{"orpha":1299,"name":"Branchioskeletogenital syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BSG syndrome","Elsahy-Waters syndrome"],"definition":"Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1299/","orphanet_url":"https://www.orpha.net/en/disease/detail/1299","names":{"fr":{"name":"Syndrome branchiosquelettogénital","synonyms":["Syndrome BSG","Syndrome Elsahy-Waters"],"definition":"Un syndrome dysmorphique/d'anomalies congénitales multiples rare caractérisé par un déficit intellectuel modéré, une dysmorphie faciale caractéristique (incluant une brachycéphalie, une asymétrie faciale, un hypertélorisme prononcé, une blépharochalasie, un proptosis, un nez large avec une arête nasale concave et une pointe bulbeuse, une hypoplasie de l'étage moyen du visage, une uvule bifide ou une fente palatine partielle, et une prognathie), des anomalies dentaires progressives (kystes dentigères, dysplasie dentinaire radiculaire, perte précoce des dents), des fusions vertébrales (affectant principalement les C2-C3) et un hypospadias. Une perte de l'audition est aussi rapportée."},"de":{"name":"Branchio-skeleto-genitales Syndrom","synonyms":["BSG-Syndrom","Elsahy-Waters-Syndrom"],"definition":"Ein seltenes Fehlbildungs-Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das gekennzeichnet ist durch eine moderate Inntelligenzminderung, distinkte kraniofaziale Merkmale (einschließlich Brachyzephalie, Gesichtsasymmetrie, ausgeprägtem Hypertelorismus, Blepharochalasis, Proptosis, eine breite Nase mit konkavem Nasenkamm und knolliger Nasenspitze, Mittelgesichtshypoplasie, bifides Gaumenzäpfchen oder partielle Gaumenspalte und Prognathismus), fortschreitende Zahnanomalien (Dentigeröse Zysten, radikuläre Dentin-Dysplasie und früher Zahnverlust), Wirbelfusionen (insbesondere C2-C3) und Hypospadie. Schwerhörigkeit ist ein zusätzliches beobachtetes Merkmal."},"es":{"name":"Síndrome branquio-esqueleto-genital","synonyms":["Síndrome BSG","Síndrome de Elsahy-Waters"],"definition":"El síndrome braquio-esqueleto-genital es un síndrome dismórfico de múltiples anomalías congénitas poco frecuente caracterizado por discapacidad intelectual moderada, rasgos craneofaciales característicos que incluyen: braquicefalia, asimetría facial, marcado hipertelorismo, blefarocalasia (parpado superior arrugado y laxo), proptosis, nariz ancha con puente nasal cóncavo y punta bulbosa, hipoplasia mediofacial, úvula bífida o paladar parcialmente hendido, y prognatismo. Otras malformaciones asociadas son: anomalías dentarias progresivas (quistes dentígenos, displasia radicular de la dentina y pérdida temprana de los dientes), fusiones vertebrales (particularmente de C2-C3), e hipospadias. Se observa pérdida de audición como característica adicional."},"it":{"name":"Sindrome branchio-scheletro-genitale","synonyms":["Sindrome BSG"],"definition":"La sindrome branchio-scheletro-genitale è una malattia rara da difetti/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva moderata, dismorfismi craniofacciali caratteristici (brachicefalia, asimmetria del volto, ipertelorismo marcato, blefarocalasi, proptosi, naso grosso con cresta concava e punta globosa, ipoplasia medio-facciale, ugola bifida o palatoschisi parziale, prognatismo), anomalie ingravescenti dei denti (cisti dentigere, displasia radicolare della dentina e perdita precoce dei denti), fusioni vertebrali (in particolare C2-C3) e ipospadia. Può associarsi a sordità."},"nl":{"name":"Branchioskeletogenitaal syndroom","synonyms":["BSG-syndroom","Syndroom van Elsahy-Waters"],"definition":"Branchio-skeleto-genitaal syndroom is een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door matige intellectuele achterstand, typische craniofaciale kenmerken (waaronder brachycefalie, faciale asymmetrie, opvallend hypertelorisme, blefarochalase, proptosis, een brede neus met concave neusbrug en bolle neuspunt, hypoplasie van het middengezicht, gespleten uvula (huig) of partieel gespleten verhemelte, en prognathisme), progressieve tandanomalieën (dentogene cysten, radiculaire dentinedysplasie en vroegtijdig verlies van tanden), vertebrale fusies (voornamelijk van C2-C3), en hypospadieën. Gehoorverlies is een bijkomend waargenomen kenmerk."},"pt":{"name":"Síndrome braquio-esqueleto-genital"},"pl":{"name":"Zespół skrzelowo-szkieletowo-płciowy","synonyms":["Zespół BSG","Zespół BSG","Zespół Elsahy i Watersa"]},"cs":{"name":"Branchioskeletogenitální syndrom","synonyms":["BSG syndrom"]},"uk":{"name":"Бранхіоскелетогенітальний синдром","synonyms":["Синдром BSG","Синдром Елсахі-Уотерса"],"definition":"Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature."},"zh":{"name":"鳃骨生殖器综合征","synonyms":["Elsahy-Waters综合征"]},"tr":{"name":"Brankioskeletogenital sendromu","synonyms":["BSG sendromu","Elsahy-Waters sendromu"]}},"xrefs":[{"source":"OMIM","code":"211380","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1707825158"},{"source":"MONDO","code":"0008885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537084","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0809936","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"955","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":157788,"name":"Hypospadias-hypertelorism-coloboma and deafness syndrome","status":"inactive"}],"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":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"CDH11","name":"cadherin 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28988429[PMID]_29271567[PMID]","hgnc":"1750","ensembl":"ENSG00000140937","omim":"600023","loci":["16q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"5141271[PMID]_9843000[PMID]_20949527[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5141271[PMID]_9843000[PMID]_20949527[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-05","source":"20949527[PMID]_6575818[PMID]_7625440[PMID]_5141271[PMID]","terms":[{"hpo":"HP:0000309","label":"Abnormal midface morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010299","label":"Abnormality of dentin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002679","label":"Abnormality of the sella turcica","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008516","label":"Abnormality of the vertebral spinous processes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010724","label":"Advanced pneumatization of the mastoid process","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009907","label":"Attached earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010749","label":"Blepharochalasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000808","label":"Penoscrotal hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000607","label":"Periorbital wrinkles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011072","label":"Rootless teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100334","label":"Unilateral cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003423","label":"Thoracolumbar kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000071","label":"Ureteral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000042","label":"Absent external genitalia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002561","label":"Absent nipple","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009818","label":"Amelia involving the lower limbs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002836","label":"Bladder exstrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009814","label":"Upper limb peromelia","frequency":"Very rare (<4-1%)","criteria":null}]}}