spondylometaphyseal dysplasia
MONDO:0016763Mondo
Findings
No curated finding names spondylometaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.
Definition from the Mondo Disease Ontology (MONDO:0016763), 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.
- PLCB3HGNC:9056
- Limited · Franklin by Genoox · Autosomal recessive · 2020
Where it sits
- A kind of
- Narrower terms (19)
- autosomal recessive spondylometaphyseal dysplasia, Megarbane type
- axial spondylometaphyseal dysplasia
- Kniest dysplasia
- odontochondrodysplasia
- regressive spondylometaphyseal dysplasia
- SBDS-related severe neonatal spondylometaphyseal dysplasia
- Spondyloenchondrodysplasia with immune dysregulation
- spondyloepimetaphyseal dysplasia, Strudwick type
- spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
- spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- spondylometaphyseal dysplasia, 'corner fracture' type
- spondylometaphyseal dysplasia, A4 type
- spondylometaphyseal dysplasia, Czarny-Ratajczak type
- spondylometaphyseal dysplasia, East African type
- spondylometaphyseal dysplasia, Golden type
- spondylometaphyseal dysplasia, Kozlowski type
- spondylometaphyseal dysplasia, pagnamenta type