anauxetic dysplasia
MONDO:0011773Mondo
Findings
No curated finding names anauxetic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.
Definition from the Mondo Disease Ontology (MONDO:0011773), read 2026-09-29. CC BY 4.0.
Genes
2 genes
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.
Where it sits
- A kind of
- Narrower terms (3)
Other names
4 names
Resolves to: anauxetic dysplasia
- Also called
- anauxetic dysplasia type 1spondyloepimetaphyseal dysplasia, anauxetic typespondyloepimetaphyseal dysplasia, Menger typespondylometaepiphyseal dysplasia, Menger type