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Brachytelephalangic chondrodysplasia punctata

Disease definition

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.

ORPHA:79345

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q77.3
  • OMIM: 302950  602497
  • UMLS: C1844853
  • MeSH: C535941
  • GARD: 1296
  • MedDRA: -

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