brachyolmia-amelogenesis imperfecta syndrome
Findings
No curated finding names brachyolmia-amelogenesis imperfecta syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
Definition from the Mondo Disease Ontology (MONDO:0011018), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- OligodontiaHPOHP:0000677
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- ScoliosisHPOHP:0002650
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LTBP3HGNC:6716
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
6 names
Resolves to: brachyolmia-amelogenesis imperfecta syndrome
- Also called
- DASSdental anomalies and short statureplatyspondyly with amelogenesis imperfectaplatyspondyly-amelogenesis imperfecta syndrometooth agenesis, selective, 6Verloes-Bourguignon syndrome