Campomelic dysplasia

Overview

What is Campomelic Dysplasia?

Campomelic dysplasia is a severe genetic syndrome that is usually present at birth. It includes changes in the skeleton, such as shorter, curved bones. Many children with campomelic dysplasia are born with a split in the roof of their mouth, called a cleft palate. They also have trouble breathing. This is because the trachea (the tube that connects the nose and mouth to the lungs) has a weak wall that tends to collapse and make the trachea close. It may be difficult to tell the gender of a baby with campomelic dysplasia. The genitals may not look distinctly male or female. It is common for males with campomelic dysplasia to have genitals that appear female on the outside. Unfortunately, many babies with campomelic dysplasia pass away shortly after birth.

If someone with campomelic dysplasia lives into childhood, they usually have normal intelligence. Some will have average height. Others will be shorter than other people their age. An s-shaped curve of the spine (called scoliosis) can get worse with age. Hearing loss may be present and hearing aids may be needed.

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