Families

Weiss-Kruszka syndrome is a rare condition caused by a change (a variant) in a gene called ZNF462. Genes are the instructions our bodies use to grow and develop, and this gene is especially important for how the brain and face form before birth. In most children, only one of their two copies of the gene is affected, and in most cases the change is new in the child (it did not come from a parent).

Children with the condition often share some similar features: droopy upper eyelids, a slightly pointed or ridged forehead, and other subtle facial differences. Many children are a little slower to reach milestones such as talking and walking, and some have features of autism. Babies may have low muscle tone (they can feel floppy) and difficulty feeding early on.

The condition varies a great deal from person to person. Two people with the same gene change, even in the same family, can be affected quite differently, some only mildly. Not everyone has every feature. There is no cure, but many of the features can be helped with the right support and therapies, and children are cared for by a team of specialists.