Paula and Bobby
Parents of Lillie
Tetrasomy 18p syndrome
What is Tetrasomy 18p syndrome?
It is a rare chromosomal syndrome that affects multiple parts of the body. The main symptoms of the syndrome are usually very obvious in infancy and included difficulties with feeding, delayed development and intellectual disability. However these can vary according to the individual.
As a rare syndrome it is known to affect around 250 families worldwide.
What gene changes cause Tetrasomy 18p syndrome?
The syndrome is caused because of the presence of an extra isochromosome 18p in each cell. This creates extra genetic material disrupts development within an affected individual and triggers the related syndromes.
Generally the syndrome is not inherited, except in very rare cases. It is the result of spontaneous mutations during the process of reproduction.
What are the main symptoms of Tetrasomy 18p syndrome?
The main syndromes affecting infants with the syndrome include difficulties with feeding, frequent vomiting and a subsequent failure to gain sufficient weight. Symptoms in infancy might also include respiratory issues which affect breathing and jaundice.
Delayed development of motor skills (sitting, crawling and walking) is common with the syndrome. This can be caused by weak muscle tone, increased muscle tone or a stiffness known as spasticity.
Some affected individuals might also show symptoms that include ADHA, anxiety and other behavioural issues.
Unique facial features associated with the syndrome include low set ears, a small mouth, a flat philtrum (the area between the upper lip and nose), a thin upper lip and a high arched palate. A cleft palate may also be present.
Seizures, constipation, an abnormal curving of the spine are also possible symptoms.
How does someone get tested for Tetrasomy 18p syndrome?
The initial testing for Thanatophoric 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.
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.
Benefits of FDNA Telehealth
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.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.