Spondyloepimetaphyseal dysplasia, Camera-Genevieve type

What is Spondyloepimetaphyseal dysplasia, Camera-Genevieve type?

It is a rare syndrome that presents with bone dysplasia and severe developmental delay.

What gene changes cause Spondyloepimetaphyseal dysplasia, Camera-Genevieve type?

Mutations in the NANS gene are responsible for the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

What are the main symptoms of Spondyloepimetaphyseal dysplasia, Camera-Genevieve type?

The main symptoms of this rare syndrome include severe developmental delay and a number of symptoms associated with skeletal dysplasia. These symptoms include a short statue, premature bone ossification and a number of other related medical issues.

Unique facial features include facial dysmorphism, a prominent forehead, a depressed nasal bridge, a prominent nasal tip and full lips. Platyspondyly (abnormal vertebrae) and abnormal epiphyseal and metaphyseal (observed in the extremes of the long bones) ossification stand for the spondyloepimetaphyseal in the name.

How does someone get tested for Spondyloepimetaphyseal dysplasia, Camera-Genevieve type?

The initial testing for Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 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.

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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

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