spondylometaphyseal dysplasia, Golden type
Findings
No curated finding names spondylometaphyseal dysplasia, Golden type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.
Definition from the Mondo Disease Ontology (MONDO:0010738), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: spondylometaphyseal dysplasia, Golden type
- Also called
- X-linked spondylometaphyseal dysplasia