Microlissencephaly-micromelia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Basel-Vanagaite-Sirota syndrome

Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development characterized by severe prenatal polyhydramnios postnatal microcephaly lissencephaly upper limb micromelia dysmorphic facies (coarse face hypertrichosis and short nose with long philtrum) intractable seizures and early death. Hypoparathyroidism was noted in one case.

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 June 2024

Newly diagnosed with
Microlissencephaly-micromelia 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.