What is the diagnosis of Achondroplasia?

With the help of prenatal ultrasound, this can be detected even before the birth. DNA test is also helpful in this regard. It is helpful to detect the homozygosity in which two copies are inherited. These inherited copied are of the mutant genes due to which it becomes a lethal condition and may lead to the still births.

The diagnosis of this disorder is also established by the use of skeletal survey. Large skull with narrow foramen magnum, narrow spinal canal, small skull base, short and flat vertebral bodies with a large intervertebral disc, overgrowth of fibula, short and broad hands are some of the deformities which are found.

The fetal ultrasound helps in the diagnosis of the condition which occurs due to the deattachment between the femur length and biparietal diameter. In the case where the fingers are fully extended they give rise to trident hand configuration.