{"orpha":1112,"name":"Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Johnson-Munson syndrome"],"definition":"An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1112/","orphanet_url":"https://www.orpha.net/en/disease/detail/1112","names":{"fr":{"name":"Syndrome d'aphalangie-hémivertèbre-dysgénésie uro-génito-intestinale","synonyms":["Syndrome de Johnson-Munson"],"definition":"Syndrome rare d'anomalie congénitale des membres, décrit à ce jour chez seulement 3 patients, caractérisé par l'association d'une hypoplasie ou d'une aplasie des phalanges des mains et des pieds, d'hémivertèbres et de diverses anomalies urogénitales et/ou intestinales (dysgénésie du tractus urogénital et du rectum). Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Aphalangie-Hemivertebrae-urogenital-intestinale Dysgenesie-Syndrom","synonyms":["Johnson-Munson-Syndrom"]},"es":{"name":"Síndrome de afalangia-hemivértebras-disgenesia urogenital-intestinal","synonyms":["Síndrome de Johnson-Munson"],"definition":"Es un síndrome muy poco frecuente con malformaciones congénitas de las extremidades descrito hasta la fecha en tan sólo 3 pacientes. Está caracterizado por la asociación de hipoplasia o aplasia de las falanges de manos y pies, hemivértebras y diversas anomalías urogenitales y/o intestinales (disgenesia del tracto urogenital y del recto). No se han publicado más casos en la literatura desde 1991."},"it":{"name":"Afalangia - emivertebre - disgenesia urogenitale-intestinale","synonyms":["Sindrome di Johnson-Munson"],"definition":"L'afalangia associata ad emivertebre e disgenesia urogenitale-intestinale è una malformazione congenita molto rara degli arti, descritta solo in tre pazienti. È caratterizzata dall'associazione tra l'ipoplasia o l'aplasia delle falangi delle mani e dei piedi, emivertebre e anomalie urogenitali e/o intestinali (disgenesia del tratto urogenitale e del retto). Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Afalangie - hemivertebrae - urogenitale-intestinale dysgenesie-syndroom","synonyms":["Syndroom van Johnson-Munson"],"definition":"Een uiterst zeldzaam, congenitaal syndroom met malformatie van ledematen dat tot op heden in slechts drie patiënten werd beschreven, en dat gekarakteriseerd wordt door de associatie van hypoplasie of aplasie van vinger- en of teenkootjes, hemivertebrae en verscheidene urogenitale en/of intestinale afwijkingen (i.e. dysgenesie van urogenitaal stelsel en rectum). Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de afalangia-hemivertebras-disgenesia urogenital e intestinal","synonyms":["Síndrome Johnson-Munson"]},"pl":{"name":"Brak paliczków - półkręgi - dysgenezja moczowo-płciowo-jelitowa","synonyms":["Zespół Johnsona i Munsona"]},"cs":{"name":"Syndrom zahrnující afalangii a hemivertebrae-urogenitálně-intestinální dysgenezi","synonyms":["Johnsonův-Munsonův syndrom","Johnson-Munsonův syndrom"]},"uk":{"name":"Синдром афалангії-гемівертебрально-урогенітально-кишкового дисгенезу","synonyms":["Синдром Джонсона-Мансона"],"definition":"An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991."},"zh":{"name":"无指（趾）畸形-半锥体-泌尿生殖道-肠发育不全综合征","synonyms":["Johnson-Munson综合征"]},"tr":{"name":"Afalanji-hemivertebra-ürogenital-bağırsak disgenezi sendromu","synonyms":["Johnson-Munson sendromu"]}},"xrefs":[{"source":"OMIM","code":"207620","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008806","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535881","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859754","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3051","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"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":"2282714[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2282714[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009767","label":"Aplasia/Hypoplasia of the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010173","label":"Aplasia/Hypoplasia of the phalanges of the toes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001555","label":"Asymmetry of the thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012621","label":"Persistent cloaca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004320","label":"Vaginal fistula","frequency":"Frequent (79-30%)","criteria":null}]}}