{"orpha":1422,"name":"Chondrodysplasia-difference of sex development syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Chondrodysplasia-disorder of sex development syndrome","Chondrodysplasia-pseudohermaphroditism syndrome","Nivelon-Nivelon-Mabille syndrome"],"definition":"A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1422/","orphanet_url":"https://www.orpha.net/en/disease/detail/1422","names":{"fr":{"name":"Syndrome de chondrodysplasie-différence du développement sexuel","synonyms":["Syndrome de chondrodysplasie-anomalie du développement sexuel","Syndrome de chrondrodysplasie-pseudohermaphroditisme"],"definition":"Différence rare de développement sexuel affectant les individus&nbsp;46,XY et caractérisée par une dysgénésie gonadique complète (organes génitaux externes féminins normaux, absence de développement pubertaire, aménorrhée primaire et hypogonadisme hypergonadotrope) associée à une forme sévère de petite taille avec chondrodysplasie généralisée (thorax en forme de cloche, micromélie, brachydactylie). D'autres caractéristiques ont été rapportées chez les enfants d'une fratrie ayant survécu&nbsp;: anomalies oculaires (hypoplasie de l'iris, myopie, colobome des disques optiques), dysmorphie faciale (yeux enfoncé dans les orbites, fentes palpébrales orientées vers le haut, paupières gonflées, grandes oreilles et large bouche, léger prognathisme), hypoplasie musculaire, légère déficience intellectuelle et microcéphalie sévère avec hypoplasie du vermis cérébelleux."},"de":{"name":"Chondrodysplasie-Variante der Geschlechtsentwicklung-Syndrom","synonyms":["Chondrodysplasie-DSD-Syndrom","Nivelon-Nivelon-Mabille Syndrom"],"definition":"Eine seltene Störung der Geschlechtsentwicklung, die in Individuen mit dem Genotyp 46,XY beschrieben wurde und die durch eine vollständige Dysgenesie der Gonaden (normale äußere weibliche Genitalien, keine Pubertätsentwicklung, primäre Amenorrhoe und hypergonadotroper Hypogonadismus) in Verbindung mit einem schweren Kleinwuchs mit generalisierter Chondrodysplasie (glockenförmiger Thorax, Mikromelie, Brachydaktylie) gekennzeichnet ist. Weitere Merkmale, die bei dem lebenden Geschwister beobachtet wurden, waren Augenanomalien (hypoplastische Iris, Kurzsichtigkeit, Kolobom des Sehnervs), Dysmorphien (tiefliegende Augen, aufsteigende Lidachsen, geschwollene Augenlider, große Ohren und Mund, leichte Progenie), Muskelhypoplasie, leichte Intelligenzminderung und schwere Mikrozephalie mit Kleinhirnhypoplasie."},"es":{"name":"Síndrome de condrodisplasia-desarrollo sexual diferente","synonyms":["Síndrome de Nivelon-Nivelon-Mabille","Síndrome de condrodisplasia-pseudohermafroditismo","Síndrome de condrodisplasia-trastorno del desarrollo sexual"],"definition":"Es un desarrollo sexual diferente (DSD) poco frecuente que afecta a individuos 46,XY y que se caracteriza por disgenesia gonadal completa (genitales externos femeninos normales, ausencia de desarrollo puberal, amenorrea primaria e hipogonadismo hipergonadotrófico) en asociación con un talla baja extrema grave con condrodisplasia generalizada (tórax en campana, micromelia, braquidactilia). Otros rasgos descritos incluyen anomalías oculares (hipoplasia del iris, miopía, coloboma de los discos ópticos), rasgos dismórficos (ojos hundidos, fisuras palpebrales ascendentes, párpados hinchados, orejas y boca grandes, prognatismo leve), hipoplasia muscular, deficiencia intelectual leve y microcefalia grave con hipoplasia del vermis cerebeloso."},"it":{"name":"Sindrome condrodisplasia-differenza dello sviluppo sessuale","synonyms":["Condrodisplasia - pseudoermafroditismo","Sindrome condrodisplasia-disturbo dello sviluppo sessuale","Sindrome condrodisplasia-pseudoermafroditismo","Sindrome di Nivelon-Nivelon-Mabille"]},"nl":{"name":"Chondrodysplasie - variatie in geslachtelijke ontwikkeling-syndroom","synonyms":["Chondrodysplasie - geslachtsontwikkelingsstoornis-syndroom","Chondrodysplasie - pseudohermafroditisme-syndroom","Syndroom van Nivelon-Nivelon-Mabille"],"definition":"Een zeldzame variatie in geslachtsontwikkeling die 46,XY-individuen treft, gekenmerkt door complete gonadale dysgenesie (normale uitwendige vrouwelijke genitaliën, gebrek aan puberale ontwikkeling, primaire amenorroe, en hypergonadotroop hypogonadisme) in associatie met ernstige dwerggroei met gegeneraliseerde chondrodysplasie (klokvormige thorax, micromelie, brachydactylie). Overige kenmerken die werden gerapporteerd bij de overlevende broer/zus waren onder meer ooganomalieën (hypoplastische irissen, myopie, coloboom van oogzenuwkop), dysmorfe kenmerken (diepliggende ogen, schuin opwaarts hellende ooglidspleten, gezwollen oogleden, grote oren en mond, milde prognathie), spierhypoplasie, milde intellectuele achterstand, en ernstige microcefalie met hypoplasie van vermis cerebelli."},"pt":{"name":"Síndrome de condrodisplasia-desenvolvimento sexual diferente","synonyms":["Síndrome Nivelon-Nivelon-Mabille","Síndrome de condrodisplasia-doença do desenvolvimento sexual","Síndrome de condrodisplasia-pseudohermafroditismo"],"definition":"Diferença no desenvolvimento sexual rara que afeta indivíduos 46,XY sendo caracterizada por disgenesia gonadal completa (genitália feminina externa normal, ausência de desenvolvimento pubertário, amenorreia primária e hipogonadismo hipergonadotrófico) em associação com nanismo grave com condrodisplasia generalizada (tórax em forma de sino, micromelia, braquidactilia). Outras características descritas num irmão vivo incluíram anomalias oculares (íris hipoplásicas, miopia, coloboma dos discos ópticos), características dismórficas (olhos encovados, fissuras palpebrais inclinadas para cima, pálpebras inchadas, orelhas e boca grandes, prognatismo ligeiro), hipoplasia muscular, perturbação do desenvolvimento intelectual ligeira e microcefalia grave com hipoplasia do vérmis cerebeloso."},"pl":{"name":"Chondrodysplazja - zaburzenie rozwoju płci","synonyms":["Chondrodysplazja - pseudohermafrodytyzm","Zespół Nivelona, Nivelona i Mabille'a","Zespół chondrodysplazji i zaburzeń rozwoju płciowego"],"definition":"Rzadkie zaburzenie rozwoju płci występujące u osobników 46,XY, które charakteryzuje się całkowitą dysgenezją gonad (prawidłowe zewnętrzne żeńskie narządy płciowe, brak dojrzewania płciowego, pierwotny brak miesiączki i hipogonadyzm hipergonadotropowy) w połączeniu z ciężką karłowatością z uogólnioną chondrodysplazją (klatka piersiowa w kształcie dzwonu, mikromelia , brachydaktylia). Inne zgłaszane cechy u żyjącego rodzeństwa obejmowały wady oczu (niedorozwój tęczówki, krótkowzroczność, coloboma tarczy nerwu wzrokowego), cechy dysmorfii (głęboko osadzone oczy, skośne szpary powiekowe, opuchnięte powieki, duże uszy i usta, łagodny prognatyzm), niedorozwój mięśni, łagodny upośledzenie umysłowe i ciężkie małogłowie z niedorozwojem robaka móżdżku."},"cs":{"name":"Syndrom zahrnující chondrodysplázii a poruchy pohlavního vývoje","synonyms":["Syndrom zahrnující chondrodysplázii a pseudohermafroditismus","Nivelonův syndrom"]},"uk":{"name":"Синдром хондродисплазії - порушення статевого розвитку","synonyms":["Синдром хондродисплазії-порушення статевого розвитку","Синдром хондродисплазії-псевдогермафродитизму","Синдром Нівелона-Нівелона-Мабільє"],"definition":"A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia."},"zh":{"name":"软骨发育不良-性别分化异常综合征","synonyms":["Nivelon-Nivelon-Mabille综合征"]},"tr":{"name":"Kondrodisplazisi-cinsiyet gelişim bozukluğu sendromu","synonyms":["Nivelon-Nivelon-Mabille sendromu"]}},"xrefs":[{"source":"OMIM","code":"600092","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010814","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536123","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838654","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364536,"name":"Primary bone dysplasia with micromelia","classifications":[147,156,199]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"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":"HHAT","name":"hedgehog acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24784881[PMID]","hgnc":"18270","ensembl":"ENSG00000054392","omim":"605743","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1342874[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1342874[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005622","label":"Broad long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004330","label":"Increased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006872","label":"Cerebral hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007676","label":"Hypoplasia of the iris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000616","label":"Miosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}