Term Name: | brachyolmia-amelogenesis imperfecta syndrome |
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Synonyms: | DASS, dental anomalies and short stature, platyspondyly with amelogenesis imperfecta, selective tooth agenesis 5, STHAG6 |
Definition: | A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. |
Ontology: | Human Disease [DOID:0090143] ( DOID:0090143 ) |