Cole-Carpenter Syndrome 1 (CLCRP1)

Cole-Carpenter Syndrome 1, also known as bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features, is related to cole-carpenter syndrome 2 and carpenter syndrome 1. An important gene associated with Cole-Carpenter Syndrome 1 is P4HB (Prolyl 4-Hydroxylase Subunit Beta). Affiliated tissues include bone and liver, and related phenotypes are scoliosis and osteopenia