CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
Oculodentodigital syndrome: A rare genetic disorder characterized by small eyes, underdeveloped tooth enamel and permanent flexion of one or more finger joints.
Osteoporosis-pseudoglioma syndrome: A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).
Rubella: A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal death.
Seemanova-Lesny syndrome: A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.
Small eye: Small eye is a condition in which an eye is unusually small.