The following are the most common features of DiGeorge syndrome. However, not every child will have every feature of the syndrome and the severity of the features will vary between children. Features may include:
- palatal abnormalities (such as cleft lip and/or palate)
- feeding difficulties
- conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
- hearing loss or abnormal ear exams
- genitourinary anomalies (absent or malformed kidney)
- hypocalcemia (low blood calcium levels)
- microcephaly (small head)
- mental retardation (usually borderline to mild)
- IQs are generally in the 70 to 90 range
- psychiatric disorders in adults (e.g., schizophrenia, bipolar disorder)
- severe immunologic dysfunction (an immune system which does not work properly due to abnormal T-cells, causing frequent infections)
Facial features of children with DiGeorge syndrome may include the following:
- small ears with squared upper ear
- hooded eyelids
- cleft lip and/or palate
- asymmetric crying facies
- small mouth, chin, and side areas of the nose tip
The symptoms of DiGeorge syndrome may resemble of problems or medical conditions. Always consult your child's physician for a diagnosis.
Velocardiofacial Syndrome OTHER RELATED INFORMATION
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