{"orpha":1214,"name":"Progressive hemifacial atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hemifacial atrophy","PHA","Parry-Romberg syndrome","Progressive facial hemiatrophy","Romberg syndrome"],"definition":"Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1214/","orphanet_url":"https://www.orpha.net/en/disease/detail/1214","names":{"fr":{"name":"Atrophie hémifaciale progressive","synonyms":["Atrophie hémifaciale","Hémiatrophie faciale progressive","Syndrome de Parry-Romberg","Syndrome de Romberg"],"definition":"Maladie acquise rare, caractérisée par une atrophie unilatérale et lentement progressive de la peau et des tissus mous de la moitié du visage, conférant à celui-ci un aspect enfoncé. Les muscles, le cartilage et les structures osseuses sous-jacentes peuvent également être touchés."},"de":{"name":"Hemiatrophia facialis progressiva","synonyms":["Parry-Romberg-Syndrom"],"definition":"Die progressive hemifaziale Atrophie (PHA) ist eine seltene erworbene Erkrankung, die durch eine einseitige, langsam fortschreitende Atrophie der Haut und der Weichteile der Gesichtshälfte gekennzeichnet ist und zu einem eingefallenen Aussehen führt. Auch Muskeln, Knorpel und die darunter liegenden knöchernen Strukturen können betroffen sein."},"es":{"name":"Atrofia hemifacial progresiva","synonyms":["Síndrome de Parry-Romberg"],"definition":"La atrofia hemifacial progresiva (AHP) es un trastorno adquirido poco frecuente caracterizado por atrofia unilateral lentamente progresiva de la piel y de los tejidos blandos de la mitad del rostro, que produce una apariencia hundida. También pueden estar afectados los músculos, cartílagos y estructuras óseas subyacentes."},"it":{"name":"Atrofia emifacciale progressiva","synonyms":["Sindrome di Parry Romberg"],"definition":"L'atrofia emifacciale progressiva (PHA) è una malattia rara acquisita, caratterizzata da atrofia monolaterale, a progressione lenta, della cute e dei tessuti molli della metà del viso, che esita nel caratteristico viso scavato. Possono essere interessati anche i muscoli, la cartilagine e le strutture ossee sottostanti."},"nl":{"name":"Progressieve hemifaciale atrofie","synonyms":["Hemifaciale atrofie","PHA","Progressieve faciale hemiatrofie","Syndroom van Parry-Romberg","Syndroom van Romberg"],"definition":"Progressieve hemifaciale atrofie (PHA) is een zeldzame verworven stoornis die wordt gekarakteriseerd door unilaterale, traag progressieve atrofie van de huid en zachte weefsels van de helft van het gezicht, wat leidt tot een ingevallen uiterlijk. Spieren, kraakbeen en de onderliggende botstructuren kunnen ook betrokken zijn."},"pt":{"name":"Atrofia hemifacial progressiva","synonyms":["Síndrome Parry-Romberg"]},"pl":{"name":"Postępujący zanik połowiczy twarzy","synonyms":["Zespół Parry'ego i Romberga"]},"cs":{"name":"Progresivní hemifaciální atrofie","synonyms":["Hemifaciální atrofie","PHA","Parryho-Rombergův syndrom","Progresivní hemiatrofie obličeje","Rombergův syndrom","Parry-Rombergův syndrom"]},"uk":{"name":"Прогресуюча геміфаціальна атрофія","synonyms":["Напівлицьова атрофія","Синдром Паррі-Ромберга","PHA","Прогресуюча геміатрофія обличчя","Синдром Ромберга"],"definition":"Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved."},"zh":{"name":"进行性半侧颜面萎缩","synonyms":["进行性半侧颜面萎缩"]},"tr":{"name":"İlerleyici hemifasiyal atrofi","synonyms":["PHA","Romberg sendromu","Hemifasiyal atrofi","Parry-Romberg sendromu","ilerleyici fasiyal hemiatrofisi"]}},"xrefs":[{"source":"OMIM","code":"141300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G51.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EB61.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1238236853"},{"source":"MONDO","code":"0007710","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7710","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015458","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7338","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073006","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102005,"name":"Brain inflammatory disease","classifications":[181]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":166484,"name":"Inflammatory and autoimmune disease with epilepsy","classifications":[181]},{"orpha":324933,"name":"Mixed autoinflammatory and autoimmune syndrome","classifications":[196]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":519329,"name":"Rare disorder involving multiple structures of the eye","classifications":[189]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.143,"area":"United States","status":"Validated","source":"12963760[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000277","label":"Abnormality of the mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null}]}}