brachyolmia-amelogenesis imperfecta syndrome (DOID:0090143)
Alliance: disease page
Synonyms: DASS; dental anomalies and short stature; platyspondyly with amelogenesis imperfecta; selective tooth agenesis 5; STHAG6
Alt IDs: OMIM:601216, ICD10CM:Q76.3, ORDO:2899
Definition: An autosomal recessive disease 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.