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Osteopathia striata-cranial sclerosis syndrome

Disease definition

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

ORPHA:2780

Classification level: Disorder
  • Synonym(s):
    • Hyperostosis generalisata with striations
    • Robinow-Unger syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.8
  • OMIM: 300373
  • UMLS: C0432268
  • MeSH: C536053
  • GARD: 4148
  • MedDRA: -

Detailed information

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