Aplasia cutis-myopia syndrome
Aplasia cutis-myopia syndrome
Definition
Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
Also known as aplasia cutis myopia, Gershoni-Baruch-Leibo syndrome — per MONDO