Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (also known as KFS4) is a rare condition that appears to affect the development of the bones in the neck, muscles, and facial features. The name of the syndrome highlights its main features: abnormalities in the vertebrae (Klippel-Feil anomaly), muscle issues (myopathy), and distinct facial characteristics (facial dysmorphism). Detailed information about how these features present is limited at this time.

The syndrome is noted for a combination of signs including abnormal vertebral development, muscular weakness or unusual muscle appearance, and differences in facial features. However, detailed descriptions of how these symptoms present in people with the condition are currently limited.

The condition is linked to changes in the MYO18B gene. This gene is known to have roles in muscle function. The syndrome is described as autosomal recessive, meaning that it likely requires two copies of the altered gene for the condition to occur. More detailed causes and risk factors for this disorder remain limited.

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

Information about the outlook and quality of life for people with this condition is currently limited.

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