Microphthalmia with linear skin defects syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: MCOPS7 | MIDAS syndrome | MLS syndrome | Microphthalmia-dermal aplasia-sclerocornea syndrome | Syndromic microphthalmia type 7

A rare X-linked syndromic eye disorder characterized by ocular defects (microphthalmia orbital cysts corneal opacities) and linear skin dysplasia of the neck head and chin. Additional findings may include agenesis of corpus callosum sclerocornea chorioretinal abnormalities hydrocephalus seizures intellectual deficit and nail dystrophy.

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 July 2024

Newly diagnosed with
Microphthalmia with linear skin defects 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

Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

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