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Brachyolmia-amelogenesis imperfecta syndrome

Disease definition

An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.

ORPHA:2899

Classification level: Disorder
  • Synonym(s):
    • Platyspondyly-amelogenesis imperfecta syndrome
    • Verloes-Bourguignon syndrome
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q76.3
  • OMIM: 601216
  • UMLS: C1832594
  • MeSH: -
  • GARD: 5478
  • MedDRA: -
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