Orphanet: Microcephaly cervical spine fusion anomalies syndrome

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Microcephaly-cervical spine fusion anomalies syndrome

Disease 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.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 251250
  • UMLS: C0796066
  • MeSH: C537325
  • GARD: 3610
  • MedDRA: -

Detailed information


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