Microcephaly-cervical spine fusion anomalies syndrome

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Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly facial dysmorphism (beaked nose low-set ears downslanting palpebral fissures micrognathia) mild intellectual deficit short stature and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.

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

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