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 propotionally 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
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