This is a disorder of bone growth with numerous other features.  The bones in the arms and legs are short and the vertebrae are deformed as well.  Cataracts are usually present at birth and growth delay is often severe.  Some mental deficit is almost always present and retardation may be severe.  Many individuals do not achieve normal developmental milestones such as sitting, walking, eating by themselves, or speaking.  Seizures often occur.  In a few patients the skin is dry and scaly.