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.

Also known as: microcephaly cervical spine fusion anomalies, microcephaly with cervical spine fusion anomalies, microcephaly, mild intellectual disability, short stature, and skeletal anomalies, microcephaly, mild mental retardation, short stature, and skeletal anomalies

0 clinical trials for this condition and its sub-types, 0 tagged with Microcephaly-cervical spine fusion anomalies syndrome itself.