ZMAND (ZNF668-related brain malformation, microcephaly, abnormal growth, neurodevelopmental delay, and dysmorphism) is a very rare genetic condition, that affects growth, brain development, and several body systems. Children with this condition often have small head (microcephaly) from birth or early infancy and show delays in reaching developmental milestones, such as sitting, walking, or talking. Growth may be slower than expected, and some children have feeding difficulties or do not gain weight well.
Many children have differences in brain structure, which may contribute to developmental delay, low muscle tone, or seizures in some cases. Some children also have distinctive facial features, such as large or low-set ears, deep-set eyes, or differences in the shape of the mouth or palate. Other features can include reduced body fat, thumb or toe differences, or, less commonly, liver enlargement.
This condition is very rare, with only three affected individuals described so far.
How is it inherited?
The condition follows an autosomal recessive pattern. This means:
• A child is affected only when they inherit two non-working copies of the gene (one from each parent).
• Parents are usually healthy carriers and do not show symptoms.
• For each pregnancy, parents have a 25% chance of having another affected child.
Families may benefit from genetic counselling to understand inheritance and future reproductive options.
ZNF668