spondyloepimetaphyseal dysplasia, PAPSS2 type
MONDO:0019666Mondo
Findings
No curated finding names spondyloepimetaphyseal dysplasia, PAPSS2 type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
Definition from the Mondo Disease Ontology (MONDO:0019666), 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
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: spondyloepimetaphyseal dysplasia, PAPSS2 type
- Also called
- brachyolmia 4 with mild epiphyseal and metaphyseal changesspondyloepimetaphyseal dysplasia, Pakistani type