Signs and Symptoms

There are a variety of physical and behavioral disorders that have been linked to 22q11.2 deletion syndrome. The syndrome has the potential to impact every system in the body and can therefore lead to a wide-range of health issues. The majority of 22q11.2 deletion syndrome patients have congenital heart defects, most often conotruncal abnormalities (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect (VSD), vascular ring, and truncus arteriosus) and palatal defects, including submucosal cleft palate and velopharyngeal dysfunction (VPD). VPD (also referred to as velopharyngeal insufficiency, or VPI) is usually manifest as abnormal nasal air escape and hypernasal speech. Some of the other common problems associated with 22q11.2 deletion syndrome include:

Feeding difficulties, including nasal regurgitation of food and fluids, vomiting or “spitting up”, gastroesophageal reflux (GERD)
Hypocalcemia
Gastrointestinal problems, including constipation, and GERD
Immune system disorders, including recurrent ear infections (otitis) and sinusitis, respiratory infections, and autoimmune diseases
Kidney disorders – approximately 35 percent of these patients may have a missing or malformed kidney.
ENT problems, including laryngeal webs and external ear anomalies
Asymmetric crying facies
Cleft lip and palate
Orthopedic issues, such as scoliosis, club feet, cervical spine abnormalities, and extra fingers or toes
Inguinal, umbilical and diaphragmatic hernias
Growth problems, sometimes associated with growth hormone deficiency
Developmental delays, including both language and motor skills delays
Autism
Obsessive-compulsive disorder (OCD)