3C Syndrome - Genetics

Genetics

3C syndrome is an autosomal recessive disease, but the molecular etiology is unknown.

The only way to test for this condition before birth is through ultrasound.

• First-trimester ultrasounds can detected nuchal abnormalities
• Second-trimester ultrasounds can pick up characteristic major structural abnormalities.

Because 3C syndrome is an autosomal recessive disease, A couple who had a first child with 3C syndrome has a 25% risk of a subsequent child having this disease.