Keratoderma palmoplantar deafness
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs104894404 | 6 |
| rs121912968 | 6 |
| rs199474818 | 6 |
| rs28931593 | 6 |
| rs80338939 | 6 |
| rs80338942 | 6 |
| rs879253741 | 0 |
Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.Genetics Home Reference
Palmoplantar keratoderma with deafness can be caused by certain mutations in the GJB2 (inherited dominantly) or MT-TS1 (inherited mitochondrially, i.e. maternally) genes.
