Paula and Bobby
Parents of Lillie
What is Borjeson-Forssman-Like syndrome?
Borjeson-Forssman-Like syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Under the title 'Borgeson-Forssman-Lehmann sydrome', Petridou et al., (1997), reported 2 affected sisters, with some features of that condition. It is likely that their mother and maternal grandfather were affected, plus a possibility of male to male transmission, making X-linkage as in Borjeson-Forssman (BFL) unlikely. Although said to be severely handicapped both sisters had IQs in the 60,s and they were facially identical with the following features: prominent upper and lower lips, small jaws, round faces, narrow palpebral fissures and deeply set eyes, partial alopecia and large ears. Unlike BFL they had big heads. Both had seizures and brisk reflexes. Both were short and fat (the hands were not shown and Albright syndrome could not be excluded).
* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]
What gene changes cause Borjeson-Forssman-Like syndrome?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - 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.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Borjeson-Forssman-Like syndrome?
The typical symptoms of the syndrome are:
How does someone get tested for Borjeson-Forssman-Like syndrome?
The initial testing for Borjeson-Forssman-Like syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.