{"orpha":307766,"name":"Curly hair-acral keratoderma-caries syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CHAC syndrome","CHACS"],"definition":"Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-307766/","orphanet_url":"https://www.orpha.net/en/disease/detail/307766","names":{"fr":{"name":"Syndrome des cheveux frisés-kératodermie acrale-caries","synonyms":["CHACS","Syndrome CHAC"],"definition":"Le syndrome des cheveux frisés-kératodermie acrale-caries est une dysplasie ectodermique extrêmement rare caractérisée par la perte prématurée de cheveux secs, cassants et frisés, la perte prématurée des dents à cause de caries, une dystrophie unguéale avec épaississement des ongles des mains et des pieds, une kératodermie acrale et une hypohidrose. Les signes additionnels incluent des sourcils et des cils épars, un front dégarni et une région malaire aplatie. La sévérité des manifestations tend à augmenter avec l'âge."},"de":{"name":"Kraushaar-akrales Keratoderm-Karies-Syndrom","definition":"Eine extrem seltene ektodermale Dysplasie, die durch vorzeitigen Verlust von lockigem, brüchigem, trockenem Haar, vorzeitigen Zahnverlust durch Karies, Nageldystrophie mit Verdickung der Finger- und Zehennägel, akrale Keratodermie und Hypohidrosis gekennzeichnet ist. Zusätzlich sind spärliche Augenbrauen und Wimpern, eine zurückweichende Stirnhaargrenze und eine abgeflachte Malarregion assoziiert. Der Schweregrad der Merkmale scheint mit dem Alter zuzunehmen."},"es":{"name":"Síndrome de cabello rizado-queratodermia acral-caries","synonyms":["CHACS","Síndrome CHAC"],"definition":"El síndrome de cabello rizado-queratodermia acral-caries es un síndrome de displasia ectodérmica extremadamente infrecuente. Se caracteriza por la pérdida prematura de un cabello rizado, frágil y seco y de los dientes como consecuencia de una caries, distrofia ungueal con engrosamiento de las uñas de manos y pies, queratodermia acral e hipohidrosis. Se asocia asimismo con cejas y pestañas escasas, receso de la línea de implantación frontal del cabello y una región malar aplanada. La intensidad de estos hallazgos parece aumentar con la edad."},"it":{"name":"Sindrome capelli ricci-cheratoderma acrale-carie","synonyms":["CHACS","Sindrome CHAC"],"definition":"La sindrome capelli ricci-cheratoderma acrale-carie è una displasia ectodermica molto rara, caratterizzata dalla caduta prematura dei capelli, che sono ricci, fragili e secchi, dalla perdita prematura dei denti a causa delle carie, dalla distrofia delle unghie con ispessimento di quelle delle dita delle mani e dei piedi, dal cheratoderma acrale e dall'ipoidrosi. Inoltre le sopracciglia e le ciglia sono rade, l'attaccatura dei capelli è arretrata sulla fronte ed è appiattita la regione mascellare. I segni clinici peggiorano con l'età."},"nl":{"name":"Gekruld haar-acrale keratodermie-cariës-syndroom","synonyms":["CHAC-syndroom","CHACS"],"definition":"Krullend haar - acrale keratodermie - cariës-syndroom is een uiterst zeldzaam ectodermale dysplasie-syndroom dat gekarakteriseerd wordt door vroegtijdig verlies van gekruld, broos en droog haar, vroegtijdig verlies van tanden door cariës, nageldystrofie met verdikking van de vinger- en teennagels, acrale keratodermie en hypohidrose. Bijkomend zijn schaarse wenkbrauwen en wimpers, een terugtrekkende voorste haarlijn en platte jukbeenderen geassocieerd. De ernst van de kenmerken lijkt toe te nemen met de leeftijd."},"pt":{"name":"Síndrome de cabelo encaracolado-queratodermia acral-cáries dentárias"},"pl":{"name":"Zespół krecone włosy-keratodermia kończynowa-próchnica","synonyms":["CHACS","Zespół CHAC"]},"cs":{"name":"Syndrom zahrnující kudrnaté vlasy, akrální keratodermii a zubní kaz","synonyms":["CHAC syndrom","CHACS"]},"uk":{"name":"Синдром кучерявого волосся-акральної кератодермії-карієсу","synonyms":["Синдром CHAC","CHACS"],"definition":"Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age."},"zh":{"name":"卷发-肢端皮肤角化-龋齿综合征","synonyms":["卷发-肢端皮肤角化-龋齿综合征"],"definition":"卷发-肢端角化-皮龋综合征是一种极为罕见的外胚层发育不良综合征，其特征是头发卷曲、脆弱、干燥并过早脱落，龋齿导致牙齿过早脱落，指甲营养不良伴指甲增厚，肢端角化病和少汗症。此外，也可表现为眉毛和睫毛稀疏，前额发际线后退以及颧骨区域扁平，其严重程度随年龄的增长而增加。"},"tr":{"name":"Kıvırcık saç-akral keratoderma-karie sendromu","synonyms":["CHACS","CHAC sendromu"]}},"xrefs":[{"source":"OMIM","code":"607656","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":"1978482888"},{"source":"MONDO","code":"0011883","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536220","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843291","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10163","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":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"11453928[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11453928[PMID]"}],"phenotypes":null}