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dyssegmental dysplasia-glaucoma syndrome

MeSH: C563290ORPHA: 1804

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C563290

Orphanet Code

ORPHA:1804
dyssegmental dysplasia-glaucoma syndrome
MeSHC563290
OrphanetORPHA:1804
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO