What is Weiss-Kruszka syndrome?
It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome.
What gene changes cause Weiss-Kruszka syndrome?
The gene responsible for the disorder is the ZNF462 gene.
What are the main symptoms of Weiss-Kruszka syndrome?
The main emerging symptoms of the syndrome include developmental delay, and in some cases, individuals also receive a diagnosis of autism spectrum disorder.
The syndrome is characterized by distinct facial traits, such as drooping eyelids (ptosis), downward-slanting eyes, a broad philtrum (the area between the upper lip and nose), and naturally arched eyebrows.
Feeding issues and difficulties are common with the syndrome.
How is it diagnosed?
To find out if someone has a diagnosis of Weiss-Kruszka syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
