Aplasia cutis-myopia syndrome
Synonyms: Gershoni-Baruch-Leibo syndrome
A rare disorder characterised 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Aplasia cutis-myopia syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.