Achondroplasia

Epidemiology
• Most common form of dwarfism/ MC skeletal dysplasia
• Prevalence- 1/15,000-30,000
• No gender predilection
• Risk factor –Advanced paternal age (>36years)
• Life expectancy- 61 years, highest mortality <4 years
Genetics
• 80-90%- sporadic
• 10%- AD, complete penetrance
• FGFR3 mutation (glycine to arginine substitution)- Chr-
4p
• Receptor overactivity- inhibits endochondral
ossification
• Usually heterozygous, homozygous is fatal
Pathophysiology

• FGFR3 has 3 domains- Extracellular,

Transmembranous(defect),
Intracellular
• inhibit proliferation and terminal
differentiation of chondrocytes in
growth plate
• Mutated FGFR3- does not undergo
ubiquitin degradation.
• C- natriuretic peptide decreases FGFR
3 activity.
• Intramembranous ossification normal (
clavicle, skull and bone girths normal)
Clinical Features
• Short stature (detectable on antenatal USG-
femoral length)
• Trunk height Normal, arm span and height
decreased.
• Rhizomelic micromelia
• Fingertips reach only up to GT
• Mid point of stature- inferior end of sternum
• Average height 4’3”-males, 4’1”- females
Clinical Features
• Normal Intelligence
• Hearing impairment, recurrent ear infections
• Delayed motor milestones
• Obesity
 Facial Features
• Frontal Bossing
• Small Maxilla
• Large Mandible (Midface
Hypoplasia)
• Head large compared to body (
mistaken for hydrocephalus)
Hand
• bradydactyly (short digits)
• trident hands (fingers same length (Starfish hand) with divergent ring
and middle fingers)
• limited elbow extension
• radial head subluxation
• posterior bowing of humerus
• hypermobile hips and knees
• genu varum
• muscular hypotonia
 Radiographic findings
• Shortened Long bones
• Wide, flared metaphysis
• Inverted V/ U growth plates
• Champagne glass pelvis (pelvis wider than deep)
• Flat horizontal acetabulum
• Squared Ilium
• Narrow sciatic notch
• Delayed ossification of proximal femoral epiphysis.
• Trochanteric overgrowth (pseudo varus)
• Shortened pedicles
• Decreasing inter pedicular distance L1-L5
Posterior Vertebral scalloping
Diagnosis
• Antenatal USG – increased BPD, short femur length
• FGFR genetic study
• Must be differentiated from lethal forms of dwarfism like
thanatophoric and achondrogenesis
• In older children, can confuse with Morquio/ hypochondroplasia
Orthopaedic Considerations
Craniocervical Stenosis
• Sudden death reported in infants
• Hypotonia and Sleep apnea
• Hypotonia- delay in motor milestones, clonus/hyper reflexia-
alarming, progressive quadriparesis
• Sleep apnea- Central (cervical spinal cord compression), Peripheral
(midface hypoplasia)
• Sleep studies to differentiate. SSEPs to diagnose central apnea
• MRI- abnormal CSF flow, myelomalacia, medullary compression,
intramedullary cyst
Treatment
• Foramen magnum decompression- suboccipital craniectomy + C1
laminectomy+ duraplasty
• Surgery only if- neurological deficits, MRI (6-12months age)shows
compression, central sleep apnea
Hydrocephalus
• Communicating hydrocephalus may occur
Thoracolumbar Kyphosis
• Kyphosis @ thoracolumbar junction seen in all infants
• More evident on sitting
• Gradually resolves as child starts to walk
• Etiology-
1. Large Head
2. Hypotonia
3. Hip flexion contracture
Thoracolumbar Kyphosis
• Avoid unsupported sitting, TLSO for infants (avoids structural
changes) – must use if persistent deformity @3 years
• Surgery-
1. Persistent kyphosis- age >5yrs, with >30 degrees residual deformity
2. Progressive kyphosis
3. Neurological deficit
Surgical Considerations
• Posterior fusion, anterior decompression
• Spinal canal stenosis and lack of subarachnoid fluid make posterior
instrumentation risky.
• Anterior surgery for young children <4 years, >50 degree kyphosis
Spinal Stenosis
• Lumbar Canal stenosis
• Usually in third decade
• 1/3rd patients- neurogenic claudication, relieve pain by bending
forwards
• L1 interpedicular distance <20mm, L5 <16mm- increased risk
• TL Kyphosis + Lumbar hyperlordosis + interpedicular narrowing-
predisposition
Treatment
• Laminectomy + extensive lateral
decompression.
• 3 levels cephalad to myelographic block till
S2
• Burrs, no room for rongeur
• Dusion if laminectomy of more than 5 levels
Angular deformities

• Common- genu varum and tibia vara

• Relative overgrowth of fibula as
compared to tibia
• Degenerative changes are rare
• 7-10 years- proximal or distal fibular
epiphysiodesis
• Proximal tibia and fibular osteotomy
Short stature
• Limb lengthening- controversial
• Adolescence
• 35% of initial length
• Don’t reach normal average height.
• Bilateral femur or tibia
• Increased risk of peroneal nerve palsy
Short Stature
• Growth Hormone therapy- daily, gain 6-8 cm over 5 years
• Vosoritide- C Natriuretic peptide analogue- older than 5 years and
open physis