Omphalocele syndrome, Shprintzen-Goldberg type
ORPHA:3164· ICD-10 Q79.2
Definition
ShprintzenGoldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal