CHARGE Syndrome


Patients have coloboma of the iris or retina and simple malformed ears (small ears, cup-shaped, lop ears).  Facial nerve palsy may lead to facial asymmetry.  Micrognathia and microcephaly may also be present.  Patients may have a spectrum of T-cell immune deficiency that may range from mild T-cell lymphopenia to an almost complete absence of T-cells resulting in a severe combined immune deficiency phenotype.

CHARGE Syndrome