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omphalocele syndrome, Shprintzen-Goldberg type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

omphalocele syndrome, Shprintzen-Goldberg type

MONDO:0008425

Also known as:Shprintzen omphalocele syndromeShprintzen-Goldberg omphalocele syndromelaryngeal and pharyngeal hypoplasia with omphalocele

Overview

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.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Laryngeal hypoplasia, Low muscle tone (hypotonia), Abnormally high-pitched voice, and Sideways curvature of the spine (scoliosis) and others; and common findings: Short columella, Omphalocele, Neonatal respiratory distress, and Thin upper lip vermilion and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Excessive inward curve of the lower back (lumbar hyperlordosis), Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis)

Prognosis

Phenotype severity distribution: 9 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for omphalocele syndrome, Shprintzen-Goldberg type.

1 publication has been identified in PubMed for omphalocele syndrome, Shprintzen-Goldberg type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Formstone C (2025). [PMID: 39319771](https://pubmed.ncbi.nlm.nih.gov/39319771/). *Dev Dyn*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182210

Orphanet

European rare disease database

Orphanet:3164

GARD

Genetic and Rare Diseases Info Center

GARD:9850

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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omphalocele syndrome, Shprintzen-Goldberg type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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