Table 2.

Select Features of PACS1 Neurodevelopmental Disorder

FeatureProportion of Persons w/FeatureComment
DD/ID 35/35
  • Moderate impairment in most
  • Language skills more severely affected than motor skills
Feeding/
GI issues 		20-22/35Gastroesophageal reflux & constipation are most common manifestations.
Seizures 20/35
  • Partial & tonic seizures
  • Infantile seizures reported
Characteristic
behavioral
features 		18/35Autism spectrum disorder present in ~25%-30%
Dysmorphic
facial features 		35/35Hypertelorism, downslanting palpebral fissures, bulbous nasal tip, low-set & simple ears, smooth philtrum, wide mouth w/downturned corners, thin upper vermilion (w/a "wavy" profile), wide-spaced teeth
Congenital heart anomalies 15/35Atrial septal defects &/or ventricular septal defects in ~40%
Brain MRI
findings 		13/20Hypoplasia or partial agenesis of the cerebellar vermis is most common finding
Ocular
anomalies 		11/35Coloboma of the iris, retina, &/or optic nerve, myopia, strabismus, nystagmus

DD = developmental delay; GI = gastrointestinal; ID = intellectual disability

From: PACS1 Neurodevelopmental Disorder

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