Autosomal recessive disorders

Autosomal recessive disorders are commonly severe, and
many of the recognised inborn errors of metabolism follow this
type of inheritance. Many complex malformation syndromes
are also due to autosomal recessive gene mutations and their
recognition is important in the first affected child in the family
because of the high recurrence risk. Prenatal diagnosis for
recessive disorders may be possible by performing biochemical
assays, DNA analysis, or looking for structural abnormalities in
the fetus by ultrasound scanning.