{"orpha":3026,"name":"Radial ray hypoplasia-choanal atresia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Goldblatt-Viljoen syndrome"],"definition":"A rare nose and cavum anomaly characterized by variable defects of the radial ray, concurrent choanal malformations and esotropia. Patients predominantly present with left radial ray hypoplasia, however the spectrum of radial ray involvement may range from totally absent radius, first metacarpal, and phalangeal bones to hypoplastic carpal and metacarpal bones and a triphalangeal thumb. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3026/","orphanet_url":"https://www.orpha.net/en/disease/detail/3026","names":{"fr":{"name":"Syndrome d'hypoplasie du rayon radial-atrésie des choanes","synonyms":["Syndrome de Goldblatt-Viljoen"],"definition":"Anomalie rare du nez et du cavum caractérisée par des défauts variables du rayon radial associées à des malformations choanales et une ésotropie. Les patients présentent principalement une hypoplasie du rayon radial gauche, mais le spectre de l'atteinte du rayon radial peut aller d'une absence totale du radius, du premier métacarpien et des phalanges à une hypoplasie des os du carpe et du métacarpe et une triphalangie du pouce. Aucun nouveau cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Radiushypoplasie-Choanalatresie-Syndrom","synonyms":["Goldblatt-Viljoen-Syndrom"],"definition":"Eine seltene Anomalie der Nase und des Nasenraums, die durch variable Defekte des Radiusstrahls, begleitende Choanal Fehlbildungen und Esotropie gekennzeichnet ist. Die Patienten weisen überwiegend eine Hypoplasie des linken Radius auf, jedoch kann das Spektrum der Beteiligung des Radius von einem vollständigen Fehlen des Radius, des ersten Mittelhandknochens und der Fingerknochen bis hin zu einer Hypoplasie der Handwurzel- und Mittelhandknochen und einem dreigliedrigen Daumen reichen. Seit 1987 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hipoplasia del eje radial-atresia de coanas","synonyms":["Síndrome de Goldblatt-Viljoen"],"definition":"Es una anomalía poco frecuente de la nariz y de la nasofaringe caracterizada por defectos variables del radio radial, malformaciones coanales concurrentes y esotropía. Los pacientes presentan predominantemente hipoplasia del radio radial izquierdo; sin embargo, el espectro de afectación del radio radial puede variar desde la ausencia total del radio, del primer metacarpiano y de las falanges hasta la hipoplasia de los huesos carpianos y metacarpianos, y un pulgar trifalángico. No se han descrito más casos en la literatura desde 1987."},"it":{"name":"Ipoplasia del radio - atresia delle coane","synonyms":["Sindrome di Goldblatt-Viljoen"]},"nl":{"name":"Hypoplasie van radiale straal - choane atresie-syndroom","synonyms":["Syndroom van Goldblatt-Viljoen"],"definition":"Een zeldzame anomalie van neus en neusholte, gekenmerkt door variabele defecten van radius, gelijktijdige choanale malformaties en esotropie. Patiënten presenteren zich vooral met hypoplasie van linker radius, maar het spectrum van betrokkenheid van de radius kan gaan van volledige afwezigheid van radius, eerste metacarpaal en falangen tot hypoplastische carpalen en metacarpalen en een trifalangeale duim. Sinds 1987 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hipoplasia do eixo radial-atresia das coanas","synonyms":["Síndrome Goldblatt-Viljoen"],"definition":"Hipoplasia do raio radial - atresia coanal é uma síndrome extremamente rara caracterizada pela hipoplasia do raio radial, atresia das coanas e estrabismo convergente."},"pl":{"name":"Hipoplazja kości promieniowej - atrezja nozdrzy tylnych","synonyms":["Zespół Goldblatta i Viljoena"]},"cs":{"name":"Syndrom zahrnující hypoplázii radiálního paprsku a atrézii choan","synonyms":["Goldblattův-Viljoenův syndrom","Goldblatt-Viljoenův syndrom"]},"uk":{"name":"Синдром гіпоплазії променевої кістки-хоанальної атрезії","synonyms":["Синдром Гольдблатта-Вільоена"],"definition":"An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus."},"zh":{"name":"桡侧列发育不全-后鼻孔综合征","synonyms":["Goldblatt-Viljoen综合征"]},"tr":{"name":"Radyal ışın hipoplazisi-koanal atrezi sendromu","synonyms":["Goldblatt-Viljoen sendromu"]}},"xrefs":[{"source":"OMIM","code":"179270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008358","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537280","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931464","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4627","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3425633[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3425633[PMID]"}],"phenotypes":null}