Achondroplasia
Pathology
- Commonest form of disproportionate short stature with proximal shortening of long bones
- Equally common in males and females
- Genetics
- AD with complete penetrances
- 80% new mutations
- Genes: Fibroblast growth factor 3 (FGFR-3) mapped to chromosome 4p16.3
Approach
- Step back
- Talk systematically through physical appearance of patient
- Inspection
- Reduced height
- Normal trunk size
- Shorted extremities
- Hands - short, broad, wedge shaped
- Skull: - macrocephaly, frontal bossing, saddle nose, maxillary hypoplasia, mandibular prognathism (protrusion of jaw)
- Spine: thoracolumarkyphosis, excessive lumbar lordosis
- knees: genu varum
- Palpation
- Percussion
- Auscultation
Completion
- Take history
- Assess effect on patients quality of life
Treatment options
- Non-surgical
- Subcutaenous human growth hormone to increase height
- Surgical
- Limb lengthening using distraction devices - correct body proportion and axial deviation
- Regional specific: spinal, correct genu valgum
