Branchio-skeleto-genital syndrome (Q94126): Difference between revisions
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Síndrome braquio-esqueleto-genital é uma síndrome de anomalias congênitas múltiplas caracterizada por déficit intelectual, hipoplasia maxilar, prognatismo mandibular, cistos dentais, ponte nasal larga, hipertelorismo, úvula bífida ou placa de fenda parcial, "pectus excavatum", processos espinhosos cervicais fundidos, hipospádia penoscrotal e nódulos de Schmorl (hérnias de disco verticais através das placas terminais do corpo vertebral cartilaginoso). | |||
| description / en | description / en | ||
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). | |||
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). |
