{"orpha":1276,"name":"Brachydactyly-arterial hypertension syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bilginturan brachydactyly","Bilginturan syndrome","Brachydactyly type E, with short stature and hypertension"],"definition":"A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1276/","orphanet_url":"https://www.orpha.net/en/disease/detail/1276","names":{"fr":{"name":"Syndrome de brachydactylie-hypertension artérielle","synonyms":["Brachydactylie type E avec petite taille et hypertension","Syndrome de Bilginturan"],"definition":"Syndrome de brachydactylie rare d'origine génétique caractérisé par l'association d'une brachydactylie type E et d'une hypertension artérielle (causée par des anomalies vasculaires ou neurovasculaires), ainsi que par d'autres signes cliniques, tels qu'une petite taille et un faible poids à la naissance (en comparaison avec les individus non atteints d'une même famille), un aspect trapu et un visage rond. L'hypertension artérielle apparaît souvent au cours de l'enfance et en l'absence de traitement, la plupart des patients développent un accident vasculaire cérébral autour de 50 ans."},"de":{"name":"Brachydaktylie-arterielle Hypertension-Syndrom","synonyms":["Bilginturan-Brachydaktylie","Bilginturan-Syndrom","Brachydaktylie Typ E mit Kleinwuchs und Bluthochdruck"],"definition":"Ein seltenes genetisch bedingtes Brachydaktylie-Syndrom, das durch eine Kombination von Brachydaktylie Typ E und Bluthochdruck (aufgrund vaskulärer oder neurovaskulärer Anomalien) sowie durch Kleinwuchs und niedriges Geburtsgewicht (im Vergleich zu nicht betroffenen Familienmitgliedern), einen untersetzten Körperbau und ein rundes Gesicht gekennzeichnet ist. Bluthochdruck tritt häufig in der Kindheit auf."},"es":{"name":"Síndrome de braquidactilia-hipertensión arterial","synonyms":["Braquidactilia de Bilginturan","Braquidactilia tipo E con talla baja e hipertensión","Síndrome de Bilginturan"],"definition":"Es un síndrome poco frecuente de braquidactilia de origen genético caracterizado por la asociación de braquidactilia de tipo E con hipertensión (causada por anomalías vasculares o neurovasculares) y rasgos adicionales tales como talla baja y bajo peso al nacer (en comparación con los miembros no afectados de la familia), complexión recia y cara redondeada. La aparición de la hipertensión se suele producir en la infancia."},"it":{"name":"Sindrome da brachidattilia-ipertensione arteriosa","synonyms":["Brachidattilia di Bilginturan","Brachidattilia, tipo E, con bassa statura e ipertensione","Sindrome di Bilginturan"],"definition":"La brachidattilia-ipertensione arteriosa è una sindrome genetica rara con brachidattilia, caratterizzata dall'associazione tra la brachidattilia di tipo E (si veda questo termine) e l'ipertensione (causata da anomalie vascolari o neurovascolari), e da altri segni associati a bassa statura e basso peso alla nascita (se confrontati con i familiari non affetti), corporatura robusta e viso arrotondato. L'ipertensione esordisce spesso nell'infanzia e, in assenza di trattamento, la maggior parte dei pazienti è colpita da ictus prima dei 50 anni."},"nl":{"name":"Brachydactylie - arteriële hypertensie-syndroom","synonyms":["Brachydactylie type E met kleine gestalte en hypertensie","Brachydactylie van Bilginturan","Syndroom van Bilginturan"],"definition":"Een zeldzaam, genetisch syndroom van brachydactylie, gekenmerkt door de associatie van brachydactylie type E met hypertensie (door vasculaire of neurovasculaire anomalieën), alsook de bijkomende kenmerken kleine gestalte en laag geboortegewicht (in vergelijking met niet-getroffen familieleden), gedrongen lichaamsbouw en rond gelaat. Aanvang van hypertensie treedt vaak op in de kindertijd."},"pt":{"name":"Síndrome de braquidactilia-hipertensão arterial","synonyms":["Braquidactilia Bilginturan","Braquidactilia tipo E, com baixa estatura e hipertensão","Síndrome Bilginturan"]},"pl":{"name":"Zespół brachydaktylii i nadciśnienia tętniczego","synonyms":["Brachydaktylia Bilginturana","Brachydaktylia typu E z niskim wzrostem i nadciśnieniem","Zespół Bilginturana"],"definition":"Rzadki genetyczny zespół brachydaktylii charakteryzujący się powiązaniem brachydaktylii typu E z nadciśnieniem tętniczym (spowodowanym anomaliami naczyniowymi lub nerwowo-naczyniowymi), jak również dodatkowymi cechami, w tym niskiem wzrostem i niską masą urodzeniową (w porównaniu z zdrowymi członkami rodziny), krępą budową i okrągłym kształtem twarzy. Nadciśnienie często ujawnia się w dzieciństwie."},"cs":{"name":"Syndrom zahrnující brachydaktylii a arteriální hypertenzi","synonyms":["Bilginturanova brachydaktylie","Bilginturanův syndrom","Brachydaktylie typu E, s malým vzrůstem a hypertenzí"]},"uk":{"name":"Синдром брахідактилії з артеріальною гіпертензією","synonyms":["Більгінтуранська брахідактилія","Більгінтуранський синдром","Брахідактилія типу Е, з низьким зростом і гіпертензією"],"definition":"A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood."},"zh":{"name":"短指畸形-动脉高血压综合征","synonyms":["E型短指畸形伴身材矮小及高血压"]},"tr":{"name":"Brakidaktili-arteriyel hipertansiyon sendromu","synonyms":["Bilginturan sendromu","Bilginturan brakidaktilisi","Kısa boy ve hipertansiyon ile brakidaktili tip E"]}},"xrefs":[{"source":"OMIM","code":"112410","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"790171484"},{"source":"MONDO","code":"0007211","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862170","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"967","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]}],"children":[],"genes":[{"symbol":"PDE3A","name":"phosphodiesterase 3A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25961942[PMID]","hgnc":"8778","ensembl":"ENSG00000172572","omim":"123805","loci":["12p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}