{"orpha":2975,"name":"46,XX difference of sex development-skeletal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["46,XX disorder of sex development-skeletal anomalies syndrome"],"definition":"A rare difference of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2975/","orphanet_url":"https://www.orpha.net/en/disease/detail/2975","names":{"fr":{"name":"Syndrome de différence du développement sexuel 46,XX-différences squelettiques","synonyms":["Syndrome d'anomalie du développement sexuel 46,XX-anomalies squelettiques"],"definition":"Anomalie rare du développement sexuel caractérisée par une aménorrhée primaire et une ambiguïté des organes génitaux (augmentation du volume du clitoris avec fusion marquée des tubercules labio-scrotaux) en association avec des anomalies squelettiques (hypoplasie du condyle mandibulaire et du maxillaire, et luxation de la tête radiale du cubitus), en présence d'un caryotype 46,XX et d'ovaires, de trompes de Fallope et d'un utérus de volume normal. Aucun cas n'a été décrit dans la littérature depuis 1972."},"de":{"name":"46,XX-Störung der Geschlechtsentwicklung-Skelettanomalien-Syndrom","synonyms":["46,XX-DSD-Skelettanomalien-Syndrom"],"definition":"Eine seltene Störung der Geschlechtsentwicklung (DSD), die durch primäre Amenorrhoe und uneindeutige äußere Genitalien (vergrößerte Klitoris mit ausgeprägter Verschmelzung der Schamlippenfalten) in Verbindung mit Skelettanomalien (z. B. Hypoplasie der Unterkieferkondylen und des Oberkiefers sowie ulnare Dislokation der Radialköpfe) gekennzeichnet ist, bei Vorliegen eines 46,XX-Karyotyps und regulären Eierstöcken, Eileitern und Gebärmutter. Seit 1972 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de desarrollo sexual diferente 46,XX-anomalías esqueléticas","synonyms":["Síndrome DSD 46,XX-anomalías esqueléticas","Síndrome de trastorno del desarrollo sexual 46,XX-anomalías esqueléticas"],"definition":"Es un desarrollo sexual diferente (DSD) poco frecuente caracterizado por amenorrea primaria y genitales externos ambiguos (clítoris agrandado con una marcada fusión de los pliegues labioescrotales) asociado a anomalías esqueléticas (como hipoplasia de los cóndilos mandibulares y del maxilar, y luxación cubital de las cabezas radiales), en presencia de un cariotipo 46, XX y ovarios, trompas de Falopio y útero normales. No ha habido más casos descritos en la literatura desde 1972."},"it":{"name":"Malattia dello sviluppo sessuale 46,XX-anomalie scheletriche","synonyms":["Pseudoermafroditismo femminile - anomalie scheletriche"],"definition":"Si tratta di una malattia rara dello sviluppo sessuale, caratterizzata da amenorrea primaria e genitali esterni ambigui (clitoride ingrossato con marcata fusione delle pieghe labioscrotali) associati ad anomalie scheletriche (ipoplasia dei condili mandibolari e della mascella, e dislocazione ulnare delle teste del radio), in presenza di un cariotipo 46,XX e di ovaie, tube di Falloppio e utero normali. Non sono stati descritti nuovi casi dopo il 1972."},"nl":{"name":"46,XX-geslachtsontwikkelingsstoornis - skeletanomalieën-syndroom","definition":"Een zeldzame variatie in geslachtsontwikkeling, gekenmerkt door primaire amenorroe en ambigue uitwendige geslachtsorganen (vergrote clitoris met opvallende fusie van labioscrotale plooien) in associatie met skeletanomalieën (zoals hypoplasie van gewrichtskop van kaakgewricht en bovenkaakbeen, en ulnaire luxatie van radiuskop), in aanwezigheid van een 46,XX-karyotype en normale ovaria, eileiders, en uterus. Sinds 1972 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de doença do desenvolvimento sexual 46,XX-anomalias esqueléticas","synonyms":["Pseudo-hermafroditismo feminino-anomalias esqueléticas"],"definition":"Diferença no desenvolvimento sexual, rara, caracterizada por amenorreia primária e genitália externa ambígua (clitóris aumentado com fusão acentuada das pregas labioescrotais) em associação com anomalias esqueléticas (como hipoplasia dos côndilos mandibulares e da maxila e luxação ulnar das cabeças radiais), na presença de um cariótipo 46,XX e ovários, trompas de Falópio e útero regulares. Não existem descrições adicionais na literatura desde 1972."},"pl":{"name":"Zaburzenie rozwoju płci z kariotypem 46,XX - anomalie szkieletowe","synonyms":["Pseudohermafrodytyzm żeński - wady szkieletu"],"definition":"Rzadkie zaburzenie różnicowania płci charakteryzujące się pierwotnym brakiem miesiączki i obojnaczymi zewnętrznymi narządami płciowymi (powiększony łechtaczka z wyraźnym zrośnięciem fałdów wargowo-mosznowych), wadami układu szkieletowego (hipoplazja kłykci żuchwy i szczęki oraz łokciowe zwichnięcie głów kości promieniowej), przy kariotypie 46,XX oraz zachowanych jajnikach, jajowodach i macicy. Od 1972 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující 46,XX poruchu pohlavního vývoje a skeletální anomálie","synonyms":["Syndrom zahrnující ženský pseudohermafroditismus a skeletální anomálie"]},"uk":{"name":"Синдром 46,XX порушення статевої диференціації-скелетних аномалій","synonyms":["Синдром 46,XX порушення статевого розвитку - скелетних аномалій"],"definition":"A rare difference of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972."},"zh":{"name":"46XX性发育异常-骨骼异常综合征"},"tr":{"name":"46, XX cinsel gelişim bozukluğu-iskelet anomalileri sendromu"}},"xrefs":[{"source":"OMIM","code":"264270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q56.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009915","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518077","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"5042791[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5042791[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-10","source":"5042791[PMID]","terms":[{"hpo":"HP:0000061","label":"Ambiguous genitalia, female","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003871","label":"Deformed humerus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000063","label":"Fused labia minora","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010650","label":"Hypoplasia of the premaxilla","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040253","label":"Increased size of the clitoris","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007628","label":"Mandibular condyle hypoplasia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000137","label":"Abnormality of the ovary","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Excluded (0%)","criteria":null}]}}