Klein waardenburg syndrome Waardenburg syndrome is a group of conditions characterized by deafness and partial albinism(pale skin, hair, and eye color). BY: Jeffery Rouille
Causes This syndrome is inherited by the autosomal dominant There are 4 types of this syndrome
Types The most common types are type 1 and 2( waardenburg syndrome) Type 3 (Klein waardenburg syndrome) and type 4( waardenburg-shah syndrome) are more rare.
Symptoms Cleft lip (rare) Constipation Deafness Extremely pale blue eyes or eye colors that don't match difficulty with completely straightening joints (contracture) Possible decrease in intellectual function White patch of hair
Tests An audiometry exam tests your ability to hear sounds. Sounds vary based on their loudness (intensity) and the speed of sound wave vibrations (tone). Bowel transit time refers to how long it takes for the food to move from the mouth to the anus. Colon biopsy Genetic testing
Type 1 and Type 2 Type 1 is characterized by displacement of the folds in the eyelid; hearing loss occurs in 20% of those suffering from this first type. Type 2 is more frequent than type 1, type 2 has a higher frequency of deafness
Type 3 Klein-Waardenburg Syndrome, is extremely rare. In addition to the characteristics of type 1, musculoskeletal abnormalities are observed in type 3 as well. Musculoskeletal abnormalities is problems with using muscles in the body
Type 4 Has the same symptoms as the other types but also has intestinal problems. Known as waardenburg shah syndrome.
No treatments are available for this syndrome. Diets and medicine for type 4 intestinal problems Treatment
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