutchinickův syndrom"]},"uk":{"name":"Інтелектуальна недостатність, тип Буенос-Айреса","synonyms":["Синдром Мутчініка"],"definition":"Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe."},"zh":{"name":"智力障碍，Buenos-Aires亚型","synonyms":["Mutchinick综合征"]},"tr":{"name":"Zihinsel yetersizlik, Buenos-Aires tipi","synonyms":["Mutchinick sendromu"]}},"xrefs":[{"source":"OMIM","code":"249630","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009584","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796080","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3485","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089183","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":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"5025484[PMID]_10190479[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5025484[PMID]_10190479[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008425","label":"Cuboid-shaped thoracolumbar vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008407","label":"Hyperconvex thumb nails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null}]}}