{"orpha":2057,"name":"Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Frydman-Cohen-Karmon syndrome"],"definition":"A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2057/","orphanet_url":"https://www.orpha.net/en/disease/detail/2057","names":{"fr":{"name":"Syndrome de blépharophimosis-ptosis-ésotropie-syndactylie-petite taille","synonyms":["Syndrome de Frydman-Cohen-Karmon"],"definition":"Syndrome de blépharophimosis-ptosis-ésotropie-syndactylie-petite taille est caractérisé par l'association d'un blépharophimosis, d'un ptosis, d'une ésotropie en V et d'une faiblesse des muscles extraoculaires et frontaux avec une syndactylie des orteils, une petite taille, un prognathisme, et une hypertrophie et une fusion des sourcils. Il a été décrit chez six personnes appartenant à trois familles apparentées. Le mode de transmission est autosomique récessif."},"de":{"name":"Blepharophimose-Ptosis-Esotropie-Syndaktylie-Kleinwuchs-Syndrom","synonyms":["Frydman-Cohen-Karmon-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch gemeinsames Auftreten von Blepharophimose, Ptose, V-Esotropie, Schwäche der Augen- und Stirnmuskeln, Syndaktylie der Zehen, Kleinwuchs, Progenie, Hypertrophie der Augenbrauen und Synophris."},"es":{"name":"Síndrome de blefarofimosis-ptosis-esotropía-sindactilia-talla baja","definition":"Es un síndrome poco frecuente caracterizado por la asociación de blefarofimosis y ptosis, esotropía en V, y debilidad de los músculos extraoculares y frontales con sindactilia de los dedos de los pies, talla baja, prognatismo, e hipertrofia y fusión de las cejas."},"it":{"name":"Blefarofimosi - ptosi - esotropia - sindattilia - bassa statura","synonyms":["Sindrome di Frydman-Cohen-Karmon"]},"nl":{"name":"Blefarofimose - ptose - esotropie - syndactylie - kleine gestalte-syndroom","synonyms":["Syndroom van Frydman-Cohen-Karmon"],"definition":"Een zeldzaam syndroom gekarakteriseerd door de associatie van blefarofimose en ptose, V-esotropie, en zwakte van extraoculaire en frontale spieren met syndactylie van tenen, kleine gestalte, prognathie, en hypertrofie en fusie van de wenkbrauwen."},"pt":{"name":"Síndrome de blefarofimose-ptose-esotropia-sindactilia-baixa estatura","synonyms":["Síndrome Frydman-Cohen-Karmon"]},"pl":{"name":"Zwężenie szpary powiekowej - ptoza- esotropia - syndaktylia - niski wzrost","synonyms":["Zespół Frydmana, Cohena i Karmona"]},"cs":{"name":"Syndrom zahrnující blefarofimózu, ptózu, ezotropii, syndaktylii a malý vzrůst","synonyms":["Frydmanův-Cohenův-Karmonův syndrom","Frydman-Cohen-Karmonův syndrom"]},"uk":{"name":"Синдром блефарофімозу-птозу-езотропії-синдактилії-низького зросту","synonyms":["Синдром Фрідмана-Коена-Кармона"],"definition":"A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows."},"zh":{"name":"睑裂狭小-上睑下垂-内斜视-并指(趾)-身材矮小综合征","synonyms":["Frydman-Cohen-Karmon 综合征"]},"tr":{"name":"Blefarofimoz-pitoz-ezotropya-sindaktili kısa boy sendromu","synonyms":["Frydman-Cohen-Karmon sendromu"]}},"xrefs":[{"source":"OMIM","code":"210745","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008875","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303550","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"1311991[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1311991[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null}]}}