{"orpha":1401,"name":"CHAND syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Baughman syndrome","CHANDS","Curly hair-ankyloblepharon-nail dysplasia syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1401/","orphanet_url":"https://www.orpha.net/en/disease/detail/1401","names":{"fr":{"name":"Syndrome CHAND","synonyms":["CHANDS","Syndrome de Baughman","Syndrome de cheveux frisés-ankyloblépharon-dysplasie des ongles"],"definition":"Dysplasie ectodermique syndromique rare caractérisée par des cheveux clairsemés, laineux et bouclés en association avec un ankyloblépharon et une dysplasie unguéale. Parmi les autres signes cliniques rapportés figurent un frein lingual anormal, une langue bifide, des dépressions labiales, des adhérences entre les lèvres supérieures et inférieures, un hypertélorisme et un pont nasal plat, des synéchies alvéolaires et un vagin imperforé."},"de":{"name":"CHAND-Syndrom","synonyms":["Baughman-Syndrom","CHANDS","Kraushaar-Ankyloblepharon-Nageldysplasie-Syndrom"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch spärliches, wolliges, lockiges Haar, Ankyloblepharon und Nageldysplasie gekennzeichnet ist. Zu den weiteren berichteten Merkmalen gehören abnorme orale Frenula, bifide Zunge, Lippengrübchen, Verwachsungen zwischen Ober- und Unterlippe, Hypertelorismus und flacher Nasenrücken, alveoläre Synechien und imperforierte Vagina."},"es":{"name":"Síndrome CHAND","synonyms":["Cabellos rizados-anquilobléfaron-displasia ungueal","Síndrome de Baughman"],"definition":"Es un síndrome poco frecuente de displasia ectodérmica caracterizado por la asociación de cabello escaso, lanoso y rizado, anquilobléfaron y displasia ungueal. Otras características adicionales descritas incluyen frenillo oral anómalo, lengua bífida, depresiones labiales puntiformes, adherencias de los labios superior e inferior, hipertelorismo y puente nasal aplanado, sinequia alveolar y vagina imperforada."},"it":{"name":"Sindrome CHAND","definition":"Si tratta di una displasia ectodermica rara, caratterizzata da capelli radi, lanosi e ricci, anchiloblefaron e displasia delle unghie. I pazienti possono presentare anche frenuli anomali nella bocca, lingua bifida, fossette sulle labbra, aderenze tra il labbro superiore e inferiore, ipertelorismo, sella nasale piatta, sinechie alveolari e vagina imperforata."},"nl":{"name":"CHAND-syndroom","synonyms":["CHANDS","Krullend haar - ankyloblefaron - nageldysplasie-syndroom","Syndroom van Baughman"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekarakteriseerd door de associatie van schaars, wollig, gekruld haar, ankyloblefaron, en nageldysplasie. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer abnormale orale frenula, bifide tong, putjes in lip, adhesie tussen boven- en onderlip, hypertelorisme en platte neusbrug, alveolaire synechieën, en vaginale atresie."},"pt":{"name":"Síndrome CHAND","synonyms":["Síndrome Baughman","Síndrome cabelo encarapinhado-anquiloblefaro-displasia ungueal"]},"pl":{"name":"Zespół CHAND","synonyms":["CHANDS","Zespół Baughman","Zespół kręte włosy- ankyloblefaron - dysplastyczne paznokcie"]},"cs":{"name":"CHAND syndrom","synonyms":["CHANDS","Baughmanův syndrom","Syndrom zahrnující kudrnaté vlasy, ankyloblefaron a dysplázii nehtů"]},"uk":{"name":"Синдром CHAND","synonyms":["Синдром Баумана","CHANDS","Синдром кучерявого волосся-анкілофарон-нігтьової дисплазії"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina."},"zh":{"name":"CHAND综合征","synonyms":["卷发-睑缘粘连-甲发育不良综合征"]},"tr":{"name":"CHAND sendromu","synonyms":["CHANDS","Baughman sendromu","Kıvırcık saç-ankiloblefaron-tırnak displazisi sendromu"]}},"xrefs":[{"source":"OMIM","code":"214350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1518287158"},{"source":"MONDO","code":"0008959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538074","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406733","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[{"symbol":"RIPK4","name":"receptor interacting serine/threonine kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28940926[PMID]_25098893[PMID]","hgnc":"496","ensembl":"ENSG00000183421","omim":"605706","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28940926[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-25","source":"2012123[PMID]_490586[PMID]_8209899[PMID]_26129644[PMID]_28940926[PMID]_23610050[PMID]","terms":[{"hpo":"HP:0009755","label":"Ankyloblepharon","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002212","label":"Curly hair","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200160","label":"Agenesis of maxillary incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006349","label":"Agenesis of permanent teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002710","label":"Commissural lip pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030011","label":"Imperforate hymen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004704","label":"Short fifth metatarsal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Excluded (0%)","criteria":null}]}}