Features that are common:
● Droopy upper eyelids (ptosis), which is the most common feature.
● A ridged or slightly pointed forehead; occasionally the forehead bones join earlier than usual and may need review by a specialist.
● Distinctive facial features, such as arched eyebrows, a well-defined upper lip, and a short, upturned nose.
● Being slower to reach milestones, most often with talking, and sometimes with movement; many children have low muscle tone.
● Features of autism in some children.
Features that are less common:
● Differences in the shape of the ears, and sometimes hearing differences.
● Feeding difficulties as a baby; a small number of children need a feeding tube for a time.
● A heart difference present from birth (in about one in five children).
● A difference in the corpus callosum, the bridge of tissue connecting the two sides of the brain (in about one in four).
● Minor hand differences, short stature, or (rarely) other differences that doctors are still learning about.
Seizures have not been reported in children with this condition. Every child is different, and most features can be supported by the care team.
ZNF462