Parents

What is STT3A-CDG?
STT3A-CDG is a genetic disorder caused by a change in the STT3A gene.

A genetic change (known as a mutation, or pathogenic variant) in the STT3A gene causes variable skeletal anomalies, short stature, and dysmorphic features; about half of affected individuals have intellectual disability. Additional features include increased muscle tone and muscle cramps. However, not all individuals with a mutation in the STT3A gene have these features and the phenotype appears to be quite variable.

How many people are affected by STT3A-CDG?
STT3A-CDG is a rare disease. To date, 24 affected individuals from 12 families have been reported. However, the dominant form of STT3A-CDG was only recently recognized to cause disease (in 2021). It is therefore likely that additional affected individuals will be identified in the near future. Of course, we are still learning more about the condition.