Skeletal Dysplasia

Question 1

what is this term used to describe

Answer 1

short stature (dwarfism is no longer used)

Question 2

what causes this

Answer 2

genetic error (hereditary or sporadic)

Question 3

what does the genetic error result in

Answer 3

abnormal development of bone and connective tissue

Question 4

what is the commonest type of skeletal dysplasia

Answer 4

achondroplasia

Question 5

what is the inheritance of achondroplasia

Answer 5

autosomal dominant however 80% are sporadic

Question 6

is achondroplasia proportional or disproportional

Answer 6

disproportional

Question 7

what are some features of achondroplasia

Answer 7

disproportionately short limbs, prominent forehead and widened nose, lax joints, normal mental development

Question 8

what can other skeletal dysplasia’s be associated with

Answer 8

learning difficulties, spine deformation, limb deformity, internal organ dysfunction, craniofacial abnormalities, skin abnormalities, tumour formation (especially haemangiomas), joint hypermobility, atlanto-axial subluxation, spinal cord compression (myelopathy), intrauterine or premature death

Question 9

what does orthopaedic treatment consist of

Answer 9

deformity correction (severe scoliosis), limb lengthening and growth hormone therapy could be considered