{"orpha":2202,"name":"Palmoplantar keratoderma-deafness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPK-deafness syndrome","Palmoplantar hyperkeratosis-deafness syndrome","Palmoplantar hyperkeratosis-hearing loss syndrome","Palmoplantar keratoderma-hearing loss syndrome"],"definition":"Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2202/","orphanet_url":"https://www.orpha.net/en/disease/detail/2202","names":{"fr":{"name":"Syndrome de kératodermie palmoplantaire-surdité","synonyms":["Syndrome KPP-surdité","Syndrome hyperkératose palmoplantaire-surdité"],"definition":"Trouble de la kératinisation caractérisé par une kératodermie palmoplantaire focale ou diffuse. Répartie par taches, elle est plus prononcée sur les thénars, les hypothénars et les voûtes plantaires. Associée à une surdité de perception dont l'âge d'apparition est variable, la maladie se manifeste dans la petite enfance. Compte tenu des similitudes génétiques et cliniques, il a été proposé de considérer le syndrome de kératodermie palmoplantaire-surdité, le syndrome de nodosités calleuses-leuconychie-surdité-hyperkératose palmoplantaire et la kératodermie aïnhumoïde et mutilante comme variants d'un ensemble plus vaste de surdités syndromiques phénotypiquement hétérogènes. Le mode de transmission est autosomique dominant et la pénétrance incomplète."},"de":{"name":"Palmoplantarkeratose-Schwerhörigkeit-Syndrom","synonyms":["Keratoderma palmoplantaris-Schwerhörigkeit-Syndrom","PPK-Taubheit-Syndrom","Palmoplantare Hyperkeratose-Hörverlust-Syndrom"],"definition":"Das Palmoplantarkeratose-Schwerhörigkeit-Syndrom ist eine Keratinisierungsstörung, die durch fokale oder diffuse palmoplantare Keratoderma gekennzeichnet ist. Die Verhornungsstörung weist eine fleckige Verteilung mit Akzentuierung auf den Unterschenkeln, Hypothenaren und den Fußgewölben auf. Die Krankheit tritt im Säuglingsalter auf und ist mit einem sensorineuralen Hörverlust verbunden, der ein variables Manifestationsalter zeigt. Aufgrund genetischer und klinischer Ähnlichkeiten wurde vorgeschlagen, dass das Palmoplantarkeratose-Schwerhörigkeit-Syndrom, das Knuckle-Pads-Leukonychie-sensorineurale Schwerhörigkeit-palmoplantare Hyperkeratose-Syndrom und das Keratoderma hereditarium mutilans Varianten einer übergeordneten Gruppe von Störung der syndromalen Taubheit mit heterogenem Phänotyp darstellen können. Die Krankheit wird autosomal-dominant mit unvollständiger Penetranz übertragen."},"es":{"name":"Síndrome de queratodermia palmoplantar-sordera","synonyms":["Síndrome PPK-sordera","Síndrome de hiperqueratosis palmoplantar-hipoacusia","Síndrome de hiperqueratosis palmoplantar-sordera","Síndrome de queratodermia palmoplantar-hipoacusia"],"definition":"Es un trastorno de queratinización caracterizado por queratodermia palmoplantar focal o difusa. Se observa una distribución parcheada, más marcada en las áreas tenar e hipotenar y en los arcos plantares. La enfermedad se manifiesta en la lactancia y se asocia a pérdida auditiva neurosensorial que muestra una edad variable de inicio. Debido a las similitudes genéticas y clínicas, se ha propuesto que tanto el síndrome de queratodermia palmoplantar - sordera, el síndrome de almohadillas de nudillo - leuconiquia - sordera neurosensorial - hiperqueratosis palmoplantar y la queratodermia hereditaria mutilante pueden representar variantes de un trastorno amplio de sordera sindrómica con fenotipo heterogéneo. La enfermedad se transmite siguiendo un patrón autosómico dominante de penetrancia incompleta."},"it":{"name":"Sindrome cheratoderma palmoplantare-sordità","synonyms":["Sindrome PPK-sordità","Sindrome cheratoderma-perdita di udito","Sindrome ipercheratosi palmoplantare-perdita di udito","Sindrome ipercheratosi palmoplantare-sordità"],"definition":"La sindrome cheratoderma palmoplantare-sordità è un difetto della cheratinizzazione caratterizzato da cheratoderma palmoplantare localizzato o diffuso. La distribuzione delle lesioni è a macchie, più accentuate in alcune aree (palmo delle mani, pianta dei piedi, regione ipotenar e arcata plantare). La malattia si manifesta nel corso dell'infanzia e si associa a sordità neurosensoriale, che può esordire a diverse età. Per le analogie genetiche e cliniche, si è ipotizzato che la sindrome cheratoderma palmoplantare-sordità, la sindrome nodosità callose-leuconichia-sordità neurosensoriale-ipercheratosi palmoplantare e il cheratoderma ereditario mutilante siano varianti di una malattia ad ampia espressione, caratterizzata da sordità sindromica e da un quadro clinico eterogeneo. La trasmissione è autosomica dominante e la penetranza incompleta."},"nl":{"name":"Palmoplantaire keratodermie - doofheid-syndroom","synonyms":["Hyperkeratose van handpalm en voetzool - doofheid-syndroom","Keratodermie van handpalm en voetzool - doofheid-syndroom","PPK - doofheid-syndroom","Palmoplantaire hyperkeratose - doofheid-syndroom","Palmoplantaire hyperkeratose - gehoorverlies-syndroom","Palmoplantaire keratodermie - gehoorverlies-syndroom"],"definition":"Palmoplantaire keratodermie - doofheid-syndroom is een verhoorningsstoornis (keratinisatiestoornis) die wordt gekarakteriseerd door focale of diffuse palmoplantaire keratodermie. Er wordt een fragmentarische verdeling geobserveerd, waarbij vooral de duimmuis, pinkmuis en voetboog getroffen worden. De ziekte uit zich in de zuigelingentijd en is geassocieerd met sensorineuraal gehoorverlies met een variabele aanvangsleeftijd. Vanwege genetische en klinische overeenkomsten, werd voorgesteld dat palmoplantaire keratodermie - doofheid-syndroom, knuckle pads - leukonychie - sensorineurale doofheid - palmoplantaire hyperkeratose-syndroom en keratoderma hereditarium mutilans mogelijk varianten vertegenwoordigen van één brede syndromale gehoorstoornis met een heterogeen fenotype. De ziekte wordt overgedragen op een autosomaal dominante manier met onvolledige penetrantie."},"pt":{"name":"Síndrome de queratodermia palmoplantar-surdez","synonyms":["Síndrome de hiperqueratose palmoplantar-surdez"]},"pl":{"name":"Rogowiec dłoni i stóp z głuchotą","synonyms":["Zespół hiperkeratoza dłoni i stóp - głuchota","Zespół hiperkeratoza dłoni i stóp - utrata słuchu","Zespół PPK-głuchota","Zespół rogowiec dłoni i stóp - utrata słuchu"]},"cs":{"name":"Syndrom zahrnující palmoplantární keratoderma s hluchotou","synonyms":["Syndrom zahrnující PPK a hluchotu","Syndrom zahrnující palmoplantární hyperkeratózu a hluchotu","Syndrom zahrnující palmoplantární hyperkeratózu a ztrátu sluchu","Syndrom zahrnující palmoplantární keratoderma a ztrátu sluchu"]},"uk":{"name":"Синдром долонно-підошовної кератодермії-глухоти","synonyms":["Синдром долонно-підошовного гіперкератозу-глухоти","Синдром долонно-піднебінного гіперкератозу - втрати слуху","Синдром долонно-підошовної кератодермії - втрати слуху","Синдром PPK-глухоти"],"definition":"Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance."},"zh":{"name":"掌跖角化病- 聋综合征","synonyms":["表皮松解性角化过度症-听力损失综合征"]},"tr":{"name":"Palmoplantar keratoderma-sağırlık sendromu","synonyms":["PPK-sağırlık sendromu","Palmoplantar hiperkeratoz-sağırlık sendromu","Palmoplantar keratoderma-işitme kaybı sendromu","Palmoplantar hiperkeratoz-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"148350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"108018162"},{"source":"MONDO","code":"0007852","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536152","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835672","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3094","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"GJB2","name":"gap junction protein beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10633135[PMID]_17993581[PMID]","hgnc":"4284","ensembl":"ENSG00000165474","omim":"121011","loci":["13q12.11"]},{"symbol":"MT-TS1","name":"mitochondrially encoded tRNA-Ser (UCN) 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9450881[PMID]_11069477[PMID]","hgnc":"7497","ensembl":"ENSG00000210151","omim":"590080","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Mitochondrial inheritance"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-06-08","source":"23675785[PMID]","terms":[{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}