chromosome 3q13.31 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.

Signs and symptoms

• Short philtrum
• Global developmental delay
• Delayed speech and language development
• Hypotonia
• Broad forehead
• High palate
• Epicanthus
• Downslanted palpebral fissures
• Myopia
• Cryptorchidism

Also known as: 3q13 microdeletion syndrome; monosomy 3q13