Shprintzen-Goldberg omphalocele syndrome (Q94217)
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Shprintzen Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterised by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1570235082 |
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| English | Shprintzen-Goldberg omphalocele syndrome |
Shprintzen Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterised by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. |
