Hearing Loss Nonsyndromic Deafness (2) Palmoplantar Karatoderma (3) Hystrix-like Ichthyosis (4) Bart-Pumphrey Syndrome (5) Vohwinkel syndrome (6) Karatitis-ichthyosis- deafness (KID)

Gene
GJB2
Location
13q11-q12
Disease
Hearing Loss Nonsyndromic Deafness (2) Palmoplantar Karatoderma (3) Hystrix-like Ichthyosis (4) Bart-Pumphrey Syndrome (5) Vohwinkel syndrome (6) Karatitis-ichthyosis- deafness (KID)
Description
Several conditions can cause hearing damage or loss in infants. Listed are the disorders caused by mutations in the GJB2 gene.
Signs and Symptoms
(1) Damage to inner ear structure resulting in permanent hearing loss. (2) Mild to profound hearing loss, skin abnormalities. Increased risk of skin cancer. (3) Dry, thick scaly skin and profound hearing loss, which may worsen over time. Increased risk of skin cancer. (4) Discoloration of nails and wart-like growths on fingers and toes. Hearing loss is profound. (5) Symptoms include hearing loss, starfish-shaped patches of skin on fingers, toes and knees, and tight fibrous tissue around fingers and toes resulting in amputation. (6) Profound hearing loss, vision loss
Type
Other Disorders
Category
Core

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