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Brachyolmia-amelogenesis imperfecta syndrome

Disease definition

Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

ORPHA:2899

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

Additional information

Further information on this disease

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