{"orpha":2325,"name":"Epidermolysis bullosa simplex with anodontia/hypodontia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["EBS with anodontia/hypodontia","Kallin syndrome"],"definition":"A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2325/","orphanet_url":"https://www.orpha.net/en/disease/detail/2325","names":{"fr":{"name":"Epidermolyse bulleuse simple avec anodontie/hypodontie","synonyms":["EBS avec anodontie/hypodontie","Syndrome de Kallin"],"definition":"Epidermolyse bulleuse simple rare caractérisée par l'association des bulles caractéristiques de la maladie induites par un traumatisme avec d'autres signes, tels qu'une déficience auditive, une alopécie, une hypo- ou anodontie et une dystrophie unguéale. Des cas de vitiligo affectant des zones cutanées autres que celles touchées par les bulles ont également été rapportés."},"de":{"name":"Epidermolysis bullosa simplex mit Anodontie/Hypodontie","synonyms":["EBS mit Anodontie/Hypodontie","Kallin-Syndrom"],"definition":"Eine seltene Form der Epidermolysis bullosa simplex, bei der die typischen traumatisch bedingten Blasen mit zusätzlichen Merkmalen wie Hörstörungen, Alopezie, Hypo- oder Anodontie und Nageldystrophie einhergehen. Auch das Auftreten vitiliginöser Hautareale, die nicht mit den Blasen in Verbindung stehen, ist beschrieben worden."},"es":{"name":"Epidermólisis ampollosa simple con anodoncia/hipodoncia","synonyms":["EBS con anodoncia/hipodoncia","Epidermólisis bullosa simple con anodoncia/hipodoncia","Síndrome de Kallin"],"definition":"Es una epidermólisis simple poco frecuente que se caracteriza por la asociación de las típicas ampollas inducidas por el traumatismo con rasgos adicionales que incluyen discapacidad auditiva, alopecia, hipo- o anodoncia y distrofia ungueal. También se ha descrito la presencia de áreas cutáneas vitiliginosas no relacionadas con los lugares de las ampollas."},"it":{"name":"Epidermolisi bollosa semplice con anodontia/ipodontia","synonyms":["EBS con anodontia/ipodontia","Sindrome di Kallin"],"definition":"Si tratta di un'epidermolisi bollosa semplice rara, caratterizzata dalle tipiche vesciche indotte dai traumi, associate ad ipoacusia, alopecia, ipo- o anodontia e distrofia ungueale. I pazienti possono presentare anche zone di cute vitiliginosa diverse da quelle in cui si localizzano le vesciche."},"nl":{"name":"Epidermolysis bullosa simplex met anodontie/hypodontie","synonyms":["EBS met anodontie/hypodontie","Syndroom van Kallin"],"definition":"Een zeldzame epidermolysis bullosa simplex, gekenmerkt door de associatie van de typische door trauma geïnduceerde blaren met bijkomende kenmerken, waaronder slechthorendheid, alopecie, hypo- of anodontie, en nageldystrofie. Voorkomen van vitiligineuze gebieden op de huid niet gerelateerd aan de plaatsen waar de blaren zijn gesitueerd, werd ook reeds beschreven."},"pt":{"name":"Epidermólise bolhosa simples com anodontia/hipodontia","synonyms":["EBS com anodontia/hipodontia","Síndrome Kallin"]},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka z adoncją/hipodoncją","synonyms":["Zespół Gamborga i Nielsena","Zespół Kallina"]},"cs":{"name":"Epidermolysis bullosa simplex s anodoncií/hypodoncií","synonyms":["Gamborgův-Nielsenův syndrom","Kallinův syndrom","Gamborg-Nielsenův syndrom"]},"uk":{"name":"Простий бульозний епідермоліз з анодонтією/гіподонтією","synonyms":["EBS при анодонтії/гіподонтії","Синдром Калліна"],"definition":"A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described."},"zh":{"name":"单纯大疱性表皮松解伴先天性无齿症/牙发育不全","synonyms":["Gamborg-Nielsen 综合征"]},"tr":{"name":"Anodonti/hipodonti ile görülen epidermolizis bülloza simpleks","synonyms":["Kallin sendromu","Gamborg-Nielsen sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q81.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC30","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016514","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595351,"name":"Epidermolysis bullosa simplex with extracutaneous involvement","classifications":[156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"2420118[PMID]_7911628[PMID]_25251718[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail 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:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}