Klein-Waardenburg Syndrome

Klein-Waardenburg Syndrome

All of the tissues affected in Klein-Waardenburg syndrome are derived from embryonic tissue in which PAX-3 is expressed. Symptoms include:

• Dystopia canthorum (lateral displacement of the inner corner of the eye)
• Pigmentary abnormalities (frontal white blaze of hair, patchy hypopigmentation of the skin, heterochromia irides)
• Congenital deafness
• Limb abnormalities

mutation in genes encoding homeodomain proteins - homeobox HOX or paired-box PAX

K-W $ WS-III => PAX -3

Von Hippel Lindau Syndrome

autosomal dominant

multiple hemangioblastomas (most frequently located in cerebellum) including retinal agiomas

clear cell renal cell carcinoma

endolymphatic sac tumors of the middle ear

pheochromocytomas

Li-Fraumeni Syndrome

mutation in p53 tumor suppressor gene