{"orpha":600731,"name":"Clark-Baraitser syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-600731/","orphanet_url":"https://www.orpha.net/en/disease/detail/600731","names":{"fr":{"name":"Syndrome de Clark-Baraitser","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par une déficience intellectuelle, une obésité, une macrocéphalie, des troubles du comportement (crises de colère agressive et comportement de type autistique) et un retard de développement de la parole. La dysmorphie faciale se traduit par un large front carré, des arcades sourcilières proéminentes, une pointe nasale large, de grandes oreilles, une lèvre inférieure proéminente et de légères anomalies dentaires telles que de petites incisives latérales supérieures et un espace entre les incisives centrales."},"de":{"name":"Clark-Baraitser-Syndrom","definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch Intelligenzminderung, Adipositas, Makrozephalie, Verhaltensauffälligkeiten (wie aggressive Wutanfälle und autismusähnliches Verhalten) und verzögerte Sprachentwicklung gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören eine hohe, breite Stirn, markante Augenbrauenbögen, eine breite Nasenspitze, große Ohren, eine prominente Unterlippe und geringfügige Zahnanomalien wie kleine obere seitliche Schneidezähne und eine Lücke zwischen den mittleren Schneidezähnen."},"es":{"name":"Síndrome de Clark-Baraitser","definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples, poco frecuente y de carácter genético, caracterizado por discapacidad intelectual, obesidad, macrocefalia, trastornos de conducta (como episodios de agresividad y rasgos de comportamiento autista) y retraso en el desarrollo del habla. Los rasgos faciales dismórficos incluyen frente grande y cuadrada, crestas supraorbitarias prominentes, punta nasal ancha, orejas grandes, labio inferior prominente y anomalías dentarias menores, como incisivos laterales superiores pequeños y espacio entre los incisivos superiores centrales."},"it":{"name":"Sindrome di Clark-Baraitser"},"nl":{"name":"Syndroom van Clark-Baraitser","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door intellectuele achterstand, obesitas, macrocefalie, gedragsafwijkingen (zoals agressieve woedeaanvallen en op autisme gelijkend gedrag), en vertraagde spraakontwikkeling. Dysmorfe gelaatskenmerken zijn onder meer groot en vierkant voorhoofd, prominente supraorbitale randen, brede neuspunt, grote oren, prominente onderlip, en geringe dentale anomalieën zoals kleine bovenste laterale snijtanden en ruimte tussen centrale snijtanden."},"pt":{"name":"Síndrome Clark-Baraitser","definition":"Síndrome genética dismórfica/de anomalias congénitas múltiplas, rara, caracterizada por perturbação do desenvolvimento intelectual, obesidade, macrocefalia, anomalias comportamentais (como birras com agressividade e comportamento com características de perturbação do espectro do autismo) e atraso no desenvolvimento da lingiuagem. As caraterísticas faciais dismórficas incluem fronta larga e quadrada, cristas supra-orbitais proeminentes, ponta nasal larga, pavilhões auriculares grandes, lábio inferior proeminente e anomalias dentárias minor, como incisivos laterais superiores pequenos e incisivos centrais espaçados."},"pl":{"name":"Zespół Clarka i Baraitsera","definition":"Rzadki genetycznie uwarunkowany zespół mnogich wad/zespół dysmorficzny charakteryzujący się niepełnosprawnością intelektualną, otyłością, wielkogłowiem, zaburzeniami zachowania (takimi jak agresywne napady złości i zachowania autystyczne) oraz opóźnionym rozwojem mowy. Dysmorficzne cechy twarzy obejmują duże, kwadratowe czoło, wydatne wały nadoczodołowe, szeroki czubek nosa, duże uszy, wydatną dolną wargę i drobne anomalie zębów, w tym małe górne boczne siekacze i szczelina między siekaczami centralnymi."},"cs":{"name":"Clark-Baraitserův syndrom"},"uk":{"name":"Синдром Кларка-Барайзера","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap."},"zh":{"name":"Clark-Baraitser syndrome"},"tr":{"name":"Clark-Baraitser syndrome"}},"xrefs":[{"source":"OMIM","code":"617752","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0030914","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536208","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931130","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9994","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":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}