Spondylometaphyseal dysplasia, Golden type
ORPHA:168544· ICD-10 Q77.8
Definition
A rare spondylometaphyseal dysplasia 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. There have been no further description in the literature since 1977.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- No data available