{"orpha":627,"name":"Nance-Horan syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare X-linked dominant multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataracts with microcornea, dental anomalies, and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-627/","orphanet_url":"https://www.orpha.net/en/disease/detail/627","names":{"fr":{"name":"Syndrome de Nance-Horan","definition":"Anomalies congénitales multiples/syndrome dysmorphique lié à l'X, caractérisé par des cataractes congénitales avec microcornée, des anomalies dentaires et une dysmorphie faciale."},"de":{"name":"Nance-Horan-Syndrom","definition":"Ein seltenes X-chromosomal-dominantes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch angeborene Katarakte mit Mikrokornea, Zahnanomalien und Gesichtsdysmorphien gekennzeichnet ist."},"es":{"name":"Síndrome de Nance-Horan","definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, poco frecuente y de herencia dominante ligada al cromosoma X, caracterizado por cataratas congénitas con microcórnea, anomalías dentales y dismorfia facial."},"it":{"name":"Sindrome di Nance-Horan"},"nl":{"name":"Syndroom van Nance-Horan","definition":"Een zeldzaam X-gebonden dominant syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door congenitale cataracten met microcornea, gebitsanomalieën, en faciale dysmorfie."},"pt":{"name":"Síndrome Nance-Horan"},"pl":{"name":"Zespół Nance'a i Horana","definition":"Rzadki, dziedziczony w sposób dominujący sprzężony z chromosomem X zespół mnogich wad wrodzonych / zespół dysmorficzny charakteryzujący się wrodzoną zaćmą z mikrorogówką, anomaliami zębów i dysmorfią twarzy."},"cs":{"name":"Nanceův-Horanové syndrom","synonyms":["Nanceův syndrom","Nance-Horanové syndrom"]},"uk":{"name":"Синдром Нанса-Горана","definition":"Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism."},"zh":{"name":"Nance-Horan综合征"},"tr":{"name":"Nance-Horan sendromu"}},"xrefs":[{"source":"OMIM","code":"302350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"938299000"},{"source":"MONDO","code":"0010545","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538336","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796085","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7161","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98649,"name":"Dentocutaneous disease with cataract","classifications":[156,189]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"NHS","name":"NHS actin remodeling regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20332100[PMID]","hgnc":"7820","ensembl":"ENSG00000188158","omim":"300457","loci":["Xp22.2-p22.13"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":424.0,"area":"Worldwide","status":"Validated","source":"27616609[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27616609[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-06-08","source":"41236159 [PMID]_37221585[PMID]","terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012413","label":"Notched primary central incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033782","label":"Semilunar tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000699","label":"Diastema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011092","label":"Mulberry molar","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}