{"orpha":293725,"name":"Blepharophimosis-intellectual disability syndrome, Verloes type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BMRS type V","BMRS, Verloes type","Blepharophimosis-intellectual disability syndrome type V"],"definition":"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293725/","orphanet_url":"https://www.orpha.net/en/disease/detail/293725","names":{"fr":{"name":"Syndrome de blépharophimosis-déficience intellectuelle type Verloes","synonyms":["BMRS type V","BMRS type Verloes"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une microcéphalie congénitale, une épilepsie sévère avec hypsarythmie, des pouces en adduction, des anomalies génitales et une fonction thyroïdienne normale. Les autres traits caractéristiques sont une hypotonie, un retard psychomoteur modéré à sévère et une dysmorphie faciale caractéristique (visage rond et joufflu, blépharophimosis, nez large et bulbeux avec ailes du nez larges, oreilles orientées en arrière avec pavillons auriculaires dysplasiques, bouche étroite, fente palatine et légère micrognathie)."},"de":{"name":"Blepharophimose- Intelligenzminderung-Syndrom, Typ Verloes","synonyms":["BMRS Typ V","BMRS Typ Verloes","Blepharophimose- Intelligenzminderung-Syndrom Typ V"]},"es":{"name":"Síndrome de blefarofimosis-discapacidad intelectual tipo Verloes","synonyms":["BMRS tipo V","BMRS tipo Verloes","Síndrome de blefarofimosis-discapacidad intelectual tipo V"],"definition":"El síndrome de blefarofimosis - discapacidad intelectual tipo Verloes es un síndrome dismórfico por múltiples anomalías congénitas, genético y poco frecuente, caracterizado por microcefalia congénita, epilepsia grave con hipsarritmia, pulgares aductos, anomalías genitales y función tiroidea normal. Otras características adicionales incluyen hipotonía, retraso psicomotor de moderado a grave y dismorfia facial característica (incluyendo cara redonda con mejillas prominentes, blefarofimosis, nariz grande y bulbosa con alas nasales anchas, orejas rotadas posteriormente con cornetes displásicos, boca estrecha, labio leporino y leve micrognatia)."},"it":{"name":"Sindrome blefarofimosi-disabilità intellettiva tipo Verloes","synonyms":["BMRS, tipo V","BMRS, tipo Verloes","Sindrome blefarofimosi-deficit cognitivo, tipo V"],"definition":"La sindrome che associa la blefarofimosi alla disabilità intellettiva tipo Verloes è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da microcefalia congenita, epilessia grave con ipsaritmia, pollici addotti, anomalie dei genitali e funzione tiroidea normale. Altri segni clinici sono l'ipotonia, il ritardo dello sviluppo psicomotorio moderato-grave e i dismorfismi facciali caratteristici (viso arrotondato con guance prominenti, blefarofimosi, naso grande e globoso con ali ampie, orecchie ruotate posteriormente con conche displastiche, bocca piccola, palatoschisi e lieve micrognazia)."},"nl":{"name":"Blefarofimose - intellectuele achterstand-syndroom, Verloes-type","synonyms":["BMRS type V","BMRS, Verloes-type","Blefarofimose - intellectuele achterstand-syndroom type V"],"definition":"Blefarofimose - intellectuele achterstand-syndroom, Verloes-type is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door congenitale microcefalie, ernstige epilepsie met hypsaritmie, geadduceerde duimen, abnormale genitaliën, en normale schildklierfunctie. Bijkomende typische kenmerken zijn hypotonie, matige tot ernstige psychomotorische achterstand, en karakteristieke faciale dysmorfie (met onder meer een rond gezicht met uitgesproken wangen, blefarofimose, grote en bolle neus met brede neusvleugels, naar achteren gedraaide oren met dysplastische neusschelpen, smalle mond, gespleten verhemelte, en milde micrognathie)."},"pt":{"name":"Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo Verloes","synonyms":["BMRS tipo V","BMRS, tipo Verloes","Síndrome de blefarofimose-perturbação do desenvolvimento intelectual tipo V"]},"pl":{"name":"Zespół zwężenie szpar powiekowych-niepełnosprawność intelektualna, typ Verloesa","synonyms":["BMRS typu V","BMRS, typ Verloesa","Zespół zwężenie szpar powiekowych-niepełnosprawność intelektualna typu V"],"definition":"*Zespół zwężenie szpar powiekowych-niepełnosprawność intelektualna, typ Verloesa, jest rzadkim, genetycznie uwarunkowanym zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się wrodzonym małogłowiem, ciężką padaczką z hipsarytmią, przywiedzionymi kciukami, nieprawidłowymi narządami płciowymi zewnętrznymi i prawidłową czynnością tarczycy. Dodatkowe charakterystyczne cechy to: hipotonia, umiarkowane do ciężkiego opóźnienie rozwoju psychoruchowego i charakterystyczna dysmorfia twarzy (okrągła twarz z wydatnymi policzkami, zwężone i krótkie szpary powiekowe, duży, bulwiasty nos z szerokimi skrzydełkami nosa, zrotowane ku tyłowi uszy z dysplastycznymi małżowinami, wąskie usta, rozszczep podniebienia i łagodna mikrognacja) są dodatkowymi charakterystycznymi cechami.inf brsup"},"cs":{"name":"Syndrom zahrnující blefarofimózu a mentální retardaci, Verloesův typ","synonyms":["BMRS, typ V","BMRS, typ Verloes","Syndrom zahrnující blefarofimózu a omezení intelektu, typ V"]},"uk":{"name":"Синдром блефарофімозу-інтелектуальної недостатності, тип Верлоеса","synonyms":["Синдром блефарофімозу - інтелектуальної недостатності, тип V","BMRS типу V","BMRS типу Verloes"],"definition":"A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features."},"zh":{"name":"睑裂-智力障碍综合征Verloes型","synonyms":["睑裂-智力障碍综合征V型"],"definition":"Verloes型眼睑裂狭小-智力障碍综合征是一种罕见的遗传性多发性先天性畸形/畸形综合征，其特征是先天性小头畸形、重度癫痫伴高度失律、拇指内收、外生殖器异常和甲状腺功能正常。其他特征有肌张力低下、中度至重度精神运动发育迟缓和特征性面部畸形（包括面颊突出的圆脸、眼睑裂狭小、鼻翼宽大的蒜头鼻、后旋耳伴鼻甲发育不良、口部狭窄、腭裂和轻度小下颌畸形）。"},"tr":{"name":"Blefarofimoz-zihinsel yetersizlik sendromu, Verloes tipi","synonyms":["BMRS tip V","BMRS, Verloes türü","Blefarofimozis-zihinsel yetersizlik sendromu tip V"]}},"xrefs":[{"source":"OMIM","code":"604314","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011432","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755262","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":293642,"name":"Blepharophimosis-intellectual disability syndrome","classifications":[147,156,181,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-07","source":"16700052[PMID]","terms":[{"hpo":"HP:0100587","label":"Abnormality of the preputium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002190","label":"Choroid plexus cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000807","label":"Glandular hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000395","label":"Prominent antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011251","label":"Underdeveloped antitragus","frequency":"Occasional (29-5%)","criteria":null}]}}