What is Sifrim-Hitz-Weiss syndrome?
Sifrim-Hitz-Weiss syndrome is a rare congenital genetic syndrome that presents with intellectual disability, developmental delay, and unique facial features.
This syndrome is also known as:
Sifrim-Hitz-Weiss Multiple Congenital Anomalies-Mental Retardation syndrome
What gene changes cause Sifrim-Hitz-Weiss syndrome?
Changes in the CHD4 gene are responsible for the syndrome.
The condition is not inherited but the result of de novo, or new gene mutations during reproduction.
What are the main symptoms of Sifrim-Hitz-Weiss syndrome?
- Developmental delay and intellectual disability are two main symptoms of the syndrome. Speech delay is also common with the syndrome. However, the severity of these symptoms can vary between affected individuals.
- The syndrome is associated with health complications such as brain and heart defects, though the nature and severity of these issues can differ among individuals.
- A large head is also a common symptom, as are varying unique facial features although these are not always specific to the syndrome.
How is it diagnosed?
To find out if someone has a diagnosis of Sifrim-Hitz-Weiss 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.
