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Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 (VCRL2)
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 (VCRL2)
OMIM number: 617661
Comments closing date: 13/08/2025
Vertebral, cardiac, renal, and limb defects
syndrome 2 is a rare inherited (genetic) condition
that affects the development of several body
systems. It is caused when a pregnancy inherits a
mutation (also called a “pathogenic variant”) in
both copies of the KYNU gene. The KYNU gene
helps the body create specific molecules by
processing a protein called tryptophan. If it is not
working, it leads to many downstream effects
which change the way the body develops during
pregnancy. It causes issues such as congenital
heart defects, kidney malformations, and
significant changes to the skeleton, which is how
the condition gets its name. Unfortunately, some
babies with this condition pass away in infancy
due to their congenital malformations. Around half
of individuals who have a longer life expectancy
will have developmental delay. While there is no
cure for the condition, each symptom can be
treated on its merits. Unfortunately, the condition
can significantly affect the quality of life.
Review date: 2 July 2027
