{"orpha":1770,"name":"XY type gonadal dysgenesis-associated anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare syndrome with 46,XY difference of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1770/","orphanet_url":"https://www.orpha.net/en/disease/detail/1770","names":{"fr":{"name":"Syndrome de dysgénésie gonadique-anomalies multiples","definition":"Syndrome rare avec anomalie du développement sexuel 46,XY caractérisé par un léger retard de développement et des stries gonadiques associés à une petite taille, des anomalies cardiaques, rénales, musculosquelettiques et ectodermiques (à savoir anomalies du cuir chevelu et verticilles inhabituels de cheveux), et une dysmorphie faciale (sinus pré-auriculaires, columelle courte et petites narines). Aucun cas n'a été décrit dans la littérature depuis 1980."},"de":{"name":"Syndrom der Gonadendysgenesie vom XY-Typ mit assoziierten Fehlbildungen","synonyms":["XY-Gonadendysgenesie mit assoziierten Anomalien"],"definition":"Ein seltenes Syndrom mit 46,XY-Störung der Geschlechtsentwicklung, das durch eine leichte Entwicklungsverzögerung und Streak-Gonaden gekennzeichnet ist und mit Kleinwuchs, Herz-, Nieren-, Muskel-Skelett- und ektodermalen Anomalien (letztere einschließlich Kopfhautdefekten und ungewöhnlichen Haarwirbeln) sowie Gesichtsdysmorphien (wie präaurikuläre Gruben, kurze Columella und kleine Nasenlöcher) einhergeht. Seit 1980 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de disgenesia gonadal tipo XY-anomalías asociadas","definition":"Es un desarrollo sexual diferente (DSD) poco frecuente 46, XY que se caracteriza por leve retraso psicomotor y gónadas estriadas asociados a talla baja, anomalías cardíacas, renales, musculoesqueléticas y ectodérmicas (incluyendo defectos del cuero cabelludo y remolinos capilares inusuales) y rasgos faciales dismórficos (como fositas preauriculares, columela corta y narinas pequeñas). No ha habido más descripciones en la literatura desde 1980."},"it":{"name":"Sindrome delle anomalie associate alla disgenesia gonadica tipo XY","definition":"Si tratta di una malattia rara dello sviluppo sessuale 46,XY, caratterizzata da lieve ritardo dello sviluppo, gonadi a bandarella, bassa statura, cardiopatie, anomalie renali, muscoloscheletriche ed ectodermiche (difetti del cuoio capelluto e vortici dei capelli) e dismorfismi facciali (fossette preauricolari, columella corta e ipoplasia delle narici). Non sono stati descritti nuovi casi dopo il 1980."},"nl":{"name":"Gonadale dysgenesie, XY-type - geassocieerde anomalieën-syndroom","definition":"Een zeldzaam syndroom met 46,XY-variatie in geslachtsontwikkeling, gekenmerkt door milde ontwikkelingsachterstand en 'streak'-gonaden geassocieerd met kleine gestalte, cardiale, renale, musculoskeletale en ectodermale afwijkingen (deze laatste omvat onder meer defecten van scalp en abnormale weerborstels), en dysmorfe gelaatskenmerken (zoals preauriculaire kuiltjes, korte columella, en kleine neusgaten). Sinds 1980 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de anomalias associadas a disgenesia gonadal tipo XY","definition":"Síndrome de diferença no desenvolvimento sexual 46,XY, rara, caracterizada por um ligeiro atraso no desenvolvimento e gónadas estriadas associadas a baixa estatura, anomalias cardíacas, renais, musculoesqueléticas e ectodérmicas (estas últimas incluindo defeitos no couro cabeludo e espirais capilares invulgares) e características faciais dismórficas (como fossetas pré-auriculares, columela curta e narinas pequenas). Não existem descrições adicionais na literatura desde 1980."},"pl":{"name":"Dysgenezja gonad typu XY i anomalie towarzyszące","definition":"Rzadkie zaburzenie różnicowania płci u osób z kariotypem 46,XY, charakteryzujące się łagodnym opóźnieniem rozwoju i obecnością pasmowatych gonad, niskorosłością, wadami serca, nerek, układu mięśniowo-szkieletowego i nieprawidłowościami ektodermalnymi (które obejmują wady skóry głowy i nietypowy skręt włosów) oraz dysmorfią twarzy (dołki przeduszne, krótka kolumienka i małe nozdrza). Od 1980 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující XY typ gonadální dysgeneze a související anomálie"},"uk":{"name":"Синдром аномалій, повязаних з дисгенезією гонад за типом XY","definition":"A rare syndrome with 46,XY difference of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980."},"zh":{"name":"XY型性腺发育不良相关异常综合征"},"tr":{"name":"XY tipi gonadal disgenezi-ilişkili anomaliler sendromu"}},"xrefs":[{"source":"OMIM","code":"618419","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009302","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565536","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856272","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2541","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":98087,"name":"Syndrome with 46,XY 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":[{"symbol":"PPP2R3C","name":"protein phosphatase 2 regulatory subunit B''gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34750818[PMID]","hgnc":"17485","ensembl":"ENSG00000092020","omim":"615902","loci":["14q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6158563[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6158563[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","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:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}