Professionals

Clinical features
The reported phenotype of STT3A-CDG is broad, but most commonly consists of variable skeletal anomalies, short stature, macrocephaly/microcephaly, dysmorphic features, and developmental delay/intellectual disability.

Molecular characteristics
Both autosomal dominant and autosomal recessive forms of STT3A-CDG have been reported. All described patients have so far shown missense mutations.

Prevalence
STT3A-CDG is an extremely rare disease. To date, 24 affected individuals from 11 families have been reported.

Inheritance
In autosomal dominant STT3A-CDG, both inherited and de novo variants have been identified. In autosomal recessive STT3A-CDG, a classical recessive inheritance is reported.

Management
Treatment is symptomatic and multidisciplinary.