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Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
Pediatrics, medical genetics, orthopedics: Symptoms: Bones that break easily, blue tinge to the sclera (whites of the eye), short height, joint hypermobility, hearing loss [5] Onset: Birth: Duration: Long term: Causes: Genetic (autosomal dominant or de novo mutation) [6] Diagnostic method: Based on symptoms, DNA testing: Prevention: Pre ...
Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.
Life expectancy for type A is approximately 10 to 20 years. These symptoms are seen in CS type 1 children. Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth.
When it comes to eye color, the melanin controlled by the OCA2 gene is diluted and thus we all have blue eyes. For those with that blue-eye gene mutation they eyes stay blue.
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
According to the Williams Syndrome Association, its diagnosis begins with the recognition of physical symptoms and markers, which is followed by a confirmatory genetic test. The physical signs that often indicate a suspected case of WS include puffiness around the eyes, a long philtrum, and a stellate pattern in the iris.
The Russian Blue is a striking breed featuring a short, dense coat of a beautiful blue-gray color and vivid green eyes. Its unique “blue” color is due to a genetic trait that dilutes the black ...