Signs and symptoms[ edit ] Facial appearance of a boy from China with Waardenburg syndrome type 1 Waardenburg syndrome has multiple different types with some variations in symptoms, and symptoms can vary among those with the same type. The two features consistent across all types of Waardenburg syndrome are some degree of congenital sensorineural hearing loss and some degree of pigmentation deficiencies, most consistently in the eyes. Other facial features associated with type 1 can include a high nasal bridge, a flat nose tip, a unibrow synophrys , smaller edges of the nostrils alae or a smooth philtrum. Sensorineural hearing loss tends to be more common and more severe in this type. These can include developmental delay, early childhood nystagmus , increased muscle tone , white matter anomalies or hypomyelination in the brain, autistic -like behaviour and the underdevelopment or complete absence of many inner-ear structures such as the vestibular system or cochlea. Lack of a sense of smell anosmia due to a missing olfactory bulb in the brain may also be present.
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Description Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring pigmentation of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth congenital. People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye.
Sometimes one eye has segments of two different colors. Distinctive hair coloring such as a patch of white hair or hair that prematurely turns gray is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I.
Type III sometimes called Klein-Waardenburg syndrome includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. Type IV also known as Waardenburg-Shah syndrome has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease , an intestinal disorder that causes severe constipation or blockage of the intestine.
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