---
title: Kabuki syndrome
description: "Kabuki syndrome is a genetic disorder with distinctive facial features, developmental delay, and skeletal anomalies. Eye problems are common and varied. ## Ocular manifestations Features may aid early recognition. - Long palpebral fissures with eversion of the lower lateral eyelid…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/kabuki-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Kabuki syndrome

Kabuki syndrome is a genetic disorder with distinctive facial features, developmental delay, and skeletal anomalies. Eye problems are common and varied.

## Ocular manifestations

Features may aid early recognition.

- Long palpebral fissures with eversion of the lower lateral eyelid
- Strabismus, ptosis, and refractive errors
- Occasional coloboma or optic nerve anomalies
- Most cases due to KMT2D or KDM6A variants

## Management

Supportive care focuses on visual and developmental outcomes.

- Regular eye examinations with glasses and amblyopia treatment as needed
- Assessment for hearing loss, cardiac defects, and immune problems
- Early educational and therapy support
- Genetic counselling for families