{"orpha":210144,"name":"Lethal polymalformative syndrome, Boissel type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210144/","orphanet_url":"https://www.orpha.net/en/disease/detail/210144","names":{"fr":{"name":"Syndrome polymalformatif létal type Boissel","definition":"Anomalies congénitales multiples/syndrome dysmorphique létal rare d'origine génétique caractérisé par un retard de croissance staturo-pondérale, un retard de développement et une microcéphalie post-natale sévères, des anomalies cardiaques congénitales fréquentes et une dysmorphie faciale caractéristique (à type de visage grossier, de narines antéversées, de vermillon fin, de crête alvéolaire proéminente et de rétro- ou de micrognatie). Parmi les autres caractéristiques courantes figurent des anomalies neurologiques (hyper-/hypotonie, surdité neurosensorielle, hydrocéphalie, atrophie cérébrale, crises convulsives), ainsi qu'une brachydactylie, un cutis marmorata et des anomalies génitales."},"de":{"name":"Letales polymalformatives Syndrom Typ Boissel"},"es":{"name":"Síndrome polimalformativo letal tipo Boissel","definition":"El síndrome polimalformativo letal tipo Boissel, es un síndrome dismórfico por anomalías congénitas múltiples, letal, genético y poco frecuente, caracterizado por fallo de medro, retraso grave del desarrollo, microcefalia postnatal grave, frecuentes defectos cardíacos congénitos y dismorfia facial característica (que incluye cara tosca con fosas nasales antevertidas, bermellón delgado, cresta alveolar prominente y retro- o micrognatia). Otras características adicionales incluyen anomalías neurológicas (hiper- / hipotonía, sordera neurosensorial, hidrocefalia, atrofia cerebral, convulsiones), así como braquidactilia, cutis marmorata y anomalías genitales."},"it":{"name":"Sindrome polimalformativa letale, tipo Boissel","definition":"La sindrome polimalformativa letale tipo Boissel è una malattia genetica rara e letale da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo della crescita, grave ritardo dello sviluppo, marcata microcefalia postnatale, frequenti cardiopatie congenite e dismorfismi facciali caratteristici (aspetto grossolano del viso con narici anteverse, porzione mucosa delle labbra sottile, cresta alveolare prominente e retro/micrognazia). Altri segni clinici comuni sono le anomalie neurologiche (iper/ipotonia, sordità neurosensoriale, idrocefalo, atrofia cerebrale, crisi epilettiche), la brachidattilia, la cutis marmorata e le anomalie dei genitali."},"nl":{"name":"Letaal polymalformatief syndroom, Boissel-type","definition":"Letaal polymalformatief syndroom, Boissel-type is een zeldzaam, genetisch, letaal meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door groeiachterstand, ernstige ontwikkelingsachterstand, ernstige postnatale microcefalie, frequente congenitale hartdefecten en kenmerkende faciale dysmorfie (met onder meer grof gelaat, anteversie van de neusgaten, dun vermiljoen, uitgesproken alveolaire rand en retro- of micrognathie). Bijkomende gangbare kenmerken zijn onder meer neurologische anomalieën (hyper-/hypotonie, sensorineurale doofheid, hydrocefalie, cerebrale atrofie, insulten), alsook brachydactylie, cutis marmorata en genitale anomalieën."},"pt":{"name":"Síndrome polimalformativo letal, tipo Boissel"},"pl":{"name":"Letalny zespół mnogich wad wrodzonych, typ Boissela","definition":"*Letalny zespół mnogich wad wrodzonych, typ Boissela, jest rzadkim, genetycznie uwarunkowanym, letalnym zespołem mnogich wad wrodzonych /zespołem dysmorficznym, który charakteryzuje się brakiem prawidłowego rozwoju, ciężkim opóźnieniem rozwoju, znacznym małogłowiem po urodzeniu, często występującymi wadami wrodzonymi serca i charakterystyczną dysmorfią twarzy (grube rysy twarzy z zadartymi nozdrzami, cienka czerwień wargowa, wydatny wyrostek zębodołowy i retro- lub mikrognacja). Dodatkowe, często występujące, objawy to: zaburzenia neurologiczne (hiper-/hipotonia, niedosłuch czuciowo-nerwowy, wodogłowie, zanik mózgu, drgawki), a także brachydaktylia, skóra marmurkowata i wady narządów płciowych."},"cs":{"name":"Letální polymalformativní syndrom, Boisselové typ"},"uk":{"name":"Летальний поліформативний синдром, тип Буасселя","definition":"A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies."},"zh":{"name":"Boissel型致死性多畸形综合征","definition":"Boissel型致死性多形性综合征是一种罕见的遗传性致命性多发性先天畸形/畸形综合征，其主要临床表现为发育障碍，重度发育迟滞，重度小头畸形，常见先天性心脏缺陷和特征性面部畸形（包括面部粗糙与鼻孔前倾，鲜红的牙槽嵴突出、变薄和下颌后缩或下颌短小）。其它常见特征包括神经系统异常（张力过高/低、感音神经性耳聋、脑积水、脑萎缩、惊厥），以及短指畸形、大理石样皮肤和生殖器异常。"},"tr":{"name":"Letal polimalformatif sendrom, Boissel tipi"}},"xrefs":[{"source":"OMIM","code":"612938","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"460561933"},{"source":"MONDO","code":"0013050","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755275","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]}],"children":[],"genes":[{"symbol":"FTO","name":"FTO alpha-ketoglutarate dependent dioxygenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19559399[PMID]","hgnc":"24678","ensembl":"ENSG00000140718","omim":"610966","loci":["16q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"26378117[PMID]_19559399[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26378117[PMID]_19559399[PMID]"}],"phenotypes":null}