Microcephaly-micromelia syndrome

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Synonyms: MIMIS

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe intrauterine growth retardation profound microcephaly dysmorphic craniofacial features (such as craniosynostosis and distinctive facial appearance with short palpebral fissures broad and beaked nose microstomia micrognathia low-set ears and short neck) and variable malformations of the limbs especially the arms. Cardiac gastrointestinal and genitourinary anomalies have also been reported. Brain imaging shows gray and white matter abnormalities and hypoplastic or absent corpus callosum. The disease is commonly fatal in the fetal to neonatal period due to respiratory failure.

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 May 2024

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