dwarfism

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 

 

Spondyloepiphyseal dysplasia

Type

 

Disproportionate dwarfism with a short trunk

 

Problems with dwarfism, spine, vision and hearing

 

Definition

 

Primary involvement of vertebrae & epiphyseal centres of limbs

 

Resulting short-trunk dwarfism

- Limb are short, but trunk is even shorter

 

(cf Metaphyseal Chondrodysplasia - Short limbed Dwarf)

 

Types