{"orpha":1643,"name":"Xp22.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(X)(p23)"],"definition":"Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1643/","orphanet_url":"https://www.orpha.net/en/disease/detail/1643","names":{"fr":{"name":"Syndrome de microdéletion Xp22.3","synonyms":["Del(X)(p23)"],"definition":"Le syndrome de microdélétion Xp22.3 est un syndrome de microdélétion résultant de la délétion partielle du chromosome X. Le phénotype varie beaucoup (selon la taille de la délétion), mais il se caractérise principalement par une ichtyose liée à l'X, un déficit intellectuel léger à modéré, un syndrome de Kallmann, une petite taille, une chondrodysplasie ponctuée et un albinisme oculaire. Le syndrome peut être associé à une épilepsie, un trouble de déficit de l'attention avec hyperactivité, de l'autisme et un trouble de la communication sociale."},"de":{"name":"Mikrodeletionssyndrom Xp22.3","synonyms":["Del(X)(p23)"],"definition":"Das Mikrodeletionssyndrom Xp22.3 resultiert aus einer partiellen Deletion des X-Chromosoms. Der Phänotyp ist sehr variabel (abhängig von der Länge der Deletion), manifestiert sich aber hauptsächlich durch X-gebundene Ichthyose, leichte bis mittelschwere intellektuelle Defizite, Kallmann-Syndrom, Kleinwuchs, Chondrodysplasia punctata und okulären Albinismus. Epilepsie, Aufmerksamkeitsdefizit-/Hyperaktivitätsstörung, Autismus und Schwierigkeiten bei der sozialen Kommunikation können assoziiert sein."},"es":{"name":"Síndrome de microdeleción Xp22.3","synonyms":["Del(X)(p23)"],"definition":"El síndrome de microdeleción Xp22.3 es un síndrome de microdeleción que resulta de la deleción parcial del cromosoma X. El fenotipo es altamente variable (dependiendo de la longitud de la deleción), aunque está caracterizado fundamentalmente por la ictiosis ligada al X, discapacidad intelectual de leve a moderada, síndrome de Kallmann, baja estatura, condrodisplasia punctata y albinismo ocular. La epilepsia, el trastorno de déficit de atención e hiperactividad, el autismo y el trastorno de la comunicación social pueden estar asociados."},"it":{"name":"Sindrome da microdelezione Xp22.3","synonyms":["Del(X)(p23)"],"definition":"La sindrome da microdelezione Xp22.3 è causata dalla delezione parziale del cromosoma X. Il quadro clinico è molto variabile (correlato con la lunghezza della delezione); di solito è caratterizzato da ittiosi legata all'X, deficit intellettivo lieve-moderato, sindrome di Kallmann, bassa statura, condrodisplasia puntata e albinismo oculare. Possono associarsi epilessia, deficit di attenzione/iperattività, autismo e difficoltà nella comunicazione sociale."},"nl":{"name":"Xp22.3-microdeletiesyndroom","synonyms":["Del(X)(p23)"],"definition":"Xp22.3 microdeletiesyndroom is een microdeletiesyndroom dat het gevolg is van een partiële deletie van chromosoom X. Het fenotype kan sterk variëren (afhankelijk van de lengte van de deletie), maar de aandoening wordt voornamelijk gekarakteriseerd door X-gebonden ichthyose, milde tot matige intellectuele achterstand, syndroom van Kallmann, kleine gestalte, chondrodysplasia punctata en oculair albinisme. Epilepsie, aandachtsstoornis met hyperactiviteit, autisme en moeilijkheden met sociale communicatie kunnen geassocieerd zijn."},"pt":{"name":"Síndrome de microdeleção Xp22.3","synonyms":["Deleção Xp22 pter","Monossomia Xp22 pter"]},"pl":{"name":"Zespół mikrodelecji Xp22.3","synonyms":["Del(X)(p23)"]},"cs":{"name":"Syndrom Xp22.3 mikrodelece","synonyms":["Del(X)(p23)"]},"uk":{"name":"Синдром мікроделеції Xp22.3","synonyms":["Del(X)(p23)"],"definition":"Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated."},"zh":{"name":"Xp22.3微缺失综合征","synonyms":["Xp23缺失"]},"tr":{"name":"Xp22.3 mikrodelesyon sendromu","synonyms":["Del(X)(p23)"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015606","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4512072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":431,"name":"Ichthyosis-male hypogonadism syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263731,"name":"Partial deletion of the short arm of the chromosome X syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"12657015[PMID]_32670353[PMID]_1519653[PMID]_17591464[PMID]_18925676[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"12657015[PMID]_32670353[PMID]_1519653[PMID]_17591464[PMID]_18925676[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null}]}}