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Campomelic Dysplasia

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What is campomelic dysplasia?

Campomelic dysplasia is a severe genetic disorder that affects development of a baby’s airway, lungs, bones and reproductive organs. The condition is a type of osteochondrodysplasia, which causes several types of short stature (dwarfism) involving abnormal bone and cartilage growth.

Problems with bone and cartilage growth affect many body systems, causing serious health conditions. The most serious symptom is difficulty breathing. Babies with campomelic dysplasia have an unusually small chest and ribcage, preventing the lungs from growing as they should. They also have weakened cartilage in their windpipes, which can partially block their airways.

Babies with campomelic dysplasia have a higher risk of stillbirth. Although each baby’s symptoms and lifespan vary, most babies survive less than one year after birth because of the severe breathing problems.

What causes campomelic dysplasia?

Campomelic dysplasia is a genetic condition caused by mutations (changes) in or near the SOX9 gene. This gene affects the way many tissues and organs, such as the skeleton and reproductive system, form during fetal development.

In some cases, these genetic mutations can be inherited. But most of the time, campomelic dysplasia occurs in babies who have no family history of the condition. These cases result from random new gene mutations that happen when the sperm cell and egg cell combine at conception.

Who gets campomelic dysplasia?

Researchers estimate that campomelic dysplasia occurs in up to 16 out of every 100,000 live births.

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