Clinical Characteristics

What characteristics do patients with a change in the PACS1 gene have in common?

Children with PACS1-related syndrome manifest a psychomotor development delay (a child’s delay in the acquisition of abilities such as walking or speaking), later resulting in intellectual disability (characterized by significant limitations in both intellectual functioning and in adaptive behavior).

Although many times subtle, children may have recognizable facial characteristics that are commonly seen in other children with a change in the PACS1 gene. These facial signs include a high forehead, wide and arched eyebrows, widely spaced eyes with long eye lashes, prominent and low positioned ears, a protuberant tip of the nose and a wide mouth with a thin upper lip.


What other health implications may be associated with a PACS1 gene change?

Children may have anomalies, most commonly in the brain, heart, eye, kidney and genitalia (in males), which may be detected at birth or during childhood.

Behavioral problems are also frequent, in particular temper tantrums and autism spectrum disorder.

Oral aversion is often noticed when solid food is introduced in the diet, i.e. children manifest a strong preference for soft food or certain specific textures.

Some children develop epilepsy, which is usually well controlled with antiepileptic drugs. Nevertheless, some children have ESES, which is more difficult to control.

Less frequently, children may have a constipation, gastroesophageal reflux and/or a growth delay (failure to thrive, short stature, microcephaly).


What may a PACS1 gene change mean for the future of my child?

Most children start walking independently between 2 and 3 years old and acquire speech later than two years old. Occasionally, children do not develop speech at all.

The degree of intellectual disability may range from mild to moderate and this may interfere with the capacity of a child to become fully autonomous as adult.