/brachyolmia-amelogenesis imperfecta syndrome

brachyolmia-amelogenesis imperfecta syndrome

Rare Disease

MONDO:0011018

Also Known As

DASSSTHAG6Verloes-Bourguignon syndromedental anomalies and short statureplatyspondyly with amelogenesis imperfectaplatyspondyly-amelogenesis imperfecta syndromeselective tooth agenesis 5tooth agenesis, selective, 6Verloes Bourguignon syndromeamelogenesis imperfecta and platyspondylyskeletal dysplasia with amelogenesis imperfecta and platyspondylytooth agenesis, selective, 6, formerly

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.