This disorder was first recognized in the middle of the 20th century and since then several different types have been described.
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.
This is an autosomal recessive disorder which requires two mutations, one from each parent, to cause the disease. Since parents have one copy of the normal gene, they are usually normal.
The diagnosis can be made at birth based on the presence of cataracts and the cartilage changes. The prognosis is not good as many babies do not survive beyond infancy and few live beyond 10 years. However, milder types have been reported and therefore prognosis is often uncertain. No treatment is available.