Shprintzen-Goldberg omphalocele syndrome (Q94217): Difference between revisions
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Síndrome de onfalocele de Shprintzen-Goldberg é uma síndrome de malformação hereditária muito rara caracterizada por onfalocele, escoliose, características dismórficas leves (fissuras palpebrais inclinadas para baixo, pálpebras em forma de S e lábio superior fino), hipoplasia laríngea e faríngea e dificuldades de aprendizagem. | |||
| description / en | description / en | ||
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. | |||
Revision as of 09:20, 16 August 2026
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 |
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| 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. |
