{"orpha":3047,"name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome","SBBYS variant of Ohdo syndrome","SBBYSS","Say-Barber-Biesecker-Young-Simpson syndrome"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3047/","orphanet_url":"https://www.orpha.net/en/disease/detail/3047","names":{"fr":{"name":"Syndrome de blépharophimosis-déficience intellectuelle type SBBYS","synonyms":["SBBYSS","Syndrome d'hypothyroïdie-dysmorphie-polydactylie post-axiale-déficience intellectuelle","Syndrome de Say-Barber-Biesecker-Young-Simpson","Variant SBBYS du syndrome d'Ohdo"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par l'association d'un phénotype facial typique avec une microcéphalie, une hypothyroïdie congénitale, une atteinte du squelette (polydactylie, pouce(s) long(s) et premier(s) orteil(s) long(s), et hypoplasie/agénésie de la rotule), et un certain degré de retard global de développement, d'hypotonie et de déficience intellectuelle. Les caractéristiques faciales sont un visage immobile faisant penser à un masque, un blépharophimosis et un ptosis sévères, des malformations du canal lacrymal, un large pont nasal, une pointe nasale bulbeuse, une petite bouche, une lèvre supérieure mince, des dents hypoplasiques et de petites oreilles d'implantation basse. Des anomalies rénales et génitales, généralement une cryptorchidie, sont souvent présentes chez les hommes atteints du syndrome. Les malformations cardiaques congénitales et le retard de croissance sont inconstants."},"de":{"name":"Blepharophimose-Intelligenzminderung-Syndrom Typ SBBYS","synonyms":["Hypothyreose-Dysmorphien-postaxiale Polydaktylie-Intelligenzminderung-Syndrom","Ohdo-Syndrom, SBBYS-Variante","SBBYSS","Say-Barber-Biesecker-Young-Simpson-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom mit multiplen angeborenen Anomalien, das durch die Kombination eines charakteristischen Gesichtsphänotyps mit Mikrozephalie in Verbindung mit angeborener Hypothyreose, Skelettbeteiligung (Polydaktylie, langer Daumen und lange erste Zehe(n) und Patellahypoplasie/-agenesie) und einem gewissen Grad an globaler Entwicklungsverzögerung, Hypotonie und Intelligenzminderung gekennzeichnet ist. Die typischen fazialen Merkmale umfassen ein maskenhaftes Gesicht, schwere Blepharophimose und Ptosis, Anomalien der Tränenkanäle, ein breiter Nasenrücken, eine knollige Nasenspitze, ein kleiner Mund, eine dünne Oberlippe, hypoplastische Zähne und kleine, tief angesetzte Ohren. Nieren- und Genitalfehlbildungen, meist Kryptorchismus, sind bei männlichen Betroffenen häufig. Angeborene Herzfehler und Wachstumsverzögerungen kommen in unterschiedlichem Ausmaß vor."},"es":{"name":"Síndrome de blefarofimosis-discapacidad intelectual tipo SBBYS","synonyms":["SBBYSS","Síndrome de Say-Barber-Biesecker-Young-Simpson","Síndrome de hipotiroidismo-dismorfia-polidactilia postaxial-discapacidad intelectual","Variante SBBYS del síndrome de Ohdo"],"definition":"Es un síndrome poco frecuente de origen genético con anomalías congénitas múltiples caracterizado por un fenotipo facial típico con microcefalia asociado a hipotiroidismo congénito, afectación esquelética (polidactilia, pulgar(es) largo(s) y primer dedo del pie largo(s), e hipoplasia/agenesia patelar, así como cierto grado de retraso global del desarrollo, hipotonía y discapacidad intelectual. Los rasgos faciales incluyen una cara inmóvil tipo máscara, blefarofimosis y ptosis graves, anomalías del conducto lagrimal, puente nasal ancho, punta nasal bulbosa, boca pequeña, labio superior fino, dientes hipoplásicos y pabellones auriculares pequeños y de implantación baja. Los varones afectos suelen presentar anomalías renales y genitales, generalmente criptorquidia. Los defectos cardíacos congénitos y el retraso del crecimiento están presentes de forma variable."},"it":{"name":"Sindrome blefarofimosi-disabilità intellettiva, tipo SBBYS","synonyms":["SBBYSS","Sindrome da ipotiroidismo, dismorfismi, polidattilia postassiale, disabilità intellettiva","Sindrome di Say-Barber-Biesecker-Young-Simpson","Variante SBBYS della sindrome di Ohdo","Sindrome ipotiroidismo-dismorfismi-polidattilia postassiale-disabilità intellettiva"],"definition":"La sindrome blefarofimosi-disabilità intellettiva tipo SBBYS (SBBYS) è una malattia genetica da anomalie congenite multiple, caratterizzata da una facies peculiare con microcefalia, associata ad ipotiroidismo congenito, anomalie scheletriche (polidattilia, allungamento mono- o bilaterale del pollice e dell'alluce, e ipoplasia/agenesia della rotula), ritardo dello sviluppo globale di gravità variabile, ipotonia e disabilità intellettiva. I dismorfismi facciali comprendono il viso immobile simile ad una maschera, la blefarofimosi e la ptosi gravi, le anomalie dei dotti lacrimali, la sella nasale ampia, la punta del naso globosa, la bocca piccola, il labbro superiore sottile, l'ipoplasia dei denti e le orecchie piccole a basso impianto. Spesso i maschi presentano anomalie dei reni e dei genitali (in genere criptorchidismo). I pazienti possono presentare anche cardiopatie congenite e ritardo della crescita."},"nl":{"name":"Blefarofimose - intellectuele achterstand-syndroom, SBBYS-type","synonyms":["Hypothyreoïdie - dysmorfie - postaxiale polydactylie - intellectuele achterstand-syndroom","SBBYS-variant van syndroom van Ohdo","SBBYSS","Syndroom van Say-Barber-Biesecker-Young-Simpson"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekenmerkt door de associatie van een typisch faciaal fenotype met microcefalie geassocieerd met congenitale hypothyreoïdie, betrokkenheid van skelet (polydactylie, lange duim/duimen en lange eerste teen/tenen, en hypoplasie/agenesie van patella), en enige mate van algehele ontwikkelingsachterstand, hypotonie en intellectuele achterstand. Gelaatskenmerken zijn onder meer een immobiel maskergelaat, ernstige blefarofimose en ptosis, anomalieën van traankanaal, brede neusbrug, knolvormige neuspunt, kleine mond, dunne bovenlip, hypoplastische tanden, en kleine, laagstaande oren. Anomalieën van nieren en geslachtsorganen, meestal cryptorchisme, zijn vaak aanwezig bij getroffen mannen. Congenitale hartdefecten en groeiachterstand zijn variabel aanwezig."},"pt":{"name":"Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo SBBYS","synonyms":["SBBYSS","Síndrome Say-Barber-Biesecker-Young-Simpson","Síndrome de hipotiroidismo-dismorfia-polidatilia pós-axial-perturbação do desenvolvimento intelectual","Variante SBBYS da síndrome Ohdo"]},"pl":{"name":"Zespół zwężenia szpary powiekowej i niepełnosprawności intelektualnej typu SBBYS","synonyms":["Niedoczynność tarczycy- dysmorfia - polidaktylia pozaosiowa - niepełnosprawność intelektualna","Zespół Say'a, Barbera, Bieseckera, Younga i Simpsona","Zespół zwężenie szpary powiekowej-upośledzenie umysłowe typu zespołu Say'a, Barbera, Bieseckera, Younga i Simpsona"]},"cs":{"name":"Syndrom zahrnující blefarofimózu a mentální retardaci, SBBYS typ","synonyms":["Syndrom zahrnující hypotyreózu, dysmorfismus, postaxiální polydaktylii a mentální retardaci","SBBYSS","Sayův-Barberův-Bieseckerův-Youngův-Simpsonův syndrom","Say-Barber-Biesecker-Young-Simpsonův syndrom"]},"uk":{"name":"Синдром блефарофімозу- інтелектуальної недостатності, тип SBBYS","synonyms":["Синдром гіпотиреозу - дисморфізму - постаксіальної полідактилії - інтелектуальної недостатності","Синдром Сэя-Барбера-Бизекера-Янга-Симпсона","SBBYS варіант синдрому Одо","SBBYSS"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present."},"zh":{"name":"睑裂狭小-智力障碍综合征，SBBYS亚型","synonyms":["Say-Barber-Biesecker-Young-Simpson综合征"]},"tr":{"name":"Blefarofimozis-zihinsel yetersizlik sendromu, SBBYS tipi","synonyms":["Hipotiroidi-dismorfizm-postaksiyal polidaktili-zihinsel yetersizlik sendromu","SBBYSS","Say-Barber-Biesecker-Young-Simpson sendromu"]}},"xrefs":[{"source":"OMIM","code":"603736","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1678403283"},{"source":"MONDO","code":"0011365","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863557","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]},{"orpha":597749,"name":"KAT6B-related multiple congenital anomalies syndrome","classifications":[147,156,181,185,199]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"KAT6B","name":"lysine acetyltransferase 6B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22715153[PMID]_23236640[PMID]","hgnc":"17582","ensembl":"ENSG00000156650","omim":"605880","loci":["10q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":122.0,"area":"Worldwide","status":"Validated","source":"[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":"2017-07-11","source":null,"terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","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:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004426","label":"Abnormality of the cheek","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100028","label":"Ectopic thyroid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008191","label":"Thyroid agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008188","label":"Thyroid dysgenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100648","label":"Neoplasm of the tongue","frequency":"Occasional (29-5%)","criteria":null}]}}