Paula and Bobby
Parents of Lillie
Van Den Ende-Gupta syndrome
What is Van Den Ende-Gupta syndrome?
It is a rare genetic syndrome, present at birth, and associated with unique facial features and skeletal anomalies. There have been 40 cases of the syndrome reported worldwide so far. Little is still known about how the condition progresses in affected individuals with age.
What gene changes cause Van Den Ende-Gupta syndrome?
The syndrome is caused when the SCARF2 gene does not work properly.
It is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Van Den Ende-Gupta syndrome?
The main symptoms of the syndrome affected the facial features of individuals affected. These might include but are not limited to underdeveloped eyelids, underdeveloped jaw bones, an unusually shaped nose, long fingers, bent joints (contractures) and the presence of underdeveloped bones in the feet, shoulders and ribs. Other features include underdeveloped eyebrows, a narrow opening between the eyelids, depressed bridge of the mouth and a drooping lower lip.
A hardening of the skin and connective tissue has also been associated with this syndrome.
How does someone get tested for Van Den Ende-Gupta syndrome?
The initial testing for Van Den Ende-Gupta 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.
What is FDNA Telehealth?
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