U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Brachyolmia-amelogenesis imperfecta syndrome

Brachyolmia-amelogenesis imperfecta syndrome

Synonyms
Amelogenesis imperfecta and platyspondyly; Dental anomalies and short stature; Platyspondyly with amelogenesis imperfecta; Skeletal dysplasia with amelogenesis imperfecta and platyspondyly; Tooth agenesis, selective, 6; Verloes Bourguignon syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported. [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: DASS, GPHYSD3, LTBP-3, LTBP2, STHAG6, pp6425, LTBP3
    Summary: latent transforming growth factor beta binding protein 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.