{"orpha":2117,"name":"Hartsfield syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2117/","orphanet_url":"https://www.orpha.net/en/disease/detail/2117","names":{"fr":{"name":"Syndrome de Hartsfield","synonyms":["Syndrome d'holoprosencéphalie-ectrodactylie-fente labiopalatine"],"definition":"Syndrome rare d'anomalies congénitales multiples d'origine génétique, caractérisé par une expression variable du spectre de l'holoprosencéphalie (HPE) associée à une ectrodactylie, une fente labiale/palatine et/ou d'autres anomalies ectodermiques. Un retard de développement de sévérité variable et des anomalies endocriniennes sont souvent associés."},"de":{"name":"Hartsfield-Syndrom","synonyms":["Holoprosenzephalie-Ektrodaktylie-Lippen-Kiefer-Gaumenspalte-Syndrom"],"definition":"Ein seltenes, genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien, das durch eine variable Ausprägung des Holoprosenphalie-Spektrums (HPE) in Verbindung mit Ektrodaktylie, Lippen-Gaumenspalte und/oder anderen ektodermalen Anomalien gekennzeichnet ist. Entwicklungsverzögerungen unterschiedlichen Schweregrades und endokrine Anomalien sind häufig assoziiert."},"es":{"name":"Síndrome de Hartsfield","synonyms":["Síndrome de holoprosencefalia-ectrodactilia-fisura labiopalatina"],"definition":"Es un síndrome de múltiples malformaciones congénitas, de origen genético y poco frecuente caracterizado por una expresión variable del espectro de la holoprosencefalia (HPE) asociado a ectrodactilia, labio leporino/paladar hendido y/u otras anomalías ectodérmicas. A menudo se asocia a retraso psicomotor de gravedad variable y anomalías endocrinas."},"it":{"name":"Sindrome di Hartsfield","synonyms":["Oloprosencefalia - ectrodattilia - schisi labiopalatina"],"definition":"Si tratta di una malattia genetica rara da anomalie congenite multiple, caratterizzata da un'espressione variabile dello spettro dell'oloprosenfalia (HPE), ectrodattilia, labio/palatoschisi e/o altre anomalie ectodermiche. Spesso i pazienti presentano ritardo dello sviluppo di gravità variabile e anomalie endocrine."},"nl":{"name":"Syndroom van Hartsfield","synonyms":["Holoprosencefalie - ectrodactylie - gespleten lip/verhemelte-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekarakteriseerd door variabele expressie van het holoprosencefalie (HPE)-spectrum in associatie met ectrodactylie, gespleten lip/gehemelte, en/of andere ectodermale anomalieën. Ontwikkelingsachterstand met variabele gradaties van ernst en endocriene afwijkingen zijn vaak geassocieerd."},"pt":{"name":"Síndrome Hartsfield","synonyms":["Síndrome de holoprosencefalia-ectrodactilia-fenda lábio-palatina"]},"pl":{"name":"Zespół Hartsfielda, Bixlera i Demyera","synonyms":["Holoprozencefalia - ektrodaktylia - rozszczep wargi i podniebienia"],"definition":"*Zespół Hartsfielda, Bixlera i Demyera to rzadka, genetycznie uwarunkowana wada rozwojowa powstająca podczas wczesnych etapów embriogenezy, która charakteryzuje się asocjacją różnego stopnia holoprozencefalii i jedno- lub obustronnej ektrodaktylii dłoni i/lub stóp. Dodatkowe, zmiennie występujące objawy obejmują dysmorfię twarzy (hiperteloryzm, krótki bulwiasty nos, długa rynienka podnosowa, dysplastyczne/nisko osadzone uszy, rozszczep wargi i podniebienia, warga górna o namiotowatym kształcie), inne wady rozwojowe mózgu (agenezja ciała modzelowatego, brak przegrody przezroczystej, brak opuszki/dróg węchowych, hipoplazja robaka), zaburzenia endokrynologiczne związane z dysfunkcją przysadki mózgowej (np. moczówka prosta ośrodkowa, hipogonadyzm hipogonadotropowy) oraz dysfunkcją podwzgórza."},"cs":{"name":"Hartsfieldův-Bixlerův-Demyerův syndrom","synonyms":["Syndrom zahrnující holoprosencefalii, ektrodaktylii a rozštěp rtu a patra"]},"uk":{"name":"Синдром Хартсфілда","synonyms":["Синдром голопрозенцефалії-екстродактилії-розщеплення губи/піднебіння"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated."},"zh":{"name":"Hartsfield综合征","synonyms":["前脑无脑畸形-先天性缺指畸形-唇腭裂综合征"]},"tr":{"name":"Hartsfield sendromu","synonyms":["Holoprosensefali-ektrodaktili-yarık dudak / damak sendromu"]}},"xrefs":[{"source":"OMIM","code":"615465","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014196","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14196","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564484","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845146","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2725","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23812909[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"23812909[PMID]_EXPERT"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23812909[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006870","label":"Lobar holoprosencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null}]}}