22q11.2 Deletion Syndrome (DiGeorge Syndrome)

Source review

Source review underway

Citations and claims are being checked. Treat this page as a draft.

How source review works

On this page

22q11.2 deletion syndrome (22q11.2DS) is the current umbrella name for the chromosome deletion historically described through labels such as DiGeorge syndrome and velocardiofacial syndrome. Those older names describe overlapping clinical patterns, not separate predictable courses. A DiGeorge-like pattern can also have another genetic cause, so the molecular result should be documented. The American Academy of Pediatrics health-supervision report and international pediatric recommendations provide current care guidance.

Seek urgent assessment for breathing difficulty, blue or gray color, stridor, repeated choking, a first or prolonged seizure, fainting, severe muscle spasm, sudden confusion, or a marked change in alertness. These signs can reflect cardiac or airway disease, aspiration, infection, low calcium, medication effects, or another emergency.

Immune function varies from typical to profound T-cell deficiency. Fever or significant infection should be managed according to the individual's immunology plan. Immune status should be assessed before live vaccines, and transfusion requirements should be clarified when immune status is significantly abnormal or not yet established.

Illness, surgery, fasting, pregnancy, and other physiologic stress can reveal or worsen hypocalcemia. Procedure planning should include the person's cardiac, airway, palate, immune, calcium, cervical-spine, feeding, and communication history; perioperative calcium monitoring may be indicated. Adenoid or pharyngeal procedures need cleft or craniofacial review because they can change velopharyngeal function and speech.

Quick reference

Topic Condition-specific guidance
Name 22q11.2 deletion syndrome; DiGeorge and velocardiofacial syndrome are historical phenotype labels
Diagnosis Detection of a deletion at chromosome region 22q11.2, usually by chromosomal microarray
Variability Heart, palate, airway, immune, endocrine, hearing, renal, developmental, and mental-health findings vary, including within families
Speech Hypernasality or articulation differences may reflect velopharyngeal or palatal anatomy and need specialist assessment
Swallowing Dysphagia, reflux, airway differences, and aspiration may occur independently of speech findings
AAC Based on communication need and individual sensory, motor, language, and cognitive access

Recognition and diagnosis

Possible presentations include conotruncal or aortic-arch heart disease, palatal or velopharyngeal differences, feeding or airway difficulty, low calcium, immune differences, hearing loss, renal anomalies, characteristic but variable facial features, developmental or learning differences, and later psychiatric symptoms. Some people have few congenital findings and are diagnosed in later childhood or adulthood.

Chromosomal microarray is generally the diagnostic test because routine chromosome analysis can miss the deletion. Once a familial deletion is known, targeted testing may be used for relatives. A genetics professional can interpret the deletion coordinates, distinguish typical from nested or distal deletions, arrange parental testing, and provide individualized recurrence counseling. See GeneReviews: 22q11.2 Deletion Syndrome.

Coordinated health care

Evaluation and surveillance are guided by age and findings. Relevant review may include cardiology, immunology, calcium and thyroid function, palate and airway, feeding and growth, hearing and vision, renal and spinal findings, development, dental care, sleep, and mental health. The current AAP report provides a health-supervision framework, while dedicated immunology guidelines address thymic-development disorders.

Learning, attention, anxiety, autism-related traits, mood symptoms, and psychosis risk are group-level associations, not predictions for an individual. Changes in function, sleep, behavior, perception, or safety deserve timely assessment, including review of medical and communication contributors. Support should preserve autonomy and use accessible explanations in health and mental-health care.

Speech, resonance, and language

Speech may be affected by velopharyngeal dysfunction, submucous or overt cleft palate, dental or hearing differences, motor-speech needs, language, or learning. Hypernasality, nasal air escape, weak pressure consonants, and compensatory articulation require assessment by an experienced speech-language pathologist working with a cleft or craniofacial team. Structural velopharyngeal dysfunction is not corrected by articulation exercise alone.

Assessment should cover hearing, palate structure and movement, resonance, articulation, language, literacy, cognition, and participation. Communication access should be available during medical visits, especially when the person needs to report pain, symptoms, consent, or medication effects. Condition-specific speech and multidisciplinary care frameworks are summarized in GeneReviews and the updated pediatric clinical practice recommendations (Óskarsdóttir et al., Genetics in Medicine, 2023).

Feeding and swallowing

Feeding concerns may involve sucking, chewing, swallowing, reflux, constipation, palate or airway anatomy, vascular compression, cardiac endurance, or sensory factors. Coughing, choking, wet or changed voice, nasal regurgitation, congestion with meals, recurrent chest illness, long meals, poor intake, or growth concerns warrant assessment.

Clinical and, when indicated, instrumental swallowing evaluation should guide decisions about positioning, pacing, texture, utensils, medication form, and nutrition. Speech resonance does not establish swallowing safety, and a syndrome diagnosis does not determine a safe diet.

AAC and access planning

AAC may supplement speech while palate treatment is underway, reduce communication breakdown, or provide a longer-term communication route. It should be considered from functional need without waiting for speech failure or requiring developmental prerequisites. Preserve speech, gesture, sign, writing, visual supports, and partner strategies as useful parts of a multimodal system.

Feature matching should assess receptive and expressive language, literacy, hearing, vision, motor control, attention, fatigue, anxiety, environments, and preferences. Symbol, text, sign, touch, switch, or other access choices require trials; the diagnosis does not select the system. Include health, self-advocacy, consent, emotional, social, school or work, and emergency vocabulary, plus partner training and a low-tech backup. See the AAC assessment and acquisition guide and ASHA AAC Practice Portal.

Prognosis and transition

There is no single functional or medical course. Congenital findings, immune and endocrine function, development, mental health, social context, and access to care differ substantially. Transition planning should transfer the molecular report, cardiac and immune history, calcium plan, palate and airway history, current medicines, communication supports, and the person's goals to adult services.

Key sources