---
title: "Shprintzen-goldberg syndrome"
description: "Shprintzen-Goldberg syndrome is a connective tissue disorder with craniosynostosis, marfanoid features, and cardiovascular anomalies. Eye findings reflect both skeletal and connective tissue changes. ## Ocular manifestations Vision can be affected in several ways. - Hypertelorism, proptosis, and strabismus - High…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/shprintzen-goldberg-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Shprintzen-goldberg syndrome

Shprintzen-Goldberg syndrome is a connective tissue disorder with craniosynostosis, marfanoid features, and cardiovascular anomalies. Eye findings reflect both skeletal and connective tissue changes.

## Ocular manifestations

Vision can be affected in several ways.

- Hypertelorism, proptosis, and strabismus
- High myopia and risk of lens subluxation or retinal detachment
- Exposure keratopathy if lids do not close fully
- Mutations often in SKI gene within the TGF-beta pathway

## Management

Care focuses on surveillance and prevention of complications.

- Regular eye examinations for refraction, lens stability, and retina
- Cardiac monitoring for aortic root dilation and valve issues
- Craniofacial and orthopaedic care as needed
- Genetic counselling and family screening