clinical features
Last reviewed 01/2018
Clinical features include:
- fine and fair hair
- joint enlargement and skeletal abnormalities similar to those seen in Marfan's syndrome
- ocular complications:
- lens dislocation, classically downward
- myopia
- a malar flush
- livedo reticularis
- an association with thromboembolic episodes
- osteoporosis
- kyphoscoliosis
- mental retardation - variable - this may be preventable by early diagnosis and dietary treatment
Patients often present with myopia and lens dislocation.
mental retardation (term that has been replaced by intellectual developmental disorder)