{"orpha":52047,"name":"Braddock syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency"],"definition":"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52047/","orphanet_url":"https://www.orpha.net/en/disease/detail/52047","names":{"fr":{"name":"Syndrome de Braddock","synonyms":["Syndrome de Vater-like-hypertension pulmonaire-anomalies des oreilles-retard de croissance"],"definition":"Le syndrome de Braddock est un syndrome malformatif rare avec de multiples anomalies congénitales, décrit chez deux frères et soeurs. Il se caractérise par une association de type VACTERL combinée à une hypertension pulmonaire, des brides laryngées, des sclères bleues, des anomalies de l'oreille, un retard de croissance persistant, en l'absence de déficit intellectuel."},"de":{"name":"Braddock-Syndrom","synonyms":["VATER-ähnliches Syndrom - pulmonale Hypertension - Ohranomalien - Kleinwuchs"],"definition":"Das Braddock-Syndrom ist ein seltenes Fehlbildungs-Syndrom mit multiplen angeborenen Anomalien. Es wurde bei 2 Geschwistern beschrieben und ist gekennzeichnet durch eine VACTERL-ähnliche Assoziation in Verbindung mit Lungenhochdruck, Larynxnetzen, blauen Skleren, malformierten Ohren, dauerhaft verzögertem Wachstum und normaler Intelligenz."},"es":{"name":"Síndrome de Braddock","synonyms":["Síndrome similar a Vater con hipertensión pulmonar, anomalías de las orejas y retraso del crecimiento"],"definition":"El síndrome de Braddock es un síndrome malformativo poco frecuente con anomalías congénitas múltiples, descrito en 2 hermanos, que se caracteriza por la asociación VACTERL-like en combinación con hipertensión pulmonar, membranas laríngeas, escleras azules, orejas anormales, déficit de crecimiento persistente e intelecto normal."},"it":{"name":"Sindrome di Braddock","synonyms":["Sindrome VATER-simile - ipertensione polmonare - orecchie anomale - difetto di crescita"],"definition":"La sindrome di Braddock è una sindrome malformativa rara, associata ad anomalie congenite multiple, osservata in due fratelli. È caratterizzata da un'associazione simil-VACTERL con ipertensione polmonare, membrane laringee, sclere blu, anomalie dell'orecchio, persistente deficit della crescita e intelligenza normale."},"nl":{"name":"Syndroom van Braddock","synonyms":["VATER-achtig syndroom met pulmonale hypertensie, abnormale oren en groeiachterstand"],"definition":"Braddocksyndroom is een zeldzaam malformatiesyndroom met meervoudige aangeboren afwijkingen, beschreven in twee broer/zus-verwanten, dat gekenmerkt wordt door VACTERL-achtige associatie in combinatie met pulmonale hypertensie, laryngeale webben, blauwe sclerae, abnormale oren, aanhoudende groeideficiëntie en normaal intellect."},"pt":{"name":"Síndrome Braddock","synonyms":["Síndrome Vater-like com hipertensão pulmonar, anomalias das orelhas, perturbação de crescimento"]},"pl":{"name":"Zespół Braddocka","synonyms":["Zespół podobny do zespołu Vatera z nadciśnieniem płucnym, nieprawidłowymi uszami i niedoborem wzrostu"]},"cs":{"name":"Braddockův syndrom","synonyms":["Syndrom podobný VATER syndromu s plicní hypertenzí, abnormálníma ušima a růstovým deficitem"]},"uk":{"name":"Синдром Браддока","synonyms":["Синдром Ватера з легеневою гіпертензією, аномаліями вух і затримкою росту"],"definition":"Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect."},"zh":{"name":"Braddock综合征","synonyms":["壶腹样综合征伴肺动脉高压伴异常耳和生长缺陷"]},"tr":{"name":"Braddock sendromu","synonyms":["Pulmoner hipertansiyon, anormal kulaklar ve büyüme yetersizliği ile seyreden Vater benzeri sendrom"]}},"xrefs":[{"source":"OMIM","code":"608406","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012032","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303988","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]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":275853,"name":"Syndrome with pulmonary hypertension as a major feature","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"14556254[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14556254[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"14556254[PMID]","terms":[{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005950","label":"Laryngeal web","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005988","label":"Congenital muscular torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null}]}}