Autosomal recessive melnick-needles syndrome

An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities.

Disease Alternative Name

branchio-oto-renal syndrome
melnick-fraser syndrome