Table 1 Characteristics of the three most common congenital skeletal dysplasias in Finland
Health condition | Clinical features |
|---|---|
Diastrophic dysplasia (autosomal recessive inheritance) OMIM #222,600 | Disproportionate short stature with short arms and legs, scoliosis, joint deformities and contractures, and foot deformities |
Normal mental development and life expectancy | |
Progressive degenerative changes of the articular cartilage and severe joint deformities often require hip and knee arthroplasties at an early age | |
Adult height 130–140 cm | |
More common in Finland than in any other country | |
Achondroplasia (autosomal dominant inheritance) OMIM #100,800 | Characteristic appearance of disproportionate short stature with short limbs and long spine |
Other complications include e.g. delayed motor milestones and leg deformities in childhood; spinal stenosis, pain, and complications with aging | |
Normal cognition and overall physical development and are productive and independent adults | |
Adult height 120–135 cm | |
The most common skeletal dysplasia worldwide | |
Cartilage-hair hypoplasia (autosomal recessive inheritance) OMIM #250,250 | A highly pleiotropic disorder with many features involving various extra-skeletal organ systems |
Disproportionate stature with short limbs, normal joint function, sparse hair, variable immunodeficiency and predisposition to malignancies | |
Normal intelligence and developmental milestones | |
Adult height 104–149 cm | |
More common in Finland than in any other country |