{"orpha":1964,"name":"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Char-Douglas-Dungan syndrome"],"definition":"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1964/","orphanet_url":"https://www.orpha.net/en/disease/detail/1964","names":{"fr":{"name":"Syndrome d'extrasystoles-petite taille-hyperpigmentation-microcéphalie","synonyms":["Syndrome de Char-Douglas-Dungan"],"definition":"Syndrome malformatif génétique rare avec petite taille caractérisé par une microcéphalie, une déficience intellectuelle limite, une hyperpigmentation de la peau, une petite taille et des extrasystoles ventriculaires. Une syncope cardiaque peut également être associée. Aucun cas n'a été décrit dans la littérature depuis 1975."},"de":{"name":"Extrasystolen-Kleinwuchs-Hyperpigmentierung-Mikrozephalie-Syndrom","synonyms":["Char-Douglas-Dungan-Syndrom"]},"es":{"name":"Síndrome de extrasístoles-talla baja-hiperpigmentación-microcefalia","synonyms":["Síndrome de Char-Douglas-Dungan"],"definition":"El síndrome de extrasístoles - talla baja - hiperpigmentación - microcefalia, es un síndrome malformativo genético poco frecuente caracterizado por talla baja, microcefalia, discapacidad intelectual límite, hiperpigmentación cutánea y extrasístoles ventriculares. También puede tener asociado síncope cardíaco. No ha habido más casos descritos en la literatura desde 1975."},"it":{"name":"Sindrome da extrasistoli, bassa statura, iperpigmentazione e microcefalia","synonyms":["Sindrome di Char-Douglas-Dungan"],"definition":"La sindrome che associa extrasistoli, bassa statura, iperpigmentazione e microcefalia è una malattia malformativa genetica rara con bassa statura, caratterizzata da microcefalia, disabilità intellettiva borderline, iperpigmentazione della cute, bassa statura ed extrasistoli ventricolari. Può associarsi a sincope cardiaca. Non sono stati descritti nuovi casi dopo il 1975."},"nl":{"name":"Extrasystolen - kleine gestalte - hyperpigmentatie - microcefalie-syndroom","synonyms":["Syndroom van Char-Douglas-Dungan"],"definition":"Extrasystolen - kleine gestalte - hyperpigmentatie - microcefalie-syndroom is een zeldzaam, genetisch malformatiesyndroom met kleine gestalte, en wordt gekarakteriseerd door microcefalie, marginale intellectuele achterstand, hyperpigmentatie van de huid, kleine gestalte, en ventriculaire extrasystolen. Cardiale syncope kan ook geassocieerd zijn. Sinds 1975 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de extra-sístoles-baixa estatura-hiperpigmentação-microcefalia","synonyms":["Síndrome Char-Douglas-Dungan"]},"pl":{"name":"Zespół skurcze dodatkowe – niski wzrost – hiperpigmentacja – małogłowie","synonyms":["Zespół Char, Douglasa i Dungana"],"definition":"*Zespół skurcze dodatkowe – niski wzrost – hiperpigmentacja – małogłowie jest rzadkim, genetycznie uwarunkowanym zespołem wad rozwojowych z niskim wzrostem, który charakteryzuje się małogłowiem, graniczną niepełnosprawnością intelektualną, przebarwieniami skóry, niskim wzrostem i dodatkowymi skurczami komorowymi. Towarzyszyć mogą utraty przytomności. Od 1975 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující extrasystoly, malý vzrůst, hyperpigmentaci a mikrocefalii","synonyms":["Charův-Douglasův-Dunganův syndrom","Char-Douglas-Dunganův syndrom"]},"uk":{"name":"Синдром екстрасистолії-низького зросту-гіперпігментації- мікроцефалії","synonyms":["Синдром Шар-Дугласа-Дунгана"],"definition":"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975."},"zh":{"name":"早搏-身材矮小-色素沉着-小头畸形综合征","synonyms":["Char-Douglas-Dungan综合征"]},"tr":{"name":"Ekstrasistoller-kısa boy-hiperpigmentasyon-mikrosefali sendromu","synonyms":["Char-Douglas-Dungan sendromu"]}},"xrefs":[{"source":"OMIM","code":"133750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007588","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749763","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2213","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1218236[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1218236[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:0006689","label":"Bacterial endocarditis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006682","label":"Ventricular extrasystoles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}