Milder forms of the disease, seen in those who live beyond the neonatal period and those with ACD, may perhaps be attributable to somatic mosaicism—particularly for those with mutations within the SOX9 coding region. Chromosomal aberrations in the upstream control regions or residual activity of the mutant SOX9 protein could also be responsible for the milder forms of the disease. Long-term survivors of CMD are significantly more likely to have translocation and inversion mutations upstream of SOX9 rather than mutations in the SOX9 coding region itself. Diagnosis
In utero sonographic diagnosis is possible when characteristic features such as bilateral bowed femurs and tibia, clubbed feet, prominent curvature of the neck, a bell-shaped chest, pelvic dilation, and/or an undersized jaw are apparent. Radiographic techniques are generally used only postnatally and also rely on prototypical physical characteristics. However, bent bones are an unspecific sign and most fetuses with bent bones will have conditions other than campomelic dysplasia

Screening
Genetic screening can be done by comparative genomic hybridization (CGH) studies using DNA microarrays. and by PCR and sequencing of the entire SOX9 gene. Many different translocation breakpoints and related chromosomal aberrations in patients with CMD have been identified. Prognosis
In more than half of the cases, death occurs in the neonatal period due to respiratory distress, generally related to small chest size or insufficient development of the trachea and other upper airway structures.Among survivors of CMD, the skeletal malformations change over time to include worsening scoliosis or kyphosis resulting in decreased trunk size relative to the limb length.
This method is still under experimental development. Electrodiagnostic testing
Electromyography (EMG) and nerve conduction studies (NCS) are important ancillary tests in CRPS because they are among the most reliable methods of detecting nerve injury. They can be used as one of the primary methods to distinguish between CRPS types I and II, which differ based on evidence of actual nerve damage. EMG and NCS are also among the best tests for ruling in or out alternative diagnoses. CRPS is a "diagnosis of exclusion", which requires that no other diagnosis can explain the patients symptoms. This is very important to emphasise because patients otherwise can be given a wrong diagnosis of CRPS when they actually have a treatable condition that better accounts for their symptoms. An example is severe carpal tunnel syndrome (CTS), which can often present in a very similar way to CRPS. Unlike CRPS, CTS can often be corrected with surgery to alleviate the pain and avoid permanent nerve damage and malformation.Both EMG and NCS involve some measure of discomfort. EMG involves the use of a tiny needle inserted into specific muscles to test the associated muscle and nerve function. Both EMG and NCS involve very mild shocks that in normal patients are comparable to a rubber band snapping on the skin. Although these tests can be very useful in CRPS, thorough informed consent must be obtained prior to the procedure, particularly in patients experiencing severe allodynia. In spite of the utility of the test, these patients may wish to decline the procedure to avoid discomfort.