albinism-hearing loss syndrome

Albinism-hearing loss syndrome is a rare genetic condition that mainly affects the ears and skin. It is characterized by congenital nerve deafness and distinctive skin pigment changes known as piebaldness. Unlike some other forms of albinism, there is no eye involvement in this condition. The condition has been reported in one large family pedigree, with males typically experiencing profound sensorineural hearing loss and marked pigment changes, while carrier females may have some hearing impairment but usually do not show noticeable pigment changes. The syndrome follows an X-linked pattern of inheritance, meaning that the gene involved is located on the X chromosome.

People with albinism-hearing loss syndrome usually experience significant hearing loss from birth due to nerve deafness. In affected males, there are also severe skin pigment abnormalities (piebaldness), while carrier females might have milder or variable hearing problems without changes in skin pigmentation.

Albinism-hearing loss syndrome is caused by a genetic change that affects the ADFN gene, which is located on the X chromosome at Xq26.3-q27.1. The condition is inherited in an X-linked pattern. This means that males who inherit the gene change are more severely affected, while females who carry the gene may have milder symptoms.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition. Generally, management focuses on supporting hearing and addressing any related challenges, though detailed long-term outcomes have not been extensively described.

Information about current research and future directions is currently limited for this condition.