{"orpha":2342,"name":"Haim-Munk syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome","Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome","Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome"],"definition":"Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2342/","orphanet_url":"https://www.orpha.net/en/disease/detail/2342","names":{"fr":{"name":"Syndrome de Haim-Munk","synonyms":["Syndrome d'hyperkératose palmoplantaire-périodontopathie-onychogrypose","Syndrome de kératodermie palmoplantaire-périodontopathie-onychogrypose"],"definition":"Le syndrome de Haim-Munk (SHM) est caractérisé par une hyperkératose palmoplantaire, une parodontite aiguë précoce, une onychogrypose, des pieds plats, une arachnodactylie et une acro-ostéolyse."},"de":{"name":"Haim-Munk-Syndrom","synonyms":["Keratosis palmoplantaris - Parodontopathie - Onychogryposis","Keratosis palmoplantaris diffusa mit Periodontopathie und Onychogrypose","Palmoplantarhyperkeratose - Parodontopathie - Onychogryposis"],"definition":"Das Haim-Munk-Syndrome (HMS) ist gekennzeichnet durch palmoplantare Hyperkeratose, schwere und früh beginnende Periodontitis, Onychogrypose, Pes planus, Arachnodaktylie und Akroosteolyse."},"es":{"name":"Síndrome de Haim-Munk","synonyms":["Hiperqueratosis palmoplantar-periodontopatía-onicogriposis","Queratodermia palmoplantar-periodontopatía-onicogriposis","Queratosis palmoplantar-periodontopatía-onicogriposis"],"definition":"El síndrome de Haim-Munk (SHM) se caracteriza por: hiperqueratosis palmoplantar, periodontitis grave de aparición temprana, onicogriposis, pies plano, aracnodactilia y acroosteolisis."},"it":{"name":"Sindrome di Haim-Munk","synonyms":["Cheratoderma palmoplantare - periodontopatia - onicogriposi","Cheratosi palmoplantare - periodontopatia - onicogriposi","Ipercheratosi palmoplantare - periodontopatia - onicogriposi"]},"nl":{"name":"Syndroom van Haim-Munk","synonyms":["Haim-Munksyndroom","Hyperkeratose van handpalm of voetzool - periodontopathie - onychogrypose-syndroom","Keratodermie van handpalm of voetzool - periodontopathie - onychogrypose-syndroom","Keratosis palmoplantaris - periodontopathie - onychogrypose-syndroom","Palmoplantaire hyperkeratose - periodontopathie - onychogrypose-syndroom","Palmoplantaire keratodermie - periodontopathie - onychogrypose-syndroom"],"definition":"Syndroom van Haim-Munk (HMS) wordt gekenmerkt door palmoplantaire hyperkeratose, ernstige en vroeg optredende parodontitis, onychogrypose, platvoet, arachnodactylie, en acro-osteolyse."},"pt":{"name":"Síndrome Haim-Munk","synonyms":["Queratose palmo-plantar-periodontopatia-onicogripose"]},"pl":{"name":"Zespół Haima i Munka","synonyms":["Hiperkeratoza dłoni i stóp - periodontopatia - onychogrypoza","Rogowiec dłoni i stóp - periodontopatia - onychogrypoza","Rogowiec dłoni i stóp - periodontopatia - onychogrypoza"]},"cs":{"name":"Haimův-Munkův syndrom","synonyms":["Syndrom zahrnující palmoplantární keratózu, periodontopatii a onychogrypózu","Syndrom zahrnující palmoplantární hyperkeratózu, periodontopatii a onychogrypózu","Syndrom zahrnující palmoplantární keratoderma, periodontopatii a onychogrypózu","Haim-Munkův syndrom"]},"uk":{"name":"Синдром Хаїма-Мунка","synonyms":["Синдром долонно-піднебінного кератозу-періодонтопатії-оніхогрипозу","Синдром долонно-підошовного гіперкератозу-періодонтопатії-оніхогрипозу","Синдром долонно-підошовної кератодермії-періодонтопатії-оніхогрипозу"],"definition":"Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis."},"zh":{"name":"Haim-Munk综合征","synonyms":["掌跖角化过度-牙周病-甲弯曲综合征"]},"tr":{"name":"Haim-Munk sendromu","synonyms":["Keratoz palmoplantaris-periodontopati-onikogripozis sendromu","Palmoplantar keratoderma-periodontopati-onikogripozis sendromu","Palmoplantar hiperkeratoz-periodontopati-onikogripozis sendromu"]}},"xrefs":[{"source":"OMIM","code":"245010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009491","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855627","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"44","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":309340,"name":"Disorder of lysosomal-related organelles","classifications":[150,156]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[{"symbol":"CTSC","name":"cathepsin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10662807[PMID]","hgnc":"2528","ensembl":"ENSG00000109861","omim":"602365","loci":["11q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"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":"2025-02-03","source":"21760678[PMID]_34603725[PMID]_31846207[PMID]","terms":[{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001870","label":"Acroosteolysis of distal phalanges (feet)","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009771","label":"Osteolytic defects of the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410027","label":"Alveolar bone loss around teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005830","label":"Flexion contracture of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001803","label":"Nail pits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null}]}}