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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
microcephaly cervical spine fusion anomalies
related
microcephaly, mild intellectual disability, short stature, and skeletal anomalies
related
microcephaly, mild mental retardation, short stature, and skeletal anomalies
related