{"orpha":99672,"name":"Fried's tooth and nail syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99672/","orphanet_url":"https://www.orpha.net/en/disease/detail/99672","names":{"fr":{"name":"Syndrome dent et ongle de Fried","definition":"Syndrome rare de dysplasie ectodermique caractérisé par une hypodontie de la dentition primaire ou permanente, et une dysplasie unguéale se manifestant par une dystrophie des ongles des mains et des pieds, et des plaques unguéales fines et plates. Les autres signes et symptômes peuvent inclure des cheveux clairsemés, fins, dont la pousse est ralentie, des sourcils fins et clairsemés, des anomalies du développement de la mâchoire, une lèvre inférieure éversée, une peau sèche et une atteinte des glandes sudoripares."},"de":{"name":"Zahn-Nagel-Syndrom Typ Fried","definition":"Ein seltenes, ektodermales Dysplasie-Syndrom, das gekennzeichnet ist durch Hypodontie des Milch- oder bleibenden Gebisses in Kombination mit einer Nageldysplasie (dystrophische Finger- und Zehennägel und dünne, flache Nagelplatten). Weitere Manifestationen umfassen spärliches, langsam wachsendes und feines Haar von Kopf und Augenbrauen, eine unzureichende Kieferentwicklung, eine evertierte Unterlippe, trockene Haut und Beteiligung der Schweißdrüsen."},"es":{"name":"Síndrome diente-uña de Fried","definition":"Es una displasia ectodérmica poco frecuente caracterizada por hipodontia en la dentición primaria o permanente y displasia ungueal que se manifiesta como uñas distróficas en los pies y las manos y placas ungueales planas y delgadas. Otros signos y síntomas adicionales pueden incluir cabello fino, escaso y de crecimiento lento, cejas finas y poco pobladas, escaso desarrollo mandíbular, labio inferior evertido, piel seca y afectación de las glándulas sudoríparas."},"it":{"name":"Sindrome dei denti e delle unghie di Fried","definition":"È una displasia ectodermica rara, caratterizzata da ipodontia della dentizione decidua o permanente, associata a displasia delle unghie, che esordisce con distrofia delle unghie delle mani e dei piedi ed appiattimento e assottigliamento della lamina ungueale. Può associarsi a capelli radi, sottili e a crescita lenta, sopracciglia rade e sottili, scarso sviluppo della mandibola, labbro inferiore anteverso, cute secca e interessamento delle ghiandole sudoripare."},"nl":{"name":"Tand- en nagelsyndroom van Fried","definition":"Een zeldzaam ectodermale dysplasiesyndroom gekarakteriseerd door hypodontie van het melkgebit of van het blijvend gebit, en nageldysplasie die zich manifesteert als dystrofische vinger- en teennagels, en dunne, platte nagelplaten. Mogelijke bijkomende tekenen en symptomen zijn onder meer schaars, traag groeiend, fijn hoofdhaar, dunne en schaarse wenkbrauwen, ondermaatse ontwikkeling van de kaak, geëverteerde onderlip, droge huid, en betrokkenheid van zweetklieren."},"pt":{"name":"Síndrome Dente e unhas de Fried"},"pl":{"name":"Zespół zęba i paznokcia Frieda"},"cs":{"name":"Friedův syndrom zubů a nehtů"},"uk":{"name":"Синдром зубів і нігтів Фріда","definition":"A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement."},"zh":{"name":"Fried牙齿和指甲综合症","definition":"Fried's 牙齿-指甲综合征一种罕见的外胚层发育不良综合征，特征是乳牙或恒牙发育不良，指甲发育不良（表现为指甲和脚趾甲营养不良，指甲板薄而平）。其他体征和症状可能包括稀疏而生长缓慢的细小头皮毛发、稀疏的眉毛、下颌发育不良、下唇外翻、皮肤干燥和汗腺受累。"},"tr":{"name":"Fried diş ve tırnak sendromu"}},"xrefs":[{"source":"OMIM","code":"602401","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011219","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406715","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"856958[PMID]_9450885[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_856958[PMID]_9450885[PMID]"}],"phenotypes":null}