microcephaly-cervical spine fusion anomalies syndrome

Rare Disease

MONDO:0009621

Also Known As

microcephaly cervical spine fusion anomaliesmicrocephaly with cervical spine fusion anomaliesmicrocephaly, mild intellectual disability, short stature, and skeletal anomaliesmicrocephaly, mild mental retardation, short stature, and skeletal anomalies

Definition

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.