omphalocele syndrome, Shprintzen-Goldberg type
MONDO:0008425Mondo
Findings
No curated finding names omphalocele syndrome, Shprintzen-Goldberg type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Shprintzen-Goldberg 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.
Definition from the Mondo Disease Ontology (MONDO:0008425), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal eyelash morphologyHPOHP:0000499
- Very frequent (80% to 99% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Very frequent (80% to 99% of cases)
- Anteroposteriorly shortened larynxHPOHP:0005956
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypoplasia of the pharynxHPOHP:0009555
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
Show the remaining 9
- OmphaloceleHPOHP:0001539
- Frequent (30% to 79% of cases)
- Short columellaHPOHP:0002000
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- Frequent (30% to 79% of cases)
- Thin upper lip vermilionHPOHP:0000219
- Frequent (30% to 79% of cases)
- Anal atresiaHPOHP:0002023
- Occasional (5% to 29% of cases)
- Chronic diarrheaHPOHP:0002028
- Occasional (5% to 29% of cases)