How is the diagnosis made?

The condition can be diagnosed in the first trimester of pregnancy through an ultrasound scan looking for extra fingers or toes, cardiac defects, abnormalities of the kidneys and under-developed limbs. It has to be distinguished from related disorders such as Jeune Syndrome and the short-rib polydactyly syndromes. This may be possible only after birth. Radiographic features may also help with the diagnosis.

• What are the physical characteristics of Ellis-Van Creveld Dysplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References