Aplasia cutis-myopia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Reference: Access aggregated data from Orphanet at Orphadata.

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.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.