chromosome 16p12.2-p11.2 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.

Signs and symptoms

• Intellectual disability
• Feeding difficulties
• Global developmental delay
• Gastroesophageal reflux
• Recurrent otitis media
• Anteverted nares
• Hypotonia
• Flat face
• Single transverse palmar crease
• Posteriorly rotated ears

Also known as: 16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2 microdeletion syndrome