Sifrim-Hitz-Weiss syndrome

Sifrim-Hitz-Weiss syndrome is a rare condition caused by mutations in the CHD4 gene. People with this condition often face multiple congenital anomalies and dysmorphic features. The syndrome is mainly recognized by developmental delays, including problems with speech, and varying degrees of intellectual disability, generally ranging from mid-to-moderate severity although some may have normal intelligence. The clinical signs can vary widely among individuals. Most people with the condition may show distinct facial features, sometimes including a larger head size (macrocephaly), as well as congenital heart defects, low muscle tone (hypotonia), and eye problems. Some individuals can also experience additional issues such as anomalies in brain structure, skeletal differences, hearing challenges, and underdeveloped sexual characteristics in males (hypogonadism).

Common symptoms and signs in people with Sifrim-Hitz-Weiss syndrome include developmental and speech delays, a range of intellectual disability, unusual facial features, and sometimes a larger head size. Other reported signs may include congenital heart defects, low muscle tone, eye abnormalities, brain structure anomalies, skeletal differences, hearing loss, and in males, features of hypogonadism.

This condition is caused by mutations in the CHD4 gene. The CHD4 gene plays an important role in normal development, and mutations can lead to the various physical and developmental issues seen in Sifrim-Hitz-Weiss syndrome.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.