autosomal recessive brachyolmia
Findings
No curated finding names autosomal recessive brachyolmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
Definition from the Mondo Disease Ontology (MONDO:0018662), read 2026-09-29. CC BY 4.0.
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.
- PAPSS2HGNC:8604
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: autosomal recessive brachyolmia
- Also called
- brachyolmia, autosomal recessivebrachyolmia, Hobaek/Toledo type