A Background
Definition Short Stature
< 1.25 m in adult
Types
1. Proportionate dysplasia
- mucopolysaccharidoses
- Morquio's, Hurler's, Hunter's
2. Dysproportionate dysplasia
- short trunk / SED
- short limb / achondroplasia & MED
Proportionate dysplasia / Symmetrical decrease in limb and trunk length
Mucopolysaccharidoses
- Morquio's, Hurler's, Hunters
Cleidocranial Dysplasia
Severe OI
Severe Osteopetrosis
Hypophosphatasia
Hypophosphataemia
Dysproportionate dysplasia
A. Short trunk
- SED
- Kniest's syndrome
- Metatropic dysplasia
B. Short limb
- Achondroplasia / Pseudoachondroplasia
- MED
- Diastrophic dysplasia
Rhizomelic - proximal
Mesomelic - middle
Acromelic - distal
Specific Conditions
1. Achondroplasia / Pseudochondroplasia
Dysproportionate dwarfism
- short limbs, normal trunk
Characteristics
- coxa vara, genu varum
- radial and tibial bowing
- radial head dislocation
- metaphyseal flaring with inverted V shaped distal femoral physis
- Square iliac wings
Problems
- spinal problems i.e. stenosis
- coxa vara / genu varum
2. MED
Dysproportionate dwarfism
- short limbs, normal trunk
Characteristics
- irregular delayed ossification at multiple epiphyses
Problems
- coxa vara, genu valgum
3. SED
Dysproportionate dwarfism
- short trunk
Characteristics
- similar to MED but involves spine
Problems
- coxa vara / genu valgum
- spine (kyphoscoliosis / platyspondyly / ondontoid hypoplasia /atlanto-axial instability)
4. Metaphyseal chondrodysplasia
Characteristics
- metaphyseal changes with normal epiphyses
- can look like rickets
Problems
- coxa vara / genu valgum
5. Progressive Diaphyseal Dysplasia
Engelmann Disease
Characteristics
- diffuse sclerotic thickening of cortex
6. Dysplasia Epiphysealis Hemimelica
Trevor's Disease
Characteristics
- epiphyseal osteochondroma
- affects one joint only
- often ankle
- often medial
7. Mucopolysaccaridoses
Proportionate dwarfism with complex sugars in urine
Morquio's syndrome
- AR
- presents 18 months to 2 years with waddling gait
- keratan sulphate in urine
- normal intelligence
Hurler's
Hunter's
8. Dysplasias associated with Benign Bone growths
Diaphyseal aclasia / multiple osteochondromas
Fibrous dysplasia
Ollier's
Maffucci's