{"orpha":1390,"name":"Night blindness-skeletal anomalies-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hunter-Thompson-Reed syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1390/","orphanet_url":"https://www.orpha.net/en/disease/detail/1390","names":{"fr":{"name":"Syndrome de cécité nocturne-anomalies squelettiques-dysmorphie faciale","synonyms":["Syndrome de Hunter-Thompson-Reed"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rares d'origine génétique caractérisées par une progression très lente de la cécité nocturne ainsi que des anomalies squelettiques (épaules tombantes, hyperlaxité des articulations, anomalies radiologiques mineures) et un visage particulier (anomalies périorbitaires, hypoplasie malaire, rétrognathie). Les autres signes cliniques sont une myopie et des électrorétinogrammes plats. Aucun cas n'a été décrit dans la littérature depuis 1979."},"de":{"name":"Nachtblindheit-Skelettanomalien-Dysmorphien-Syndrom","synonyms":["Hunter-Thompson-Reed-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das gekennzeichnet ist durch eine langsam fortschreitende Nachtblindheit, Skelettanomalien (hängende Schultern, überstreckbare Gelenke, geringfügige radiologische Anomalien) und charakteristische Gesichtszüge (periorbitale Anomalien, flache Wangen, Retrognathie). Zu den weiteren Symptomen gehören Myopie und erloschenes Elektroretinogramm. Seit 1979 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ceguera nocturna-anomalías esqueléticas-dismorfia","definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por ceguera nocturna lentamente progresiva, anomalías esqueléticas (hombros caídos, hiperextensibilidad articular, anomalías radiológicas menores) y rasgos faciales característicos (anomalías periorbitarias, aplanamiento malar, retrognatia). Otras manifestaciones adicionales incluyen miopía y electrorretinograma extinguido. No ha habido más descripciones en la literatura desde 1979."},"it":{"name":"Cecità notturna - anomalie scheletriche - dismorfismi","synonyms":["Sindrome di Hunter-Thompson-Reed"]},"nl":{"name":"Nachtblindheid - skeletale anomalieën - dysmorfie-syndroom","synonyms":["Syndroom van Hunter-Thompson-Reed"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door traag progressieve nachtblindheid, skeletanomalieën (afhangende schouders, gewrichtshypermobiliteit, minieme radiologische anomalieën), en typische gelaatskenmerken (periorbitale anomalieën, platte jukbeenderen, retrognathie). Bijkomende manifestaties zijn onder meer myopie en uitgedoofd elektroretinogram. Er zijn geen verdere beschrijvingen in de literatuur sinds 1979."},"pt":{"name":"Síndrome de cegueira noturna-anomalias esqueléticas-dismorfia","synonyms":["Síndrome Hunter-Thomson-Reed"]},"pl":{"name":"Ślepota nocna - anomalie szkieletowe - dysmorfizm","synonyms":["Zespół Huntera, Thompsona i Reeda"]},"cs":{"name":"Syndrom zahrnující noční slepotu, anomálie skeletu a dysmorfismus","synonyms":["Hunterův-Thompsonův-Reedův syndrom","Hunter-Thompson-Reedův syndrom"]},"uk":{"name":"Синдром нічної сліпоти - скелетних аномалії - дисморфізму","synonyms":["Синдром Хантера-Томпсона-Ріда"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979."},"zh":{"name":"夜盲-骨骼异常-畸形综合征","synonyms":["Hunter-Thompson-Reed综合征"]},"tr":{"name":"Gece körlüğü-iskelet anomalileri-dismorfizm sendromu","synonyms":["Hunter-Thompson-Reed sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015326","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679607","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3994","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":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"314984 [PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_314984 [PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null}]}}