{"orpha":572333,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome plus","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["3q23 microdeletion syndrome","BPES plus"],"definition":"A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene <i>FOXL2</i>, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-572333/","orphanet_url":"https://www.orpha.net/en/disease/detail/572333","names":{"fr":{"name":"Syndrome de blépharophimosis-ptosis-épicanthus inversus plus","synonyms":["BPES plus","Syndrome de microdélétion 3q23"],"definition":"Maladie rare de l'annexe oculaire caractérisée par un phénotype étendu de syndrome de blépharophimosis, ptosis, épicanthus inversus et télécanthus (BPES). Lorsque le BPES est dû à une microdélétion qui englobe d'autres gènes, en plus du gène pathogène <i>FOXL2</i>, le patient présente d'autres signes et symptômes, tels qu'une déficience intellectuelle, une anomalie génitale externe, une diplégie spastique et un retard de parole. Une microcéphalie acquise peut aussi être observée."},"de":{"name":"Blepharophimose-Epicanthus inversus-Ptosis-Syndrom plus","synonyms":["BPES plus","Mikrodeletionssyndrom 3q23"],"definition":"Eine seltene Störung der Augenanhangsgebilde, die durch einen erweiterten Phänotyp von Blepharophimose, Ptosis, Epikanthus inversus und Telechantus-Syndrom (BPES) gekennzeichnet ist. Wenn BPES durch eine Mikrodeletion verursacht wird, die neben dem ursächlichen Gen <i>FOXL2</i> auch andere Gene umfasst, weist der Patient zusätzliche Merkmale auf, darunter Intelligenzminderung, Anomalien der äußeren Genitalien, spastische Diplegie und Sprachverzögerung. Auch eine erworbene Mikrozephalie kann beobachtet werden."},"es":{"name":"Síndrome de blefarofimosis-ptosis-epicanto inverso plus","synonyms":["BPES plus","Síndrome de microdeleción 3q23"],"definition":"Es un trastorno poco frecuente de los anexos oculares caracterizado por un fenotipo extendido de síndrome de blefarofimosis-ptosis-epicanto inverso y telecanto (BPES). Cuando el BPES está causado por una microdeleción que abarca a otros genes además del gen causante <i>FOXL2</i>, el paciente manifiesta características adicionales que incluyen discapacidad intelectual, anomalías genitales externas, diplejía espástica y retraso del habla. También se puede observar microcefalia adquirida."},"it":{"name":"Sindrome blefarofimosi, ptosi, epicanto inverso plus","synonyms":["BPES plus","Sindrome da microdelezione 3q23"]},"nl":{"name":"Blefarofimose - ptosis - epicanthus inversus-syndroom plus","synonyms":["3q23-microdeletiesyndroom","BPES plus"],"definition":"Een zeldzame aandoening van adnex van oog, gekenmerkt door een uitgebreid fenotype van syndroom van blefarofimose, ptosis, epicanthus inversus en telecanthus (BPES). Wanneer BPES wordt veroorzaakt door een microdeletie die naast het causale gen <i>FOXL2</i> ook nog andere genen omvat, vertoont de patiënt bijkomende kenmerken, waaronder intellectuele achterstand, anomalie van uitwendige geslachtsorganen, spastische diplegie, en spraakachterstand. Verworven microcefalie kan ook waargenomen worden."},"pt":{"name":"Síndrome plus de blefarofimose-ptose-epicanto inverso","definition":"Doença rara dos anexos oculares caracterizada por um fenótipo alargado da síndrome de blefarofimose, ptose, epicanto inverso e telecanto (BPES). Quando a BPES é causada por uma microdeleção que abrange outros genes para além do gene causador <i>FOXL2</i>, o doente apresenta características adicionais, incluindo perturbação do desenvolvimento intelectual, anomalias genitais externas, diplegia espástica e atraso na linguagem. Também pode ser observada microcefalia adquirida."},"pl":{"name":"Zespół zwężenia szpar powiekowych, opadania powiek i odwróconych fałdów nakątnych plus","synonyms":["3q23 microdeletion syndrome","BPES plus"],"definition":"Rzadka choroba przydatków oka, mieszcząca się w szerszym fenotypie BPES (zwężenie szpar powiekowych- - opadanie powiek – odwrócona zmarszczka nakątna i telekantus). Gdy BPES jest spowodowane mikrodelecją obejmującą inne geny oprócz genu sprawczego FOXL2, u pacjenta występują dodatkowe cechy, w tym niepełnosprawność intelektualna, wada zewnętrznych narządów płciowych, obustronne porażenie spastyczne i opóźnienie mowy. Można towarzyszyć nabyte małogłowie."},"cs":{"name":"Syndrom zahrnující blefarofimózu, ptózu a epicanthus inversus, plus","synonyms":["3q23 microdeletion syndrome","BPES plus"]},"uk":{"name":"Синдром блефарофімозу-птозу-зворотнього епікантусу плюс","synonyms":["Синдром мікроделеції 3q23","BPES plus"],"definition":"A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telechantus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene <i>FOXL2</i>, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed."},"zh":{"name":"睑裂狭小-上睑下垂-倒转型内眦赘皮综合征","synonyms":["染色体3q23微缺失综合征"]},"tr":{"name":"Blefarofimoz-pitoz-epikantus inversus sendromu plus","synonyms":["BPES artı","3q23 mikrodelesyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"249272729"},{"source":"MONDO","code":"0035521","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437588","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262019,"name":"Partial deletion of the long arm of chromosome 3 syndrome","classifications":[147,156]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]},{"orpha":98575,"name":"Syndromic telecanthus","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"FOXL2","name":"forkhead box L2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21934608[PMID]_25032695[PMID]_24725350[PMID]","hgnc":"1092","ensembl":"ENSG00000183770","omim":"605597","loci":["3q22.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-30","source":"20301614[PMID]_31077882[PMID]_31048069[PMID]_33806295[PMID]_27914838[PMID]","terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000537","label":"Epicanthus inversus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011481","label":"Abnormal lacrimal duct morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000633","label":"Decreased lacrimation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007656","label":"Lacrimal gland aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008233","label":"Decreased circulating progesterone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032514","label":"Duplicated lacrimal punctum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010748","label":"Ectopic lacrimal punctum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008232","label":"Elevated circulating follicle stimulating hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011969","label":"Elevated circulating luteinizing hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008222","label":"Female infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007732","label":"Lacrimal gland hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025572","label":"Punctal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007835","label":"S-shaped palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null}]}}