{"orpha":2256,"name":"Fibulo-ulnar hypoplasia-renal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Saito-Kuba-Tsuruta syndrome"],"definition":"Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2256/","orphanet_url":"https://www.orpha.net/en/disease/detail/2256","names":{"fr":{"name":"Syndrome d'hypoplasie péroné-cubitus-anomalies rénales","synonyms":["Syndrome de Saito-Kuba-Tsuruta"],"definition":"Le syndrome d'hypoplasie péroné-cubitus-anomalies rénales est caractérisé par une dysostose du péroné et du cubitus associée à des anomalies rénales. Il a été décrit chez deux frères nés de parents non consanguins. Ce syndrome est létal à la naissance (détresse respiratoire). Les manifestations cliniques incluent des anomalies des oreilles et du visage (incluant une micrognathie), un racourcissement symétrique des os longs, une agénésie du péroné et une hypoplasie cubitale, une oligosyndactylie, une cardiopathie congénitale, et des reins kystiques ou hypoplasiques. Il se transmet sur le mode autosomique récessif."},"de":{"name":"Fibula-/Ulnahypoplasie-Nierenanomalien-Syndrom","synonyms":["Saito-Kuba-Tsuruta-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch fibulo-ulnare Dysostose und Nierenanomalien."},"es":{"name":"Síndrome de hipoplasia de peroné y cúbito-anomalías renales","synonyms":["Síndrome de Saito-Kuba-Tsuruta"],"definition":"Es un síndrome caracterizado por disostosis cubital del peroné con anomalías renales. Se ha descrito en dos hermanos nacidos de padres no consanguíneos. El síndrome es letal al nacimiento (insuficiencia respiratoria). Las manifestaciones clínicas incluyen anomalías faciales y del oído (incluyendo micrognatia), acortamiento simétrico de los huesos largos, agenesia del peroné e hipoplasia cubital, oligosindactilia, defectos cardíacos congénitos y riñón quístico o hipoplásico. Se transmite como un rasgo autosómico recesivo."},"it":{"name":"Ipoplasia peronale e cubitale - anomalie renali","synonyms":["Sindrome di Saito-Kuba-Tsuruta"]},"nl":{"name":"Fibulo-ulnaire hypoplasie - nieranomalieën-syndroom","synonyms":["Syndroom van Saito-Kuba-Tsuruta"],"definition":"Een syndroom, gekenmerkt door fibulo-ulnaire dysostose en nieranomalieën. Fibulo-ulnaire hypoplasie - renale anomalieën-syndroom werd beschreven bij twee broers/zussen van niet-bloedverwante ouders. Het syndroom is letaal bij de geboorte (respiratoir falen). Klinische manifestaties zijn onder meer anomalieën van oor en aangezicht (waaronder micrognathie), symmetrisch abnormaal korte pijpbeenderen, agenesie van fibula en hypoplasie van ulna, oligosyndactylie, congenitale hartdefecten, en cystische of hypoplastische nier. Het wordt overgedragen als een autosomaal recessief kenmerk."},"pt":{"name":"Síndrome de hipoplasia cubito-peroneal-anomalias renais","synonyms":["Síndrome Saito-Kuba-Tsuruta"]},"pl":{"name":"Hipoplazja strzałkowo-łokciowa - wady nerek","synonyms":["Zespół Saito, Kuba i Tsuruta"]},"cs":{"name":"Syndrom zahrnující fibuloulnární hypoplázii a anomálie ledvin","synonyms":["Saitové-Kubaův-Tsurutaův syndrom","Saito-Kuba-Tsurutaův syndrom"]},"uk":{"name":"Синдром фібуло-ульнарної гіпоплазії - аномалії розвитку нирок","synonyms":["Синдром Сайто-Куба-Цурути"],"definition":"Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait."},"zh":{"name":"腓骨-尺骨发育不良肾功能异常综合征","synonyms":["Saito-Kuba-Tsuruta综合征"]},"tr":{"name":"Fibulo-ulnar hipoplazi-renal anomaliler sendromu","synonyms":["Saito-Kuba-Tsuruta sendromu"]}},"xrefs":[{"source":"OMIM","code":"228940","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009233","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537226","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856727","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"320","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":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2773984[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2773984[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010242","label":"Aplasia of the proximal phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006492","label":"Aplasia/Hypoplasia of the fibula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}