Term Name:	brachyolmia-amelogenesis imperfecta syndrome
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 )