[1][2] The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs.

The diagnosis of amelia syndrome is established clinically and can be made on routine prenatal ultrasonography.

Molecular genetic testing on a clinical basis can be used to diagnose the incidence of the syndrome.

The mutation detection frequency is unknown as only a limited number of families have been studied.

[3] Amelia may be present as an isolated defect, but it is often associated with major malformations in other organ systems.