{"orpha":2438,"name":"Hand-foot-genital syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HFGS","Hand-foot-uterus syndrome"],"definition":"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2438/","orphanet_url":"https://www.orpha.net/en/disease/detail/2438","names":{"fr":{"name":"Syndrome main-pied-utérus","synonyms":["HFGS"],"definition":"Syndrome très rare de malformations congénitales multiples, caractérisé par des malformations des membres distaux et des malformations urogénitales."},"de":{"name":"Hand-Fuß-Genital-Syndrom","synonyms":["HFGS","Hand-Fuss-Uterus-Syndrom"]},"es":{"name":"Síndrome mano-pie-genital","synonyms":["HFGS","Síndrome útero-mano-pie"],"definition":"Es un síndrome de anomalías congénitas múltiples muy poco frecuente que se caracteriza por malformaciones de las extremidades distales y defectos urogenitales."},"it":{"name":"Sindrome mano-piede-genitali","synonyms":["HFGS","Sindrome mano-piede-utero"]},"nl":{"name":"Hand-voet-genitaal syndroom","synonyms":["HFGS","Hand-voet-uterus-syndroom"],"definition":"Hand-voet-genitaal syndroom (HFGS) is een zeer zeldzaam, meervoudige aangeboren afwijkingen-syndroom, gekenmerkt door misvormingen van de distale ledematen en urogenitale defecten."},"pt":{"name":"Síndrome mão-pé-genital","synonyms":["HFGS","Síndrome mão-pé-útero"]},"pl":{"name":"Zespół ręka-noga-genitalia","synonyms":["HFGS","Zespół dłoń-stopa-macica"]},"cs":{"name":"Syndrom ruka-noha-genitál","synonyms":["HFGS","Syndrom ruka-noha-děloha"]},"uk":{"name":"Синдром руки-ноги-геніталії","synonyms":["Синдром рука-нога-матка","HFGS"],"definition":"Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects."},"zh":{"name":"手-足-外生殖器综合征","synonyms":["手-足-子宫综合征"]},"tr":{"name":"El-ayak-genital sendrom","synonyms":["HFGS","El-ayak-uterus sendromu"]}},"xrefs":[{"source":"OMIM","code":"140000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q51.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1236528513"},{"source":"MONDO","code":"0007698","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841679","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2594","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072361","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":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":180148,"name":"Syndromic uterovaginal malformation","classifications":[205]}],"children":[],"genes":[{"symbol":"HOXA13","name":"homeobox A13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301596[PMID]","hgnc":"5102","ensembl":"ENSG00000106031","omim":"142959","loci":["7p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"29177010[PMID]_33520218[PMID]_29638102[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29177010[PMID]_33520218[PMID]_29638102[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010034","label":"Short 1st metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010105","label":"Short first metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006110","label":"Shortening of all middle phalanges of the fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008080","label":"Hallux varus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011937","label":"Hypoplastic fifth toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}