Microcephaly cervical spine fusion 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.

NIH genetic and rare disease info

NIH info on Microcephaly cervical spine fusion anomalies

Microcephaly cervical spine fusion anomalies is a rare disease.

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Rare diseases - Microcephaly cervical spine fusion anomalies
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Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

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Microcephaly cervical spine fusion anomalies
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