Campomelic Dysplasia

What is Campomelic Dysplasia?

This rare disease is a genetic syndrome that presents with severe symptoms, especially in the newborn period.

The majority of individuals do not survive infancy due to the severity of congenital features that cause respiratory insufficiency.

Most symptoms of the condition can be diagnosed before birth through an ultrasound.

What gene changes cause Campomelic Dysplasia?

Mutations to the SOX9 gene are responsible for the syndrome. The condition is inherited in an autosomal dominant pattern but the majority of diagnosed cases are the result of a de novo mutation.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Campomelic Dysplasia?

One of the most severe symptoms associated with the syndrome is laryngotracheomalacia which is the weakening of the cartilage in the upper respiratory tract. This has a serious effect on the breathing of a newborn with the syndrome and impacts on the survival rate.

One of the main features of this syndrome is the bowing of the long bones in the legs and sometimes the arms too. Short legs and dislocated hips are also common. Most individuals are born with 11 pairs of ribs not 12.

Club feet and abnormalities in the development of the bones in the neck are also features.

Unique facial features of the syndrome include a small chin, prominent eyes, a flat face and large head.

Many individuals also present with what is known as the Pierre Robin sequence of symptoms: a cleft palate, a tongue positioned further back in the mouth, and a small lower jaw.

Individuals with the syndrome are also born with ambiguous external genitalia.

How does someone get tested for Campomelic Dysplasia?

The initial testing for Campomelic Dysplasia syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."


Paula and Bobby
Parents of Lillie

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