{"orpha":2500,"name":"Acrogeria","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acrogeria, Gottron type","Acrometageria","Gottron syndrome"],"definition":"A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2500/","orphanet_url":"https://www.orpha.net/en/disease/detail/2500","names":{"fr":{"name":"Acrogérie","synonyms":["Acrogeria","Acrogeria type Gottron","Acrogérie type Gottron","Acrometageria","Acrométagérie","Syndrome de Gottron"],"definition":"Syndrome rare de vieillissement prématuré caractérisé par une atrophie de la peau et des tissus sous-cutanés affectant principalement les parties distales des extrémités, conférant aux mains et aux pieds un aspect prématurément vieilli. Parmi les autres traits caractéristiques figurent un faciès typique marqué par des joues creuses, un nez en bec d'oiseau et des yeux dont la forme rappelle ceux d'un hibou. D'autres manifestations non dermatologiques, telles que des anomalies osseuses, ont été décrites chez certains patients. Le mode de transmission n'a pas été définitivement établi."},"de":{"name":"Akrogerie","synonyms":["Akrogerie Typ Gottron","Akrometagerie","Gottron-Syndrom"],"definition":"Ein seltene Krankheit aus der Gruppe der vorzeitigen Alterungssyndrome, die durch eine Atrophie der Haut und des Unterhautgewebes gekennzeichnet ist, die vor allem die distalen Teile der Extremitäten betrifft und zu einem vorzeitig gealterten Aussehen der Hände und Füße führt. Ein weiteres auffälliges Merkmal ist das charakteristische Gesicht mit hohlen Wangen, Schnabelnase und eulenartigen Augen. Bei einigen Patienten wurden zusätzliche, nicht dermatologische Manifestationen, wie Knochenanomalien, beschrieben. Der Vererbungsmodus ist noch nicht endgültig geklärt."},"es":{"name":"Acrogeria","synonyms":["Acrogeria tipo Gottron","Acrometageria","Síndrome de Gottron"],"definition":"Es un síndrome poco frecuente de envejecimiento prematuro caracterizado por atrofia de la piel y del tejido subcutáneo, afectando predominantemente a las porciones distales de las extremidades y resultando en una apariencia prematuramente envejecida de las manos y los pies. Otro hallazgo destacado es una facies característica con mejillas hundidas, nariz picuda y ojos prominentes. En algunos pacientes se han descrito, además, otras manifestaciones no dermatológicas, como anomalías óseas. El modo de herencia no ha sido completamente establecido."},"it":{"name":"Acrogeria","synonyms":["Acrogeria, tipo Gottron","Acrometageria","Sindrome di Gottron"],"definition":"Si tratta di una malattia rara da invecchiamento precoce, caratterizzata da atrofia della cute e del tessuto sottocutaneo, che interessa per lo più la porzione distale degli arti, e che esita in un aspetto prematuramente senile delle mani e dei piedi. Un altro segno clinico caratteristico è la facies con guance scavate, naso a becco e occhi da civetta. Alcuni pazienti presentano anche segni clinici non dermatologici, come le anomalie scheletriche. La modalità di trasmissione non è nota."},"nl":{"name":"Acrogerie","synonyms":["Acrogeria","Acrogerie, Gottron-type","Acrometagerie","Syndroom van Gottron"],"definition":"Een prematuur verouderingssyndroom, gekarakteriseerd door atrofie van huid en onderhuids weefsel, vooral aan distale delen van de ledematen, met prematuur verouderd uiterlijk van handen en voeten tot gevolg. Een ander belangrijk kenmerk is het typische gelaat met holle wangen, snavelvormige neus, en uilachtige ogen. Bij sommige patiënten werden bijkomende, niet-dermatologische manifestaties, zoals botanomalieën, beschreven. De manier van overerving werd nog niet definitief vastgesteld."},"pt":{"name":"Acrogeria","synonyms":["Acrogeria, tipo Gottron","Acrometageria","Síndrome Gottron"]},"pl":{"name":"Akrogeria","synonyms":["Akrogeria, typu Gottrona","Akrometageria","Zespół Gottrona"]},"cs":{"name":"Akrogerie","synonyms":["Akrometagerie","Akrogerie, Gottronův typ","Gottronův syndrom"]},"uk":{"name":"Акрогерія","synonyms":["Акрогерія, вид Готтрон","Акрометагерія","Синдром Готтрона"],"definition":"A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established."},"zh":{"name":"肢端早老症","synonyms":["肢端早老症Gottron型"]},"tr":{"name":"Akrogeri","synonyms":["Akrometageri","Gottron sendromu","Akrogeri, Gottron türü"]}},"xrefs":[{"source":"OMIM","code":"201200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1607996977"},{"source":"MONDO","code":"0008716","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538187","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238590","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6543","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COL3A1","name":"collagen type III alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10819545[PMID]","hgnc":"2201","ensembl":"ENSG00000168542","omim":"120180","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":51.0,"area":"Worldwide","status":"Validated","source":"36353018[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36353018[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null}]}}