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Brachymorphism-onychodysplasia-dysphalangism syndrome

Disease definition

A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.


Classification level: Disorder
  • Synonym(s):
    • BOD syndrome
    • Senior syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.1
  • OMIM: 113477
  • UMLS: C1862082
  • MeSH: C536242
  • GARD: 918
  • MedDRA: -
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