Facial Characteristics
The facial characteristics noted are often very subtle and sometimes
only apparent when a group of children are together. For example, small
low set ears are noted but if your family has large ears then they may
just be small for your family. Also your child may have many of the features,
just a few or none at all.
Many of these features are not 'abnormal', they are seen in people who
do not have the 22q11.2 deletion, it is just that they are seen more frequently
and together in people who do have the deletion.
The features include:
Facial asymmetry
Other Features:
Hands are noted as being fine with long tapering fingers (like a pianist!)
and sometimes a short end joint with small fingernails. Sometimes the
upper arm can be short, and generally the children tend to have a short
and fine stature, with around 50% being below the 10th centile line
on the growth charts and, some require growth hormone treatment. A posture
type is noted where it appears that the child has their shoulders hunched
up, and have a slight 'flip-flap' walk. Abundant scalp hair at birth
is also noted and small genitals.
Babies are frequently noted as being 'pretty' because of their small,
fine features and they also often have a quiet, gentle cry

