{"orpha":127,"name":"Borjeson-Forssman-Lehmann syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BFLS","Intellectual disability-epilepsy-endocrine disorders syndrome"],"definition":"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-127/","orphanet_url":"https://www.orpha.net/en/disease/detail/127","names":{"fr":{"name":"Syndrome de Borjeson-Forssman-Lehmann","synonyms":["BFLS","Syndrome de déficience intellectuelle-épilepsie-anomalies endocrines"],"definition":"Le syndrome de Borjeson-Forssman-Lehmann (BFLS) est un syndrome rare d'obésité lié à l'X caractérisé par un déficit intellectuel, une obésité tronculaire, une dysmorphie faciale, un hypogonadisme, des doigts effilés et des orteils courts."},"de":{"name":"Borjeson-Forssman-Lehmann-Syndrom","synonyms":["BFLS","Intelligenzminderung-Epilepsie-endokrine Störung-Syndrom"],"definition":"Das Börjeson-Forssman-Lehmann-Syndrom (BFLS) ist ein seltenes, X-chromosomales Adipositas-Syndrom mit geistiger Behinderung, stammbetonter Adipositas, charakteristischen Gesichtsmerkmalen, Hypogonadismus und konischen Fingern und kurzen Zehen."},"es":{"name":"Síndrome de Borjeson-Forssman-Lehmann","synonyms":["Síndrome de discapacidad intelectual-epilepsia-trastornos endocrinos"],"definition":"El síndrome de Borjeson-Forssman-Lehmann (BFLS) es un síndrome de obesidad ligado al X poco frecuente, caracterizado por déficit intelectual, obesidad troncal, rasgos faciales característicos, hipogonadismo, dedos de las manos cónicos y dedos de los pies cortos."},"it":{"name":"Sindrome di Borjeson-Forssman-Lehmann","synonyms":["BFLS"],"definition":"La sindrome di Borjeson-Forssman-Lehmann (BFLS) è una condizione clinica rara con obesità legata all'X, caratterizzata da deficit cognitivo, obesità tronculare, facies tipica, ipogonadismo, dita delle mani affusolate e dei piedi corte."},"nl":{"name":"Syndroom van Borjeson-Forssman-Lehmann","synonyms":["BFLS","Intellectuele achterstand - epilepsie - endocriene stoornissen-syndroom"],"definition":"Borjeson-Forssman-Lehmannsyndroom (BFLS) is een zeldzaam X-gebonden obesitassyndroom gekenmerkt door een intellectuele achterstand, obesitas van de romp, karakteristieke gelaatskenmerken, hypogonadisme, conische vingers en korte tenen."},"pt":{"name":"Síndrome Borjeson-Forssman-Lehmann","synonyms":["BFLS","Síndrome de perturbação do desenvolvimento intelectual-epilepsia-disfunção endócrina"]},"pl":{"name":"Zespół Borjesona, Forssmana i Lehmana","synonyms":["BFLS","Niepełnosprawność intelektualna - padaczka - zaburzenia endokrynologiczne","BFLS","Zespół niepełnosprawności intelektualnej, padaczki i zaburzeń endokrynologicznych"]},"cs":{"name":"Borjesonův-Forssmanův-Lehmannův syndrom","synonyms":["BFLS","Syndrom zahrnující mentální retardaci, epilepsii a endokrinní poruchy","Borjeson-Forssman-Lehmannův syndrom"]},"uk":{"name":"Синдром Борджесона-Форсмана-Лемана","synonyms":["BFLS","Синдром інтелектуальної недостатності-епілепсії-ендокринних розладів"],"definition":"Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes."},"zh":{"name":"Borjeson-Forssman-Lehmann综合征","synonyms":["智力障碍-癫痫-内分泌失调综合征"]},"tr":{"name":"Borjeson-Forssman-Lehmann sendromu","synonyms":["BFLS","Zihinsel yetersizlik-epilepsi-endokrin bozuklukları sendromu"]}},"xrefs":[{"source":"OMIM","code":"301900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD29","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2101263588"},{"source":"MONDO","code":"0010537","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536575","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265339","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"936","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"PHF6","name":"PHD finger protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12415272[PMID]_23229552[PMID]","hgnc":"18145","ensembl":"ENSG00000156531","omim":"300414","loci":["Xq26.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"22190899[PMID]_15994862[PMID]_14756673[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001769","label":"Broad foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001836","label":"Camptodactyly of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}