brachyolmia-amelogenesis imperfecta syndrome

Term ID

DOID:0090143

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. (2)

References

• GARD:5478
• ICD10CM:Q76.3
• OMIM:601216
• ORDO:2899

Ontology

Human Disease   ( DOID:0090143 )