Noonan syndrome 4

A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.

Signs and symptoms

• Epicanthus
• Sparse eyebrow
• Reduced factor XI activity
• Hypertelorism
• Blue irides
• Wide intermamillary distance
• Bilateral ptosis
• Posteriorly rotated ears
• Prolonged partial thromboplastin time
• Reduced factor VIII activity

Also known as: NS4