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Cataract-Dental Syndrome is an extremely rare genetic disorder that may be evident at birth (congenital). It is primarily characterized by abnormalities of the teeth and clouding of the lens of the eyes (congenital Cataracts), resulting in poor vision. Additional eye (ocular) abnormalities are also often present, such as unusual smallness of the front, clear portion of the eye through which light passes (microcornea) and involuntary, rapid, rhythmic eye movements (nystagmus). In some cases, the disorder may also be associated with additional physical abnormalities and/or mental retardation. The range and severity of symptoms may vary greatly from case to case, including among affected members of the same family.
Cataract-Dental Syndrome is inherited as an X-linked recessive trait; therefore, it is usually fully expressed in males only. However, females who carry a single copy of the disease gene (heterozygotes) may manifest some of the symptoms and findings associated with the disorder. These may include microcornea and/or clouding of the lens of the eyes (posterior sutural cataract). Symptoms are usually less severe than those of affected males, potentially causing only slightly decreased clearness or clarity of vision (visual acuity). In some cases, abnormalities of the teeth may also be present.
