{"orpha":521308,"name":"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521308/","orphanet_url":"https://www.orpha.net/en/disease/detail/521308","names":{"fr":{"name":"Syndrome de dysplasie frontonasale-nez bifide-anomalies des membres supérieurs","definition":"Dysplasie frontonasale syndromique rare caractérisée par une dysmorphie faciale caractéristique incluant un hypertélorisme, des fentes palpébrales en amande, une malformation nasale et une racine large, une pointe nasale déprimée ou absente, ainsi qu'une asymétrie et une absence partielle des os nasaux et les commissures des lèvres inclinées vers le bas. Parmi les autres signes cliniques rapportés figurent des malformations des membres (syndrome de Poland, l'agénésie des membres transversaux et les malformations des mains et des pieds, telles que la camptodactylie, l'oligodactylie, la clinodactylie et la syndactylie), l'encéphalocèle frontonasale, l'atrésie des choanes, les malformations congénitales rénales/cardiaques et l'agénésie du corps calleux."},"de":{"name":"Frontonasale Dysplasie-bifide Nase-Anomalien der oberen Extremitäten-Syndrom","definition":"Eine syndromale Form der fronto-nasalen Dysplasie, die durch ausgeprägte Gesichtsdysmorphien gekennzeichnet ist, darunter Hypertelorismus, mandelförmige Lidspalten, Nasenfehlbildungen mit faltigem Nasenrücken, niedergedrückter oder fehlender Nasenspitze, Asymmetrie und teilweises Fehlen der Nasenknochen sowie nach unten gebogene Mundwinkel. Weitere gemeldete Manifestationen sind Gliedmaßenanomalien (z. B. Poland-Anomalie, Agenesie der transversalen Gliedmaßen und Anomalien der Hände und Füße, wie Kamptodaktylie, Oligodaktylie, Klinodaktylie und Syndaktylie), frontonasale Enzephalozele, Choanalatresie, kongenitale Fehlbildungen der Nieren und des Herzens sowie eine Agenesie des Corpus callosum."},"es":{"name":"Síndrome de displasia frontonasal-nariz bífida-anomalías de las extremidades superiores","definition":"Es una displasia frontonasal sindrómica poco frecuente caracterizada por rasgos faciales dismórficos distintivos, incluyendo hipertelorismo, fisuras palpebrales almendradas, deformidad nasal con cresta arrugada, punta nasal deprimida o ausente, asimetría y ausencia parcial de los huesos nasales y comisuras de la boca inclinadas hacia abajo. Otras manifestaciones adicionales descritas son anomalías de las extremidades (p. ej., anomalía Poland, agenesia transversal de las extremidades y anomalías de las manos y los pies, tales como camptodactilia, oligodactilia, clinodactilia y sindactilia), encefalocele frontonasal, atresia de coanas, malformaciones renales/cardíacas congénitas y agenesia del cuerpo calloso"},"it":{"name":"Sindrome displasia frontonasale - naso bifido - anomalie degli arti superiori","definition":"Si tratta di una displasia frontonasale sindromica rara, caratterizzata da dismorfismi facciali tipici (ipertelorismo, rime palpebrali a mandorla, naso deformato con sella corrugata, punta infossata o assente, asimmetria e agenesia parziale delle ossa nasali, e angoli della bocca rivolti verso il basso). I pazienti possono presentare anche anomalie degli arti (anomalia di Poland, agenesia trasversale degli arti e anomalie delle mani e dei piedi, come la camptodattilia, l'oligodattilia, la clinodattilia e la sindattilia), encefalocele fronto-nasale, atresia delle coane, malformazioni renali/cardiache congenite e agenesia del corpo calloso."},"nl":{"name":"Frontonasale dysplasie - bifide neus - anomalieën van bovenste ledematen-syndroom","definition":"Een zeldzame syndromale frontonasale dysplasie, gekarakteriseerd door typische faciale dysmorfe kenmerken, waaronder hypertelorisme, amandelvormige ooglidspleten, deformiteit van neus met geplooide neusrug, ingedeukte of afwezige neuspunt, en asymmetrie en gedeeltelijke afwezigheid van neusbeenderen, en naar beneden gekeerde mondhoeken. Bijkomende manifestaties die weerden gerapporteerd, zijn anomalieën van ledematen (e.g. Poland-anomalie, dwarse agenesie van ledemaat, en anomalieën van handen en voeten, zoals camptodactylie, oligodactylie, clinodactylie, en syndactylie), frontonasale encefalocele, choanale atresie, congenitale malformaties van nier/hart, en agenesie van corpus callosum."},"pt":{"name":"Síndrome de displasia frontonasal-nariz bífido-anomalias dos membros superiores"},"pl":{"name":"Zespół dysplazji czołowo-nosowej-rozszczepu nosa-wad kończyny górnej"},"cs":{"name":"Syndrom zahrnující frontonazální dysplázii, rozštěp nosu a anomálie horní končetiny"},"uk":{"name":"Синдром фронтоназальної дисплазії-роздвоєння носа та верхніх кінцівок","definition":"A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis."},"zh":{"name":"额鼻发育不良-鼻裂-上肢异常综合征"},"tr":{"name":"Frontonazal displazi-bifid burun-üst ekstremite anomalileri sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035018","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567892","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"29136349[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29136349[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-19","source":"29136349[PMID]_15166289[PMID]","terms":[{"hpo":"HP:0010939","label":"Abnormal nasal bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000456","label":"Bifid nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008115","label":"Clinodactyly of the 3rd toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007330","label":"Frontoethmoidal encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}