Paula and Bobby
Parents of Lillie
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.
What is FDNA Telehealth?
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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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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