Chitty Hall Webb syndrome
Overview
A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass.
Symptoms
* Reduced bone mass * Weak bones * Fractures * Bowed shin bone * Abnormal forearm (radius) bone
Causes
* 1q deletion * 2-Hydroxyglutaricaciduria * Apert syndrome - flat face * Arthrogryposis, distal, type 2A * Blepharophimosis telecanthus microstomia