baby with cleft lip and palate

Chromosome 22q Clinic

The Chromosome 22 Q Clinic at Nicklaus Children’s Hospital is Florida’s  specialty multidisciplinary service dedicated to the care and support of children born with chromosome 22Q deletion. This hereditary condition affects one of every 2,000- 4,000 newborns and is present in 5 to 8 percent of children born with a cleft palate.

Also known as 22q11.2 deletion syndrome, DiGeorge syndrome and velo-cardio-facial syndrome, 22Q disorder results when a small segment of the 22nd chromosome is missing. This small chromosomal deletion can affect virtually every body system and is the second most common genetic disorder, with Down syndrome being the most prevalent.

The deletion of 22Q is associated with a wide array of symptoms which include delays in growth, congenital heart disease, breathing concerns, cleft and craniofacial issues, immune deficiencies, kidney problems and anomalies of the skeletal system. It also may result in developmental delays and cognitive delays as well as attention deficit hyperactivity disorder (ADHD), autism and anxiety disorders.

Conditions related to chromosome 22q

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

Treatments and Procedures

While there is no cure for 22Q deletion, a number of treatments are available to support the care of children with diverse needs.

A Multidisciplinary Team Approach to Care

With so many body systems potentially affected by chromosome 22Q deletion, affected families benefit from a team approach to care that brings together a full array of specialists in a single clinic visit to consult collaboratively in the child’s care and management. The team evaluates each child and works together to develop an optimal care planned to address each child’s individual needs.

The team includes specialists in: