{"orpha":2723,"name":"Odontotrichomelic syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Freire-Maia syndrome"],"definition":"A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2723/","orphanet_url":"https://www.orpha.net/en/disease/detail/2723","names":{"fr":{"name":"Syndrome odonto-trichomélique","synonyms":["Syndrome de Freire-Maia"],"definition":"Maladie génétique rare caractérisée par une déficience intellectuelle, un retard de croissance, des difformités caractérisées par l'absence des membres supérieurs et inférieurs, une hypotrichose, une hypoplasie des ongles, des anomalies dentaires, des auricules anormaux, une hypoplasie des mamelons, un goitre et des anomalies du métabolisme de la tyrosine et/ou du tryptophane. Des cas d'hypogonadisme et de fente labiale ont également été rapportés. Aucun nouveau cas n'a été confirmé depuis 1970."},"de":{"name":"Odonto-trichomelisches Syndrom","synonyms":["Freire-Maia-Syndrom"],"definition":"Eine seltene genetische Erkrankung, die durch Intelligenzminderung, Wachstumsverzögerung, Fehlbildungen der oberen und unteren Gliedmaßen, Hypotrichose, hypoplastische Nägel, abnormes Gebiss, abnormale Ohrmuscheln, hypoplastische Brustwarzen, Schilddrüsenvergrößerung und Anomalien des Tyrosin- und/oder Tryptophanstoffwechsels gekennzeichnet ist. Es wurde auch über Hypogonadismus und Lippenspalten berichtet. Seit 1970 wurden keine neuen Fälle mehr bestätigt."},"es":{"name":"Síndrome odontotricomélico","synonyms":["Síndrome de Freire-Maia"],"definition":"Es una enfermedad de base genética poco frecuente caracterizada por discapacidad intelectual, retraso del crecimiento, ausencia de malformaciones de las extremidades superiores e inferiores, hipotricosis, hipoplasia ungueal, anomalías de la dentición y de los pabellones auriculares, mamilas hipoplásicas, agrandamiento de la tiroides y anomalías del metabolismo de la tirosina y/o del triptófano. También se ha descrito hipogonadismo y labio leporino. No se han confirmado nuevos casos desde 1970."},"it":{"name":"Sindrome odonto-tricomelica","synonyms":["Sindrome di Freire-Maia"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da disabilità intellettiva, ritardo della crescita, assenza di deformità degli arti superiori e inferiori, ipotricosi, ipoplasia delle unghie, anomalie della dentizione e dei padiglioni auricolari, ipoplasia dei capezzoli, ingrossamento della tiroide e anomalie del metabolismo della tirosina e/o del triptofano. I pazienti possono presentare anche ipogonadismo e labioschisi. Non sono stati descritti nuovi casi dopo il 1970."},"nl":{"name":"Odontotrichomelisch syndroom","synonyms":["Syndroom van Freire-Maia"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door intellectuele achterstand, groeiachterstand, deformiteiten met afwezigheid van bovenste en onderste ledematen, hypotrichose, hypoplastische nagels, abnormaal gebit, abnormale oorschelpen, hypoplastische tepels, vergroting van schildklier, en afwijkingen van tyrosine en/of tryptofaanmetabolisme. Hypogonadisme en gespleten lip werden ook reeds gerapporteerd. Er werden geen nieuwe gevallen bevestigd sinds 1970."},"pt":{"name":"Síndrome odonto-trico-mélico","synonyms":["Síndrome Freire-Maia"]},"pl":{"name":"Zespół zębowo-włosowo-kończynowy","synonyms":["Zespół Freire i Maia"]},"cs":{"name":"Odontotrichomelický syndrom","synonyms":["Freire-Maiaův syndrom"]},"uk":{"name":"Одонтотрихомелічний синдром","synonyms":["Синдром Фрейре-Майя"],"definition":"A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970."},"zh":{"name":"牙齿毛发四肢综合征","synonyms":["Freire-Maia综合征"]},"tr":{"name":"Odontotrikomelik sendromu","synonyms":["Freire-Maia sendromu"]}},"xrefs":[{"source":"OMIM","code":"273400","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":"1999951139"},{"source":"MONDO","code":"0010111","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535637","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930960","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2381","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]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"5432287[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5432287[PMID]"}],"phenotypes":null}