Microlissencephaly-micromelia syndrome

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Microlissencephaly-micromelia syndrome

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 September 2023.

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