Skeletal dysplasia is a heterogeneous group of disorders characterized by different forms of presentation altering skeletal growth and development. Skeletal Dysplasia has been classified according to the following four headings described below.
A. Osteochondrodysplasias
- Conditions primarily affect physis
- Achondroplasia
- Hypochondroplasia
- Conditions primarily affecting the epiphysis
- Multiple epiphyseal dysplasias
- Spondyloepiphyseal dysplasias
- Conditions primarily affecting the metadiaphysis
- Metaphyseal chondrodysplasias
- Condition with mixed abnormalities
- Pseudoachondroplasias
- Diastrophic dysplasias
- Cleidocranial dysplasias
- Nail Patella Syndrome
- Dysplasia with altered bone density
B. Storage Disease
- Mucopolysaccharidosis (MPS)
- MPS I: Hurlers (α-L-iduronidise)
- MPS II: Hunters (iduronate sulphatase)
- MPS III: Sanfilippo (Heparan sulphamidase)
- MPS IV: Morquio-Brailsford (β-galactosidase)
- MPS V: Scheine syndrome
- MPS VI: Maroteaox larry Syndrome
- Gaucher disease
C. Tumor-like conditions
- Multiple hereditary exostoses
- Dysplasia epiphysealis hemimelia (Trevor disease)
- Enchondromatosis (Ollier’s disease)
- Fibrous dysplasia
D. Connective tissue disorder
- Ehler- Danlos Syndrome
- Larson’s Syndrome
- Marfan’s Syndrome
