{"orpha":589608,"name":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RHOA-related mosaic ectodermal dysplasia"],"definition":"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589608/","orphanet_url":"https://www.orpha.net/en/disease/detail/589608","names":{"fr":{"name":"Hypopigmentation linéaire et asymétrie craniofaciale avec anomalies acrales, oculaires et cérébrales","synonyms":["Dysplasie ectodermique en mosaïque liée à RHOA"],"definition":"Dysplasie ectodermique rare caractérisée par une hypopigmentation linéaire et une hypotrichose le long des lignes de Blaschko, une dysmorphie faciale symétrique ou asymétrique et une asymétrie du corps, associées à des anomalies acrales, dentaires et oculaires. Les manifestations rapportées incluent : microphtalmie, strabisme, myopie, oligodontie, microdontie, dents coniques, anomalies de l'émail, brachydactylie, syndactylie et gros orteil large, et dysmorphie faciale à type de fentes palpébrales inclinées vers le bas, de large pont nasal, d'hypoplasie malaire et de microstomie. L'imagerie cérébrale peut mettre en évidence une leucoencéphalopathie kystique et une dilatation ventriculaire."},"de":{"name":"Lineare Hypopigmentierung und kraniofaziale Asymmetrie mit Akren-, Augen- und Gehirnanomalien","synonyms":["RHOA-assoziierte ektodermale Dysplasie im Mosaik"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch lineare Hypopigmentierung und Hypotrichose nach Blaschko, symmetrische oder asymmetrische Gesichtsdysmorphien und Körperasymmetrie in Verbindung mit Augen-, Zahn- und Akralanomalien gekennzeichnet ist. Zu den berichteten Manifestationen gehören Mikrophthalmie, Strabismus, Myopie, Oligodontie, Mikrodontie, konische Zähne, abnormaler Zahnschmelz, Brachydaktylie, Syndaktylie und eine breite erste Zehe sowie Gesichtsdysmorphien (schräg abwärts verlaufende Lidspalten, breiter Nasenrücken, Malarhypoplasie und Mikrostomie). Die Bildgebung des Gehirns kann eine zystische Leukoenzephalopathie und eine Ventrikeldilatation zeigen."},"es":{"name":"Hipopigmentación lineal y asimetría craneofacial con anomalías acrales, oculares y cerebrales","synonyms":["Displasia ectodérmica en mosaico asociada a RHOA"],"definition":"Es un síndrome poco frecuente de displasia ectodérmica caracterizado por hipopigmentación lineal e hipotricosis siguiendo las líneas de Blaschko, dismorfia facial simétrica o asimétrica y asimetría corporal, en asociación con anomalías oculares, dentales y acrales. Las manifestaciones descritas incluyen microftalmia, estrabismo, miopía, oligodoncia, microdoncia, dientes cónicos, anomalías del esmalte, braquidactilia, sindactilia y primer dedo del pie ancho, así como rasgos faciales dismórficos (fisuras palpebrales descendentes, puente nasal ancho, hipoplasia malar y microstomía). La neuroimagen puede mostrar leucoencefalopatía quística y dilatación ventricular."},"it":{"name":"Ipopigmentazione lineare e asimmetria craniofacciale con anomalie acrali, oculari e cerebrali","synonyms":["Displasia ectodermica in mosaico associata a RHOA"],"definition":"Si tratta di una displasia ectodermica rara, caratterizzata da ipopigmentazione lineare e ipotricosi lungo le linee di Blaschko, dismorfismi facciali simmetrici o asimmetrici, e asimmetria del corpo, associati ad anomalie oculari, dentali e acrali. I pazienti presentano microftalmia, strabismo, miopia, oligodontia, microdontia, denti conici, anomalie dello smalto, brachidattilia, sindattilia, alluce tozzo e dismorfismi facciali (rime palpebrali oblique verso il basso, sella nasale ampia, ipoplasia malare e microstomia). Le neuroimmagini evidenziano leucoencefalopatia cistica e dilatazione dei ventricoli."},"nl":{"name":"Lineaire hypopigmentatie en craniofaciale asymmetrie met acrale, oculaire en cerebrale anomalieën","synonyms":["RHOA-gerelateerde mozaïsche ectodermale dysplasie"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekenmerkt door lineaire hypopigmentatie en hypotrichose langs lijnen van Blaschko, symmetrische of asymmetrische faciale dysmorfie, en asymmetrie van het lichaam, in associatie met oculaire, dentale en acrale anomalieën. Gerapporteerde manifestaties zijn onder meer microftalmie, strabisme, myopie, oligodontie, microdontie, kegelvormige tanden, abnormaal tandglazuur, brachydactylie, syndactylie, en brede eerste teen, alsook dysmorfe gelaatskenmerken zoals schuin naar beneden hellende ooglidspleten, brede neusbrug, hypoplasie van jukbeen, en microstomie. Beeldvorming van hersenen toont mogelijk cystische leuko-encefalopathie en dilatatie van ventrikels."},"pt":{"name":"Hipopigmentação linear e assimetria facial com anomalias acrais, oculares e cerebrais","definition":"Síndrome de displasia ectodérmica rara caracterizada por hipopigmentação linear e hipotricose seguindo as linhas de Blaschko, dismorfia facial simétrica ou assimétrica e assimetria corporal, em associação com anomalias oculares, dentais e acrais. As manifestações descritas incluem microftalmia, estrabismo, miopia, oligodontia, microdontia, dentes cónicos, esmalte anómalo, braquidactilia, sindactilia e aumento do volume do primeiro dedo do pé, assim como características faciais dismórficas, como fissura palpebral inclinada para baixo, ponte nasal larga, hipoplasia malar e microstomia. A imagiologia cerebral pode evidenciar leucoencefalopatia quística e dilatação ventricular."},"pl":{"name":"Hipopigmentacja linijna i asymetria twarzoczaszkowa z wadami palców, oczu i mózgu","synonyms":["Dysplazja ektodermalna mozaikowa związana z RHOA"]},"cs":{"name":"Lineární hypopigmentace a kraniofaciální asymetrie s akrálními, očními a mozkovými anomáliemi","synonyms":["RHOA-related mosaic ectodermal dysplasia"]},"uk":{"name":"Лінійна гіпопігментація та черепно-лицьова асиметрія з акральними, очними та мозковими аномаліями","synonyms":["Мозаїчна ектодермальна дисплазія, повязана з RHOA"],"definition":"A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation."},"zh":{"name":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","synonyms":["RHOA-related mosaic ectodermal dysplasia"]},"tr":{"name":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","synonyms":["RHOA-related mosaic ectodermal dysplasia"]}},"xrefs":[{"source":"OMIM","code":"618727","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035124","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[{"symbol":"RHOA","name":"ras homolog family member A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31570889[PMID]","hgnc":"667","ensembl":"ENSG00000067560","omim":"165390","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"31570889[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}