WAARDENBURG SYNDROME
type 2

by: Ailsa Beggs & Sarah Eddy

DIAGNOSIS

• almost 4 years old
• different eye colors, birthmarks, doesn't respond to sound
• Waardenburg Syndrome (correct)

GENETICS

• chromosome #3
• MITF gene
• microphthalmia-associated transcription factor
• the protein helps in the survival and function of some cells
• causes hearing loss and changes in color of the hair, skin, and eyes

MEDICAL

• 0.0025% of people, 50% w/disease have type 2
• there is currently no treatment for anything but for hearing loss
• different color eyes, birthmarks, and hearing loss
• immediate attention to hearing loss, possible therapy, sign language

AUTOSOMAL DOMINANT

AUTOSOMAL RECESSIVE

SOURCES

• http://ghr.nlm.nih.gov/condition/waardenburg-syndrome
• http://emedicine.medscape.com/article/950277-overview
• http://ghr.nlm.nih.gov/gene/MITF
• http://ghr.nlm.nih.gov/condition/waardenburg-syndrome
• http://rarediseases.info.nih.gov/gard/5520/waardenburg-syndrome-type-2/reso...

SOURCES

• http://en.wikipedia.org/wiki/Waardenburg_syndrome,
• http://emedicine.medscape.com/article/1113314-treatment