Conditions related to Chromosome 22q

  • Conotruncal anomaly face syndrome
  • Distal Chromosome 22q11.2 deletion syndrome
  • Phelan-McDermid syndrome -22q13.3 deletion

Attention Deficit and Learning Disorders (ADHD)

Attention deficit disorder with or without hyperactivity (ADHD) is the most common behavioral disorder of childhood, affecting 3 to 7 percent of school-age children. Learn more

Autism

Autism refers to a group of neurodevelopmental disorders that makes it difficult for a child to interact socially, communicate verbally and non-verbally and connect with people. Learn more

Chromosome 22q11.2 Deletion

Chromosome 22q11.2 deletion is a disorder that occurs when a small part of chromosome 22 is missing at birth. It leads to a wide variety of complications in children born with the disorder. Learn more

Cleft Lip and/or Palate

A cleft lip and/or palate is characterized by the presence of a gap (split) in the lip and/or palate seen at birth when the tissues of the lip and/or palate don't come together at all, or come together only part of the way. Learn more

Congenital Heart Defects/Disease

Any unusual physical feature or health problem that is present at the birth of a baby is known as a birth defect or a congenital anomaly. Learn more

Developmental Delays

Whenever a child fails to reach a set of developmental milestone for physical/motor, in language and communication, social, or behavioral function, and/or cognitive ability at their expected time, it's known as developmental delay. Learn more

DiGeorge Syndrome

Please see 22q11.2 Deletion for further information.

Disruptive Behavior Disorders

Disruptive behavior disorders (DBD) are common behavioral and mental health disorders easily identified in children because they involve behaviors that are readily seen. Learn more

Velo-Cardio-Facial Syndrome

Velo-cardio facial syndrome has a number of common features including a cleft palate, heart abnormalities, and a characteristic looking face, and many others. Learn more