split hand-foot malformation 1 with sensorineural hearing loss — Definition

Sensörinöral işitme kaybı ile birlikte yarık el-ayak malformasyonu tip 1; half-hand-foot malformation type 1 with sensory hearing loss is a rare genetic disease characterized by semi-like separations (extromintili) and internal ear-borne hearing loss. This condition is often caused by mutations in DLX5 or DLX6 genes and indicates autozomal dominant inheritance. Deformities such as absence or merger of mid fingers in patients, hearing loss may occur innate or during childhood. Clinical findings may vary between individuals and the treatment contains symptomatic approaches.

The Turkish equivalent of "split hand-foot malformation 1 with sensorineural hearing loss" is Sensörinöral işitme kaybı ile birlikte yarık el-ayak malformasyonu tip 1.

This term belongs to the Diseases category.