{"orpha":1133,"name":"AREDYLD syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Acrorenal defect-ectodermal dysplasia-diabetes syndrome"],"definition":"A rare genetic ectodermal dysplasia syndrome characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1133/","orphanet_url":"https://www.orpha.net/en/disease/detail/1133","names":{"fr":{"name":"Syndrome AREDYLD","synonyms":["Syndrome d'anomalie acrorénale-dysplasie ectodermique-diabète"],"definition":"Dysplasie ectodermique rare caractérisée par un diabète lipoatrophique, une légère dysmorphie craniofaciale (incisure intertragique prononcée et prognathie mandibulaire), une dysplasie ectodermique (hypotrichose généralisée et anomalies des ongles et des dents), une hypoplasie ou une aplasie mammaire et des anomalies génito-urinaires/rénales. Parmi les autres manifestations rapportées figurent des malformations squelettiques et une hépatosplénomégalie. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"AREDYLD-Syndrom","synonyms":["Akrorenale Anomalien mit ektodermaler Dysplasie und Diabetes"],"definition":"Ein seltenes genetisches Ektodermale-Dysplasie-Syndrom, das durch lipoatrophischen Diabetes, leichte kraniofaziale Dysmorphien (wie ausgeprägte antitragale Inzisura und Progenie des Unterkiefers), ektodermale Dysplasie (generalisierte Hypotrichose und Zahn- und Nagelanomalien), Hypoplasie oder Aplasie der Brüste und urogenitale/renale Anomalien gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören Skelettanomalien und Hepatosplenomegalie. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome AREDYLD","synonyms":["Anomalía acrorenal-displasia ectodérmica-diabetes"],"definition":"Es un síndrome poco frecuente de displasia ectodérmica de base genética caracterizado por diabetes lipoatrófica, dismorfia craneofacial discreta (como incisura antitrago pronunciada y prognatismo mandibular), displasia ectodérmica (hipotricosis generalizada y anomalías dentales y ungueales), hipoplasia o aplasia mamaria y anomalías urogenitales/renales. Las manifestaciones adicionales descritas incluyen anomalías esqueléticas y hepatoesplenomegalia. No ha habido más descripciones en la literatura desde 1992."},"it":{"name":"Sindrome AREDYLD","synonyms":["Anomalia acrorenale - displasia ectodermica - diabete"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da diabete lipoatrofico, dismorfismi craniofacciali sfumati (incisura antitragica pronunciata, prognatismo mandibolare), displasia ectodermica (ipotricosi generalizzata e anomalie dei denti e delle unghie), ipoplasia o aplasia delle mammelle e anomalie urogenitali/renali. I pazienti possono presentare anche anomalie scheletriche ed epatosplenomegalia."},"nl":{"name":"AREDYLD-syndroom","synonyms":["Acrorenaal defect - ectodermale dysplasie - diabetes-syndroom"],"definition":"Een zeldzaam, genetisch ectodermale-dysplasiesyndroom, gekenmerkt door lipoatrofische diabetes, milde craniofaciale dysmorfie (zoals uitgesproken incisura van antitragus en mandibulaire prognathie), ectodermale dysplasie (gegeneraliseerde hypotrichose en afwijkingen van tanden en nagels), hypoplasie of aplasie van borst, en urogenitale/renale anomalieën. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer skeletanomalieën en hepatosplenomegalie. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome AREDYLD","definition":"Síndrome de displasia ectodérmica genética rara caracterizada por diabetes lipoatrófica, dismorfismo craniofacial ligeiro (como incisura antitragal pronunciada e prognatismo mandibular), displasia ectodérmica (hipotricose generalizada e anomalias dentárias e ungueais), hipoplasia ou aplasia mamária e anomalias urogenitais/renais. Manifestações adicionais incluem anomalias esqueléticas e hepatoesplenomegalia. Não existem descrições adicionais na literatura desde 1992."},"pl":{"name":"Zespół AREDYLD","synonyms":["Defekt kończynowo-nerkowy - dysplazja naskórka - cukrzyca"],"definition":"Rzadki, genetycznie uwarunkowany zespół dysplazji ektodermalnej, który charakteryzuje się cukrzycą lipoatroficzną, łagodną dysmorfią czaszkowo-twarzową (wyraźne wcięcie przeciwskrawka, prognatyzm), dysplazją ektodermalną (uogólniona hipotrychoza oraz nieprawidłowości zębów i paznokci), hipoplazją lub aplazją piersi oraz wadami układu moczowo-płciowego/nerek. Dodatkowo zgłaszane objawy to nieprawidłowości kostne i hepatosplenomegalia. Od 1992 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"AREDYLD syndrom","synonyms":["Syndrom zahrnující akrorenální defekty, ektodermální dysplázii a diabetes"]},"uk":{"name":"Синдром AREDYLD","synonyms":["Синдром акроренального дефекту-ектодермальної дисплазії-цукрового діабету"],"definition":"A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly."},"zh":{"name":"AREDYLD 综合征","synonyms":["肾缺损-外胚层发育不良-糖尿病综合征"]},"tr":{"name":"AREDYLD sendromu","synonyms":["Akrorenal defekt-ektodermal displazi-diyabet sendromu"]}},"xrefs":[{"source":"OMIM","code":"207780","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2007371732"},{"source":"MONDO","code":"0008812","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537427","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342280","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8509","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]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6638067[PMID]_1488989[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6638067[PMID]_1488989[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009912","label":"Abnormal tragus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010311","label":"Aplasia/Hypoplasia of the breasts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004828","label":"Refractory anemia with ringed sideroblasts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null}]}}