Version: 8.0.0
Date: Tue Jan 28 2025
brachyolmia-amelogenesis imperfecta syndrome
DOID:0090143
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

brachyolmia-amelogenesis imperfecta syndrome

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.
Synonyms
  • DASS
  • dental anomalies and short stature
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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