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Osteocraniostenosis

Disease definition

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

ORPHA:2763

  • Synonym(s):
    • Gracile bone dysplasia
    • Osteocraniosplenic syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q78.0
  • OMIM: 602361
  • UMLS: C1865639
  • MeSH: -
  • GARD: 3396
  • MedDRA: -

Detailed information

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