Cabezas syndrome is a very rare X-linked disorder that mainly affects boys. It is caused by mutations in the CUL4B gene, which plays an important role in brain development. Typical characteristics are mental developmental delay, speech problems, muscle and movement disorders, short stature, tremor and certain physical abnormalities.

There is no cure; treatment focuses on early intervention, physiotherapy, occupational therapy and supportive therapies to improve motor skills, speech and daily living skills.