7q11.23 Duplication Syndrome

Our approach to 7q11.23 duplication syndrome

Children with this uncommon condition often have cardiovascular issues that demand heart surgery. Our multidisciplinary team of heart and artery experts will guide your decisions every step of the way. Since behavioral and developmental challenges can occur with 7q11.23 duplication syndrome, your child will work with Mark Beidelman, PsyD, our neuropsychologist who is an expert in developmental and behavioral pediatrics, and our child and adolescent psychiatrist, Allan Reiss, MD, who is a world-renowned expert in neurogenetic disorders, to help your child succeed in all aspects of life.

About 7q11.23 duplication syndrome

7q11.23 duplication syndrome is a condition caused by an extra copy of an area on the long (q) arm of chromosome 7. Nearly half of all children with 7q11.23 duplication syndrome have an enlarged (dilated) aorta, the artery that carries blood from the heart to the rest of the body. Children with this syndrome tend to have certain facial characteristics, including a large head, a broad forehead, deep-set eyes, long eyelashes, straight eyebrows, and a nose that’s broad at the tip. Signs range from mild to severe.

Signs of 7q11.23 duplication syndrome

  • Heart and artery problems: An enlarged aorta, which can lead to dissection, where the walls of the artery separate, or rupture, demanding surgical repair.  
  • Behavioral challenges: Children with 7q11.23 have been known to experience anxiety disorders, develop social phobias, have attention deficit disorder (ADD), be defiant, and sometimes act aggressively. Behavior can be similar to autism.
  • Intellectual disabilities: Babies and children experience delayed development, especially with speech and motor skills for crawling and walking. They tend to have below-normal intelligence.
  • Weak muscle tone with abnormal movements on one side of the body.
  • Seizures in approximately 20 percent of children.