Conditions / Syndrome
DiGeorge syndrome
info · Syndrome · ICD-10: D82.1
A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
Signs and symptoms
- Intellectual disability
- Short palpebral fissure
- Interrupted aortic arch
- Parathyroid agenesis
- Specific learning disability
- Hypertelorism
- Accommodative esotropia
- Patent ductus arteriosus
- Truncus arteriosus
- Cleft palate
Also known as: 22q11.2 deletion syndrome; DiGeorge sequence; DiGeorge's syndrome; Pharyngeal pouch syndrome