{"orpha":3186,"name":"Holoprosencephaly-radial heart renal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Steinfeld syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3186/","orphanet_url":"https://www.orpha.net/en/disease/detail/3186","names":{"fr":{"name":"Syndrome de Steinfeld","synonyms":["Syndrome d'holoprosencéphalie-anomalies radiales, cardiaques et rénales"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une holoprosencéphalie, des anomalies des membres principalement radiales (absence des pouces, phocomélie), des anomalies cardiaques, rénales et l'absence de vésicule biliaire. Parmi les manifestations variables figurent des anomalies vertébrales, une fente labiale/palatine, une microphtalmie, une absence du nez, une dysplasie des oreilles, une perte auditive, des colobomes de l'iris et de la rétine et/ou une luette bifide."},"de":{"name":"Steinfeld-Syndrom","synonyms":["Holoprosenzephalie - Radius-, Herz- und Nierenfehlbildungen"],"definition":"Dieses Syndrom ist gekennzeichnet durch Holoprosenzephalie, Reduktionsfehlbildungen der Gliedmaßen mit überwiegend radialer Ausprägung (fehlende Daumen, Phokomelie), Herzfehler, Nierenfehlbildungen und Fehlen der Gallenblase. Zu den variablen Ausprägungen gehören Wirbelanomalien, Lippen-Kiefer-Gaumenspalte, Mikrophthalmie, fehlende Nase, dysplastische Ohren, Schwerhörigkeit, Iris- und Retinakolobome und/oder Uvula bifida."},"es":{"name":"Síndrome de holoprosencefalia-anomalías radiales, cardíacas y renales","synonyms":["Síndrome de Steinfeld"],"definition":"Es un síndrome poco frecuente de múltiples anomalías congénitas caracterizado por holoprosencefalia, ausencia de estructuras del eje radial del miembro (ausencia de pulgares, focomelia), defectos cardíacos, malformaciones renales y ausencia de vesícula biliar. Otras manifestaciones variables incluyen anomalías vertebrales, labio leporino/paladar hendido, microftalmia, ausencia de nariz, orejas displásicas, pérdida de audición, colobomas del iris y la retina y/o úvula bífida."},"it":{"name":"Sindrome di Steinfeld","synonyms":["Oloprosencefalia - anomalie radiali, cardiache e renali"]},"nl":{"name":"Holoprosencefalie - radiale, cardiale en renale anomalieën-syndroom","synonyms":["Syndroom van Steinfeld"],"definition":"Een zeldzaam syndroom van multipele congenitale anomalieën, gekarakteriseerd door holoprosencefalie, voornamelijk radiale ledemaatdefecten (afwezige duimen, focomelie), hartdefecten, niermalformaties, en afwezigheid van galblaas. Variabele manifestaties zijn onder meer vertebrale anomalieën, gespleten lip/verhemelte, microftalmie, afwezige neus, dysplastische oren, gehoorverlies, coloboom van iris en retina, en/of bifide uvula."},"pt":{"name":"Síndrome de holoprosencefalia-anomalias radio-cardio-renais","synonyms":["Síndrome Steinfeld"]},"pl":{"name":"Holoprozencefalia - anomalie kości promieniowej, serca i nerek","synonyms":["Zespół Steinfelda"]},"cs":{"name":"Syndrom zahrnující holoprosencefalii a radiální srdeční renální anomálie","synonyms":["Steinfeldův syndrom"]},"uk":{"name":"Синдром холопрозенцефалії-радіальної серцево-ниркової аномалії","synonyms":["Синдром Штайнфельда"],"definition":"A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula."},"zh":{"name":"前脑无裂畸形-桡心肾异常综合征","synonyms":["Steinfeld综合征"]},"tr":{"name":"Holoprosensefali-radyal kalp böbrek anomalileri sendromu","synonyms":["Steinfeld sendromu"]}},"xrefs":[{"source":"OMIM","code":"184705","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008488","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566655","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866649","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"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":4.0,"area":"Worldwide","status":"Validated","source":"20583155[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20583155[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009927","label":"Aplasia of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011467","label":"Absent gallbladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009914","label":"Cyclopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002623","label":"Overriding aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009829","label":"Phocomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}