What Is 22q11.2 Deletion Syndrome?
22q11.2 deletion syndrome is a common genetic condition often associated with cleft palate. Here is what to know.
22q11.2 deletion syndrome (also called DiGeorge syndrome or velocardiofacial syndrome) is caused by a small missing piece of chromosome 22. It is the most common genetic syndrome associated with cleft palate.
- Key features:
- Cleft palate (especially submucous cleft)
- Heart defects (in about 75% of cases)
- Immune system problems (thymus issues)
- Low calcium levels (hypocalcemia)
- Characteristic facial features
- Learning difficulties (variable)
- Speech and feeding problems
- Hearing loss
- Palate issues:
- Cleft palate is present in about 70% of cases
- Submucous cleft palate is common
- Velopharyngeal insufficiency is very common (even without a visible cleft)
- Hypernasal speech is a frequent symptom
- Diagnosis:
- Genetic test (FISH or microarray)
- Can be detected before or after birth
- Often diagnosed when a child has a cleft palate and other features
- Treatment:
- Cleft palate repair (if needed)
- Heart surgery (if needed)
- Speech therapy
- Immune and calcium management
- Educational support
- Feeding therapy
Long-Term Outlook
Most children with 22q11.2 deletion syndrome lead full lives with appropriate support. Early intervention for speech, learning, and medical issues is essential.
Clinical Guidance
22q11.2 deletion syndrome is a common genetic condition that features cleft palate, heart defects, immune issues, and learning challenges. Children need multidisciplinary care addressing medical and developmental needs.