{"orpha":929,"name":"Achalasia-microcephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-929/","orphanet_url":"https://www.orpha.net/en/disease/detail/929","names":{"fr":{"name":"Syndrome d'achalasie-microcéphalie","definition":"Syndrome génétique extrêmement rare caractérisé par l'association d'une microcéphalie, d'une déficience intellectuelle et d'une achalasie (avec des symptômes de toux, de dysphagie, de vomissements, de retard de croissance staturo-pondérale et d'aspiration apparaissant dans la petite enfance). L'exposition prénatale à la méfloquine a été rapportée dans un seul cas."},"de":{"name":"Achalasie - Mikrozephalie"},"es":{"name":"Síndrome de acalasia-microcefalia","definition":"Es un síndrome genético muy poco frecuente caracterizado por la asociación de microcefalia, déficit intelectual y acalasia (con los síntomas de tos, disfagia, vómitos, fallo de medro y aspiración de inicio en la lactancia o infancia temprana). Se ha descrito exposición prenatal a mefloquina en un único caso. Se ha propuesto un patrón de herencia autosómico recesivo."},"it":{"name":"Sindrome acalasia - microcefalia","definition":"L'acalasia associata a microcefalia è una malattia molto rara di origine genetica, descritta in poche famiglie e caratterizzata dall'associazione tra microcefalia, deficit intellettivo e acalasia (tosse, disfagia, vomito, ritardo della crescita e aspirazione nel periodo neonatale o nella prima infanzia). In un caso è stata descritta l'esposizione prenatale alla meflochina. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Achalasie - microcefalie-syndroom","definition":"Een uiterst zeldzaam, genetisch syndroom, gekarakteriseerd door de associatie van microcefalie, intellectuele stoornis en achalasie (met als symptomen hoest, dysfagie, braken, groeifalen en aspiratie met aanvang in de zuigelingentijd/vroege kindertijd). In een enkel geval werd prenatale blootstelling aan mefloquine gerapporteerd."},"pt":{"name":"Síndrome de acalasia-microcefalia"},"pl":{"name":"Achalazja- mikrocefalia"},"cs":{"name":"Syndrom zahrnující achalázii a mikrocefalii"},"uk":{"name":"Синдром ахалазії-мікроцефалії","definition":"An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case."},"zh":{"name":"贲门失弛缓-小头综合征"},"tr":{"name":"Akalazya-mikrosefali sendromu"}},"xrefs":[{"source":"OMIM","code":"200450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q39.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008699","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860212","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"456","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371445,"name":"Genetic syndromic esophageal malformation","classifications":[156]},{"orpha":108961,"name":"Syndromic esophageal malformation","classifications":[147,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"3048841[PMID]_2591072[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3048841[PMID]_2591072[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002571","label":"Achalasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","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:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null}]}}