Aplasia cutis-myopia syndrome

MONDO:0010988

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: Gershoni-Baruch-Leibo syndrome, aplasia cutis myopia, aplasia cutis congenita, high myopia, and cone-rod dysfunction

7 clinical trials for this condition and its sub-types.

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