{"orpha":247827,"name":"Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247827/","orphanet_url":"https://www.orpha.net/en/disease/detail/247827","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-hyperhidrose-syndactylie cutanée","definition":"Dysplasie ectodermique rare caractérisée par une hypotrichose, une hypoplasie de l'émail dentaire et des ongles, une kératodermie palmoplantaire, une hyperhidrose des mains, du visage et du cuir chevelu, une syndactylie cutanée partielle bilatérale et une dysmorphie à type de grands pavillons d'oreille proéminents, de nez pointu et de lèvres supérieures fines. Une cardiomégalie a également été rapportée."},"de":{"name":"Ektodermale Dysplasie-Hyperhidrose-kutane Syndaktylie-Syndrom","synonyms":["EDSS2"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch Hypotrichose, Zahnschmelzhypoplasie, hypoplastische Nägel, Palmoplantarkeratosen, Hyperhidrosis an Händen, Gesicht und Kopfhaut, beidseitige partielle kutane Syndaktylie und Gesichtsdysmorphien mit großen, vorstehenden Ohrmuscheln, spitzer Nase und dünnen Oberlippen gekennzeichnet ist. Es wurde auch über eine Assoziation mit Kardiomegalie berichtet."},"es":{"name":"Síndrome de displasia ectodérmica-sindactilia cutánea","synonyms":["EDCS","EDSS2"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por hipotricosis, hipoplasia del esmalte dental, hipoplasia ungueal, queratodermia palmoplantar, hiperhidrosis en manos, cara y cuero cabelludo, sindactilia cutánea parcial bilateral y rasgos faciales dismórficos con pabellones auriculares grandes y prominentes, nariz puntiaguda y labio superior delgado. También se ha descrito la asociación con cardiomegalia."},"it":{"name":"Sindrome displasia ectodermica-iperidrosi-sindattilia cutanea"},"nl":{"name":"Ectodermale dysplasie - hyperhidrose - cutane syndactylie-syndroom","definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekenmerkt door hypotrichose, hypoplasie van tandglazuur, hypoplastische nagels, palmoplantaire keratodermie, hyperhidrose van handen, aangezicht en scalp, bilaterale partiële cutane syndactylie, en dysmorfe gelaatskenmerken met grote prominente oorschelpen, spitse neus, en dunne bovenlip. Associatie van cardiomegalie werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de displasia ectodérmica-hiperhidrose-sindactilia cutânea","definition":"Síndrome rara de displasia ectodérmica caracterizada por hipotricose, hipoplasia do esmalte dentário, unhas hipoplásicas, queratodermia palmoplantar, hiperidrose nas mãos, face e couro cabeludo, sindactilia cutânea parcial bilateral e características faciais dismórficas com pavilhões auriculares grandes e proeminentes, nariz pontiagudo e lábios superiores finos. Também foi reportada associação com cardiomegalia."},"pl":{"name":"Zespół dysplazja ektodermalna - syndaktylia skórna","synonyms":["EDCS","EDSS2","Zespół dysplazji ektodermalnej - nadmiernej potliwości - syndaktylii skórnej"]},"cs":{"name":"Syndrom zahrnující ektodermální dysplázii a kožní syndaktylie","synonyms":["EDCS","EDSS2"]},"uk":{"name":"Синдром ектодермальної дисплазії-гіпергідрозу-шкірної синдактилії","definition":"A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported."},"zh":{"name":"外胚层发育不良伴皮肤并指综合症","synonyms":["EDSS2"]},"tr":{"name":"Ektodermal displazi-kutanöz sindaktili sendrom","synonyms":["EDCS","EDSS2"]}},"xrefs":[{"source":"OMIM","code":"613576","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"13313","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816683","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19221800[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19221800[PMID]"}],"phenotypes":null}