{"orpha":3368,"name":"Trigonocephaly-bifid nose-acral anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3368/","orphanet_url":"https://www.orpha.net/en/disease/detail/3368","names":{"fr":{"name":"Syndrome de trigonocéphalie-nez bifide-anomalies des extrémités","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une trigonocéphalie, une brachycéphalie, une dysmorphie faciale (front étroit, fentes palpébrales inclinées vers le haut, nez bulbeux avec une pointe légèrement bifide, macrostomie avec une lèvre supérieure mince, micrognathie) et diverses anomalies acrales, à savoir pouces larges, gros orteils, extrémités de doigts bulbeuses et ongles courts, laxité articulaire des mains et clinodactylie du cinquième doigt. Une petite taille, une hypotonie et un retard psychomoteur sévère sont également associés. Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Trigonozephalie-bifide Nase-akrale Anomalien-Syndrom","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Trigonozephalie, Brachyzephalie, Gesichtsdysmorphien (u. a. schmale Stirn, nach oben schräg verlaufende Lidspalten, kolbige und an der Spitze gekerbte Nas, Makrostomie mit dünner Oberlippe, Mikrognathie) und verschiedene akrale Anomalien wie breite Daumen, große Zehen, relativ breite Metatarsalia und Phalangen, Gelenklaxität der Hände und Klinodaktylie des fünften Fingers gekennzeichnet ist. Kleinwuchs, Hypotonie und schwere psychomotorische Verzögerung sind ebenfalls assoziiert. Seit 1991 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de trigonocefalia-nariz bífida-anomalías acrales","definition":"Es un síndrome dismórfico por múltiples anomalías congénitas, poco frecuente, caracterizado por trigono-braquicefalia, dismorfia facial (incluyendo frente estrecha, fisuras palpebrales inclinadas hacia arriba, nariz bulbosa con punta nasal ligeramente bífida, macrostomía con labio superior fino, micrognatia) y diversas anomalías en partes distales de extremidades (zonas acras), tales como pulgares anchos, dedos de los pies grandes, yemas de los dedos bulbosas con uñas cortas, laxitud articular de las manos y clinodactilia del quinto dedo de la mano. También se ha asociado talla baja, hipotonía y grave retraso psicomotor. No ha habido más casos descritos en la literatura desde 1991."},"it":{"name":"Sindrome da trigonocefalia-naso bifido-anomalie acrali","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da trigono-brachicefalia, dismorfismi facciali (fronte stretta, rime palpebrali oblique verso l'alto, naso globoso con punta lievemente bifida, macrostomia con labbro superiore sottile, micrognazia) e anomalie acrali variabili, che comprendono i pollici e le dita dei piedi larghi, le estremità delle dita delle mani globose con unghie corte, la lassità delle articolazioni della mano e la clinodattilia del quinto dito. I pazienti presentano anche bassa statura, ipotonia e grave ritardo dello sviluppo psicomotorio. Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Trigonocefalie - gespleten neus - acrale anomalieën-syndroom","definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom gekarakteriseerd door trigonobrachycefalie, faciale dysmorfie (inclusief smal voorhoofd, schuin naar boven hellende ooglidspleten, bolle neus met licht gespleten punt, macrostomie met dunne bovenlip, micrognathie), en verschillende acrale anomalieën, zoals brede duimen, grote tenen, trommelstokvingers, gewrichtslaxiteit van de handen en clinodactylie van de vijfde vinger. Kleine gestalte, hypotonie en ernstige psychomotorische achterstand zijn ook geassocieerd. Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de trigonocefalia-nariz bífido-anomalias acrais"},"pl":{"name":"Trigonocefalia - rozszczep nosa - anomalie kończyn"},"cs":{"name":"Syndrom zahrnující trigonocefalii, rozštěpený nos a akrální anomálie"},"uk":{"name":"Синдром тригоноцефалії-роздвоєного носа-аномалій черепа","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991."},"zh":{"name":"三角头畸形-鼻裂-肢端异常综合征"},"tr":{"name":"Trigonosefali-bifid burun-akral anomaliler sendromu"}},"xrefs":[{"source":"OMIM","code":"275595","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010154","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304969","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5126","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2063891[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2063891[PMID]"}],"phenotypes":null}