distal 10q deletion syndrome

A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.

Signs and symptoms

• Cryptorchidism
• Prominent nose
• Motor delay
• Facial asymmetry
• Delayed speech and language development
• Toe syndactyly
• Limited elbow extension
• Small scrotum
• Hypotonia
• Generalized hypotonia

Also known as: chromosome 10q26 deletion syndrome; distal monosomy 10q; monosomy 10qter; telomeric deletion 10q; terminal chromosome 10q26 deletion syndrome