SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/719097002
http://purl.bioontology.org/ontology/SNOMEDCT/719097002
Preferred Name

BSG syndrome

Definitions
An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family. The syndrome has characteristics of 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.
Synonyms
Branchio-skeleto-genital syndrome
Branchioskeletogenital syndrome (disorder)
Branchioskeletogenital syndrome
Type http://www.w3.org/2002/07/owl#Class
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