chromosome 17q11.2 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.

Signs and symptoms

• Axillary freckling
• Cognitive impairment
• Cafe-au-lait spot
• Lisch nodules
• Hypertelorism
• Neurofibroma
• Subcutaneous neurofibroma
• Plexiform neurofibroma
• Short attention span
• Joint hypermobility

Also known as: 17q11 microdeletion syndrome; NF1 microdeletion syndrome; Van Asperen syndrome; neurofibromatosis type 1 microdeletion syndrome