Branchio-skeleto-genital syndrome (Q94126): Difference between revisions
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Revision as of 09:14, 16 August 2026
Brachio-skeleto-genital syndrome is a multiple congenital anomalies syndrome characterised by intellectual deficit, maxillary hypoplasia, mandibular prognathism, dental cysts, a broad nasal bridge, hypertelorism, bifid uvula or partial cleft plate, pectus excavatum, fused cervical spinous processes, penoscrotal hypospadias, and Schmorl nodes (vertical disc herniations through the cartilaginous vertebral body endplates).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1707825158 |
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| English | Branchio-skeleto-genital syndrome |
Brachio-skeleto-genital syndrome is a multiple congenital anomalies syndrome characterised by intellectual deficit, maxillary hypoplasia, mandibular prognathism, dental cysts, a broad nasal bridge, hypertelorism, bifid uvula or partial cleft plate, pectus excavatum, fused cervical spinous processes, penoscrotal hypospadias, and Schmorl nodes (vertical disc herniations through the cartilaginous vertebral body endplates). |
