Craniofacial and skeletal defects

Overview

A very rare syndrome characterized mainly by skeletal defects and facial and skull anomalies.

Symptoms

• Skeletal defects
• Facial anomalies
• Skull anomalies

Causes

A research team led by a UC Davis Children's Hospital scientist has identified a genetic mutation as the cause of a congenital craniofacial birth defect called cranio-lenticulo-sutural dysplasia. The mutation closes off a pathway that is vital to the transport of cellular proteins and, in doing so, significantly alters normal growth patterns of skeletal and connective tissue