Microphthalmia with linear skin defects syndrome
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 April 2024
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Microphthalmia with linear skin defects syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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