{"orpha":3132,"name":"Say-Barber-Miller syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3132/","orphanet_url":"https://www.orpha.net/en/disease/detail/3132","names":{"fr":{"name":"Syndrome de Say-Barber-Miller","synonyms":["Syndrome de microcéphalie-hypogammaglobulinémie-immunité anormale"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une microcéphalie, un retard de développement et une déficience intellectuelle, un retard de croissance postnatale, une dysmorphie craniofaciale (front incliné, nez en forme de bec, grandes oreilles proéminentes, micrognathie, palais ogival et craniosynostose), des anomalies immunologiques avec une hypogammaglobulinémie transitoire dans la petite enfance et un chimiotactisme défectueux entraînant des infections récurrentes, ainsi que des phénomènes d'auto-immunité/d'auto-inflammation. Des anomalies squelettiques et un hypogonadisme ont également été rapportés."},"de":{"name":"Say-Barber-Miller-Syndrom","synonyms":["Mikrozephalie - Hypogammablobulinämie - Immundefekt"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, gekennzeichnet durch Mikrozephalie, Entwicklungsverzögerung und Intelligenzminderung, postnatale Wachstumsretardierung, dysmorphe kraniofaziale Merkmale (einschließlich schräger Stirn, schnabelförmiger Nase, große und abstehende Ohren, Mikrognathie, hochgewölbter Gaumen und Kraniosynostose), immunologische Anomalien mit vorübergehender Hypogammaglobulinämie im Säuglingsalter und gestörter Chemotaxis, die zu wiederkehrenden Infektionen führt, sowie autoimmune/autoinflammatorische Phänomene. Es wurde auch über Skelettanomalien und Hypogonadismus berichtet."},"es":{"name":"Síndrome de Say-Barber-Miller","synonyms":["Microcefalia-hipogammaglobulinemia-inmunodeficiencia"],"definition":"Es un síndrome dismórfico/de anomalías congénitas múltiples poco frecuente caracterizado por microcefalia, retraso del desarrollo y discapacidad intelectual, retraso del crecimiento posnatal, características craneofaciales dismórficas (que incluyen frente inclinada, nariz picuda, orejas grandes y prominentes, micrognatia, paladar ojival y craneosinostosis), trastornos inmunológicos con hipogammaglobulinemia transitoria de la infancia y quimiotaxis defectuosa que conducen a infecciones recurrentes, así como alteraciones autoinmunes/autoinflamatorias. También se han descrito anomalías esqueléticas e hipogonadismo."},"it":{"name":"Sindrome di Say-Barber-Miller","synonyms":["Microcefalia - ipogammaglobulinemia - anomalie immunitarie"]},"nl":{"name":"Syndroom van Say-Barber-Miller","synonyms":["Microcefalie - hypogammaglobulinemie - abnormale immuniteit-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door microcefalie, ontwikkelingsachterstand en intellectuele achterstand, postnatale groeiretardatie, dysmorfe craniofaciale kenmerken (waaronder hellend voorhoofd, snavelvormige neus, grote en afstaande oren, micrognathie, hoog gebogen verhemelte, en craniosynostose), immunologische afwijkingen met transiënte hypogammaglobulinemie in de zuigelingentijd en verstoorde chemotaxis met recidiverende infecties tot gevolg, alsook auto-immune/auto-inflammatoire fenomenen. Anomalieën van skelet en hypogonadisme werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome Say-Barber-Miller","synonyms":["Síndrome de microcefalia-hipogamaglobulinemia-imunodeficiência"],"definition":"Síndrome dismórfica/de anomalias congénitas múltiplas rara, caracterizada por microcefalia, atraso no desenvolvimento e perturbação do desenvolvimento intelectual, atraso no crescimento pós-natal, caraterísticas craniofaciais dismórficas (incluindo testa inclinada, nariz em forma de bico, orelhas grandes e salientes, micrognatia, palato ogival e craniossinostose), anomalias imunológicas com hipogamaglobulinemia transitória na infância e alterações da quimiotaxia que conduzem a infeções recorrentes, bem como fenómenos auto-imunes/autoinflamatórios. Foram também descritas anomalias esqueléticas e hipogonadismo."},"pl":{"name":"Zespół Saya, Barbera i Millera","synonyms":["Małogłowie - hipogammaglobulinemia - nieprawidłowa odporność"],"definition":"Rzadki zespół mnogich wad wrodzonych/zespół dysmorficzny charakteryzujący się małogłowiem, opóźnieniem rozwoju i niepełnosprawnością intelektualną, postnatalnym opóźnieniem wzrostu, dysmorficznymi cechami twarzoczaszki (pochylone czoło, dziobiasty nos, duże i odstające uszy, mikrognacja, wysoko wysklepione podniebieniem i kraniosynostoza), zaburzeniami odporności z przejściową hipogammaglobulinemią w okresie niemowlęcym i wadliwą chemotaksją prowadzącą do nawracających infekcji, a zaburzeniami autoimmunologicznymi/autozapalnymi. Zgłaszano także anomalie szkieletowe i hipogonadyzm."},"cs":{"name":"Sayův-Barberové-Millerův syndrom","synonyms":["Syndrom zahrnující mikrocefalii, hypogamaglobulinémii a abnormální imunitu","Say-Barber-Millerův syndrom"]},"uk":{"name":"Синдром Сай-Барбера-Міллера","synonyms":["Синдром мікроцефалії-гіпогаммаглобулінемії- порушеного імунітету"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported."},"zh":{"name":"Say-Barber-Miller综合征","synonyms":["小头畸形-低丙球蛋白血症-免疫异常综合征"]},"tr":{"name":"Say-Barber-Miller sendromu","synonyms":["Mikrosefali-hipogammaglobulinemi-anormal bağışıklık sendromu"]}},"xrefs":[{"source":"OMIM","code":"251240","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"720025180"},{"source":"MONDO","code":"0009620","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536618","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931267","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"239","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":101977,"name":"Immunodeficiency due to predominantly antibodies defect","classifications":[156,195]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3746838[PMID]_8728697[PMID]_19108857[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3746838[PMID]_8728697[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-14","source":"19108857[PMID]_10189087[PMID]_10733244[PMID]_8728697[PMID]_3746838[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005432","label":"Transient hypogammaglobulinemia of infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012219","label":"Erythema nodosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040238","label":"Impaired neutrophil chemotaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002654","label":"Multiple epiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005001","label":"Recurrent patellar dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002843","label":"Abnormal T cell morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009553","label":"Abnormality of the hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011431","label":"Fetal fifth finger clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007034","label":"Generalized hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007105","label":"Infantile encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031008","label":"Lingual dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001583","label":"Rotary nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001772","label":"Talipes equinovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005659","label":"Thoracic kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001193","label":"Ulnar deviation of the hand or of fingers of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}