Spondyloepiphyseal dysplasia tarda
ORPHA:93284· ICD-10 Q77.7
Definition
A rare primary bone dysplasia characterized by postnatal onset of disproportionate short stature manifesting within the first two decades of life, associated with short trunk and short neck, arm span significantly greater than height, dorsal kyphosis, lumbar hyperlordosis, barrel-shaped chest, and progressive joint and back pain with precocious osteoarthritis.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood