{"orpha":3404,"name":"Ulbright-Hodes syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Renal dysplasia-limb defects syndrome","Renal dysplasia-mesomelia-radiohumeral fusion syndrome"],"definition":"Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3404/","orphanet_url":"https://www.orpha.net/en/disease/detail/3404","names":{"fr":{"name":"Syndrome d'Ulbright-Hodes","synonyms":["Syndrome de dysplasie rénale-anomalie des membres","Syndrome de dysplasie rénale-mésomélie-fusion radio-humérale"],"definition":"Le syndrome d'Ulbright-Hodes est caractérisé par une dysplasie rénale, un retard de croissance, une phocomélie ou une mésomélie, une fusion radio-humérale, des anomalies des côtes, des anomalies de l'appareil génital externe et un faciès de type Potter. Ce syndrome a été décrit chez trois enfants (deux d'une même fratrie et un troisième non apparenté), tous décédés rapidement après la naissance d'une détresse respiratoire résultant d'une hypoplasie pulmonaire et d'un oligohydramnios dû à la dysplasie rénale. Le mode de transmission semble autosomique récessif."},"de":{"name":"Ulbright-Hodes-Syndrom","synonyms":["Nierendysplasie-Gliedmaßendefekte-Syndrom","Syndrom der Nierendysplasie mit Mesomelie und radiohumeraler Synostose"],"definition":"Symptome des Ulbright-Hodes-Syndroms sind Nierendysplasie, Minderwuchs, Phokomelie oder Mesomelie, radio-humerale Synostose, Rippenanomalien, Anomalien des äußeren Genitales und Potter-ähnliches Gesicht."},"es":{"name":"Síndrome de Ulbright-Hodes","definition":"Es un síndrome caracterizado por displasia renal, retraso del crecimiento, focomelia o mesomelia, fusión radiohumeral, anomalías costales, anomalías de los genitales externos y una facies inusual. El síndrome se ha descrito en tres niños (un par de hermanos y un caso no relacionado), que fallecieron poco después del nacimiento a consecuencia de dificultades respiratorias como resultado de hipoplasia pulmonar y oligohidramnios causados por la displasia renal. La forma de transmisión parece ser autosómica recesiva."},"it":{"name":"Sindrome di Ulbright-Hodes","synonyms":["Displasia renale - anomalie degli arti","Displasia renale - fusione mesomelica radio-omerale"]},"nl":{"name":"Syndroom van Ulbright-Hodes","synonyms":["Nierdysplasie - ledemaatdefecten-syndroom","Nierdysplasie - mesomelie - radiohumerale fusie-syndroom"],"definition":"Een syndroom, gekenmerkt door nierdysplasie, groeiretardatie, focomelie of mesomelie, radiohumerale fusie, ribanomalieën, anomalieën van uitwendige geslachtsorganen, en potter-achtig aangezicht. Syndroom van Ulbright-Hodes werd beschreven bij drie zuigelingen (één paar broers/zussen en één niet-gerelateerd geval), die allen kort na de geboorte stierven door respiratoire insufficiëntie als gevolg van longhypoplasie en oligohydramnion veroorzaakt door nierdysplasie. Transmissie lijkt autosomaal recessief te gebeuren."},"pt":{"name":"Síndrome Ulbright-Hodes","synonyms":["Síndrome de displasia renal-anomalias dos membros","Síndrome de displasia renal-mesomelia-fusão radio-umeral"]},"pl":{"name":"Zespół Ulbrighta i Hodesa","synonyms":["Dysplazja nerek - mezomelia - zrost kości promieniowej i ramiennej","Dysplazja nerek - wady kończyn"]},"cs":{"name":"Ulbrightové-Hodesův syndrom","synonyms":["Syndrom zahrnující renální dysplázii, mezomelii a radiohumerální fúzi","Syndrom zahrnující renální dysplázii a poruchy končetin","Ulbright-Hodesův syndrom"]},"uk":{"name":"Синдром Ульбрайта-Хоудса","synonyms":["Синдром ниркової дисплазії з дефектами кінцівок","Синдром ниркової дисплазії-мезомелії-радіоплечового зрощення"],"definition":"Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive."},"zh":{"name":"Ulbright-Hodes综合征","synonyms":["肾发育不良-肢体中部短肢-桡骨肱骨融合综合征"]},"tr":{"name":"Ulbright-Hodes sendromu","synonyms":["Böbrek displazisi-ekstremite defektleri sendromu","Böbrek displazisi-mezomeli-radyohumeral füzyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"266910","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009963","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537754","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849438","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5394","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":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6711618[PMID]_2240030[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6711618[PMID]_2240030[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-06","source":"15476130[PMID]_2240030[PMID]_6711618[PMID]","terms":[{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040072","label":"Abnormal forearm bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003561","label":"Birth length less than 3rd percentile","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008683","label":"Enlarged labia minora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002990","label":"Fibular aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003041","label":"Humeroradial synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011341","label":"Long upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003309","label":"Ovoid thoracolumbar vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009829","label":"Phocomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002009","label":"Potter facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000879","label":"Short sternum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null}]}}