lethal congenital contracture syndrome 6

Lethal congenital contracture syndrome 6 is a rare disorder caused by a mutation in the ZBTB42 gene. This condition belongs to a group of congenital contracture syndromes that are evident from birth and are life‐threatening. The term 'lethal' underscores the severity of the condition, and while details are limited, the condition is understood to be genetically driven. The diagnosis is typically based on the identification of a mutation in the ZBTB42 gene. Given the genetic origin of the syndrome, the condition is categorized based on its molecular cause. Further research may provide more insights into its full clinical spectrum and management.

Information about symptoms is currently limited for this condition.

Lethal congenital contracture syndrome 6 is caused by a mutation in the ZBTB42 gene. This genetic change interferes with normal development, leading to the contractures and other severe effects observed in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.