Spondyloepimetaphyseal dysplasia, PAPSS2 type
ORPHA:93282· ICD-10 Q77.7
Definition
A rare spondyloepimetaphyseal dysplasia characterized by disproportionate short stature associated with variable manifestations, including short lower limbs, genu varum, genu valgum, mild brachydactyly, spinal deformity, such as kyphoscoliosis, abnormal gait, enlarged knee and ankle joints, patella dislocations, limited flexion in the metacarpophalangeal joints, precocious osteoarthropathy, stiffness, and pain.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal