{"orpha":2432,"name":"Macrosomia-microphthalmia-cleft palate syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Teebi-Al Saleh-Hassoon syndrome"],"definition":"Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2432/","orphanet_url":"https://www.orpha.net/en/disease/detail/2432","names":{"fr":{"name":"Syndrome de macrosomie-microphtalmie-fente palatine","synonyms":["Syndrome de Teebi-Al Saleh-Hassoon"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une macrosomie précoce, une microphtalmie bilatérale sévère et un abdomen protubérant avec hépatomégalie. Parmi les autres caractéristiques rapportées figurent une brachycéphalie, de grandes fontanelles, un front proéminent, un nez retroussé et une fente palatine médiane. Des crises d'apnée cyanosée et des infections généralisées entraînent le décès dans les 6 premiers mois de vie. Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Makrosomie - Mikrophthalmie - Gaumenspalte","synonyms":["Teebi-al Saleh-Hassoon-Syndrom"]},"es":{"name":"Síndrome de macrosomía-microftalmia-paladar hendido","synonyms":["Síndrome de Teebi-Al Saleh-Hassoon"],"definition":"El síndrome de microsomía - microftalmia - paladar hendido, es un síndrome dismórfico por múltiples anomalías congénitas, genético y poco frecuente, caracterizado por macrosomía precoz, microftalmia bilateral grave y abdomen protuberante con hepatomegalia. Otras características adicionales descritas incluyen braquicefalia, fontanelas grandes, frente prominente, nariz respingona y hendidura del paladar medio. Los episodios de apnea cianótica y la infección generalizada causan la muerte en los primeros seis meses de vida. No ha habido más casos descritos en la literatura desde 1989."},"it":{"name":"Sindrome da macrosomia, microftalmia e palatoschisi","synonyms":["Sindrome di Teebi-Al Saleh-Hassoon"],"definition":"La sindrome che associa la macrosomia, la microftalmia e la palatoschisi è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da macrosomia, microftalmia bilaterale grave e addome prominente con epatomegalia. Altri segni clinici sono la brachicefalia, la fontanella ampia, la fronte prominente, il naso rivolto verso l'alto e la palatoschisi mediana. Gli episodi apnoici cianotici e la difficoltà nel controllo delle infezioni causano la morte nei primi sei mesi di vita. Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Macrosomie - microftalmie - gespleten verhemelte-syndroom","synonyms":["Syndroom van Teebi-Al Saleh-Hassoon"],"definition":"Macrosomie - microftalmie - gespleten verhemelte-syndroom is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door vroege macrosomie, bilaterale ernstige microftalmie en een uitpuilend abdomen met hepatomegalie. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer brachycefalie, grote fontanellen, prominent voorhoofd, wipneus, en mediaan gespleten verhemelte. Cyanotische apneutische periodes en overweldigende infectie leiden tot overlijden binnen de eerste 6 levensmaanden. Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de macrossomia-microftalmia-fenda palatina"},"pl":{"name":"Makrosomia - małoocze - rozszczep podniebienia","synonyms":["Zespół Teebi, Al Saleh i Hassoon"],"definition":"*Zespół makrosomia - małoocze - rozszczep podniebienia to rzadki, genetycznie uwarunkowany zespół mnogich wad wrodzonych/zespół dysmorficzny, który charakteryzuje się makrosomią o wczesnym początku, obustronnym ciężkim małooczem i wystającym brzuchem z powiększeniem wątroby. Dodatkowo opisywano brachycefalię, duże ciemiączka, wydatne czoło, zadarty nos i rozszczep podniebienia. Napady bezdechu z sinicą i uogólniające się infekcje prowadzą do śmierci w ciągu pierwszych 6 miesięcy życia. Od 1989 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující makrosomii, mikroftalmii a rozštěp patra","synonyms":["Teebiho-Al Salehův-Hassoonův syndrom","Teebi-Al Saleh-Hassoonův syndrom"]},"uk":{"name":"Синдром макросомії-мікрофтальмії-розщілини піднебіння","synonyms":["Синдром Тібі-аль-Салех-Хассун"],"definition":"Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989."},"zh":{"name":"巨大儿-小眼-腭裂综合征","synonyms":["Teebi-Al Saleh-Hassoon综合征"]},"tr":{"name":"Makrozomi-mikroftalmi-yarık damak sendromu","synonyms":["Teebi-Al Saleh-Hassoon sendromu"]}},"xrefs":[{"source":"OMIM","code":"248110","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009547","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537830","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721892","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"177","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"2791331[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2791331[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null}]}}