Branchio-skeleto-genital syndrome OMIM:211380 UMLS:C1859384 ICD10:Q87.8 orphanet Brachio-skeleto-genital (BSG) syndrome is an extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. Genetic urogenital tract malformation Rare genetic developmental defect during embryogenesis Rare genetic intellectual disability with developmental anomaly