Microcephaly cervical spine fusion anomalies

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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.

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Last updated: 5/1/2007

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