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.