{"orpha":3353,"name":"Trichodermodysplasia-dental alterations syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Pinheiro-Freire Maia-Miranda syndrome"],"definition":"Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3353/","orphanet_url":"https://www.orpha.net/en/disease/detail/3353","names":{"fr":{"name":"Syndrome tricho-dermo-dentaire","synonyms":["Syndrome de Pinheiro-Freire-Maia-Miranda"],"definition":"Le syndrome tricho-dermo-dentaire est un syndrome de dysplasie ectodermique génétique rare caractérisé par des cheveux fins, épars et cassants, des cils, des sourcils, des poils axillaires et pubiens épars, une éruption retardée des dents déciduales, et une hypodontie des dents déciduales et définitives. Sont aussi associées une kératose palmoplantaire légère, des taches « café au lait » sur le dos, une légère dystrophie unguéale et une déviation tibiale des orteils. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1986."},"de":{"name":"Trichodermodysplasie mit Zahnveränderungen","synonyms":["Pinheiro-Freire-Maia-Miranda-Syndrom"],"definition":"Das Pinheiro-Freire-Maia-Miranda-Syndrom ist eine seltene, genetisch bedingte ektodermale Dysplasie charakterisiert durch spärliches, dünnes, brüchiges Haupthaar sowie spärliche Augenbrauen und Wimpern, Achsel- und Schambehaarung, verzögerter Durchbruch der Milchzähne und Hypodontie beider Gebisse. Eine milde palmoplantare Keratose, Cafe-au-lait-Flecken am Rücken, eine milde Dystrophie der Nägel und eine tibiale Abwinklung der Zehen werden assoziiert. Seit 1986 gab es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de tricodermodisplasia-alteraciones dentales","synonyms":["Síndrome de Pinheiro-Freire-Maia-Miranda"],"definition":"El síndrome de tricodermodisplasia-alteraciones dentales es un síndrome genético poco frecuente de displasia ectodérmica caracterizado por un cabello fino, escaso y quebradizo, así como cejas, pestañas, vello púbico y axilar escasos, retraso de la erupción de los dientes deciduos e hipodoncia de ambas denticiones. También se ha asociado a queratosis palmoplantar leve, manchas café con leche en la espalda, distrofia ungueal leve y desviación tibial de los dedos de los pies. No se han descrito nuevos casos en la literatura desde 1986."},"it":{"name":"Sindrome trico-dermo-dentale","synonyms":["Sindrome di Pinheiro-Freire-Maia-Miranda"],"definition":"La tricodermodisplasia-anomalie dentali è una displasia ectodermica genetica rara, caratterizzata da capelli radi, sottili e fragili, sopracciglia, ciglia, peli ascellari e pubici radi, ritardo nell'eruzione dei denti decidui e ipodontia di entrambe le dentizioni. Altri segni sono la cheratosi palmo-plantare lieve, le macchie caffè-latte sulla schiena, la distrofia lieve delle unghie e la deviazione tibiale delle dita dei piedi. Non sono stati descritti nuovi casi dopo il 1986."},"nl":{"name":"Trichodermodysplasie - dentale veranderingen-syndroom","synonyms":["Syndroom van Pinheiro-Freire Maia-Miranda"],"definition":"Trichodermodysplasie - dentale veranderingen-syndroom is een zeldzaam, genetisch ectodermale dysplasie-syndroom dat wordt gekarakteriseerd door schaars, dun en broos hoofdhaar, alsook schaarse wenkbrauwen, wimpers en oksel- en schaamhaar, laat uitkomen van melktanden, en hypodontie van beide gebitten. Milde palmoplantaire keratose, café-au-lait-vlekken op de rug, milde nageldystrofie, en afbuiging van de tenen zijn ook geassocieerd. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de trico-dermodisplasia-alterações dentárias","synonyms":["Síndrome Pinheiro-Freire Maia-Miranda"]},"pl":{"name":"Dysplazja włosów i skóry - zaburzenia uzębienia","synonyms":["Zespół Pinheiro, Freire Maia i Miranda"]},"cs":{"name":"Syndrom zahrnující trichodermodysplázii a dentální alteraci","synonyms":["Pinheirové-Freire Maiaův-Mirandaův syndrom","Pinheiro-Freire Maia-Mirandaův syndrom"]},"uk":{"name":"Синдром триходермодисплазії-зубних аномалій","synonyms":["Синдром Пінейро-Фрейре-Майя-Міранда"],"definition":"Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986."},"zh":{"name":"毛皮肤发育不良-牙齿蚀变综合征","synonyms":["Pinheiro-Freire Maia-Miranda综合征"]},"tr":{"name":"Trikodermodisplazi-dental değişiklik sendromu","synonyms":["Pinheiro-Freire Maia-Miranda sendromu"]}},"xrefs":[{"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":"1253116704"},{"source":"MONDO","code":"0018061","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537402","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931485","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4369","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":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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3720011[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3720011[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009720","label":"Adenoma sebaceum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null}]}}