Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM)

Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM)

OMIM number: 617602

Comments closing date: 14/04/2025

Congenital Heart Defects and Skeletal
Malformations Syndrome (CHDSKM) is a rare
hereditary (genetic) condition which primarily
causes heart abnormalities, bone abnormalities
and growth problems. It is caused by a mutation
(also called “pathogenic variant”) in a gene called
ABL1. The ABL1 gene is thought to have several
important roles in cells throughout the body,
including cell division, maturation and movement.
Individuals with CHDSKM are typically born with
distinctive facial features, heart abnormalities,
including structural problems with the heart’s
chambers or valves, and bone abnormalities,
including curvature of the spine, sunken chest and
joint hypermobility. Babies and young children
often experience ‘failure to thrive’, which means
difficulty gaining weight and growing as expected.
In adulthood, the condition can also cause
weakening of the blood vessel leaving the heart.
Other symptoms can include delayed
development, digestive problems, hearing
problems, eye abnormalities and male genital
abnormalities. People born with this condition can
have variable features, but all of them would be
expected to be significantly impacted by the
condition. The heart and blood vessel problems
can be life threatening, and the bone abnormalities
can cause physical disability. There is no cure for
this condition—each symptom is treated on its
merits.

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