Microcephaly-cervical spine fusion anomalies syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Microcephaly-cervical spine fusion anomalies syndrome?
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