Smith-Magenis syndrome

A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cog

A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.

Signs and symptoms

• Square face
• Strabismus
• Hypotonia
• Mild global developmental delay
• Intellectual disability
• Global developmental delay
• Midface retrusion
• Truncal obesity
• Malar flattening
• Self-mutilation

Also known as: 17p11.2 microdeletion syndrome; chromosome 17p11.2 deletion syndrome