Clinical Characteristics for Families

Patients with Cole-Carpenter syndrome type 2 display bone fragility, craniosynostosis (a baby's skull joins together too early), ocular proptosis (the protrusion of the eye), hydrocephalus (the accumulation of cerebrospinal fluid within the brain), wide open fontanelle (the soft spot on a baby's head), marked frontal bossing, midface hypoplasia (incomplete development), and micrognathia (small lower jaw).