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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Are there other names for Campomelic Dysplasia?

How common is campomelic dysplasia?

What is the usual abbreviation for Campomelic Dysplasia?

Are there other names for Campomelic Dysplasia?

Campomelic dysplasia is also called the following:

  • campomelic dwarfism
  • campomelic syndrome
  • campomelic syndrome, long-limb type
  • camptomelic dwarfism
  • camptomelic dysplasia
  • camptomelic syndrome
  • camptomelic syndrome, long-limb type
  • acampomelic campomelic "dysplasia"
  • CMDI
  • dwarfism, campomelic
  • SRY-Box 9, SOX9 mutations syndrome
How common is campomelic dysplasia?

Roughly one hundred cases of campomelic dysplasia have been reported. It is unknown exactly how often campomelic dysplasia happens. One estimate is that campomelic dysplasia happens in 1 in 40,000 to 1 in 200,000 people.

What is the usual abbreviation for Campomelic Dysplasia?

Campomelic dysplasia can be abbreviated CD, CMD, or CMD1.

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