Medical term for short stature (dwarfism is no longer used); more than 300 types of skeletal dysplasia have been described

Aetiology

• Genetic error (hereditary or sporadic mutation) resulting in abnormal development of bone and connective tissue

Pathophysiology

• Short stature may be proportionate (limbs and spine proportionally short) or disproportionate (limbs proportionally shorter or longer than spine)
• Achondroplasia is the most common type of skeletal dysplasia
  • May be autosomal dominant, however over 80% of cases are sporadic
  • Results in disproportionately short limbs with a prominent forehead and widened nose
  • Joints are lax and mental development is normal
• Other skeletal dysplasias can be associated with learning difficulties, spine deformity, limb deformity, internal organ dysfunction, craniofacial abnormalities, skin abnormalities, tumour formation (especially haemangiomas), joint hypermobility, atlanto‐axial subluxation, spinal cord compression (myelopathy) and intrauterine or premature death