Review Article

Achondroplasia:
Manifestations and Treatment

Abstract
Eric D. Shirley, MD Achondroplasia, the most common skeletal dysplasia, is caused by
Michael C. Ain, MD a mutation of fibroblast growth factor receptor-3. This disorder is
characterized by frontal bossing, midface hypoplasia, otolaryngeal
system dysfunction, and rhizomelic short stature. Orthopaedic
manifestations are exhibited in the spine and the extremities. In the
infant with achondroplasia, foramen magnum stenosis may result in
brainstem compression with apnea and sudden death.
Thoracolumbar kyphosis is seen in most infants, but typically it
resolves when the child begins to walk. Anatomic anomalies of the
vertebral column place the patient at risk for spinal stenosis as
early as the first decade and especially during adulthood. Radial
head dislocation is one manifestation in the upper extremity. Lower
extremity alignment often is characterized by genu varum, which
may require correction osteotomy. Medical and surgical options are
available to increase patient height, but indications are
controversial, and treatment often consumes a large portion of the
child’s life.

Dr. Shirley is Lieutenant
Commander, Medical Corps, United
States Navy, and Attending Pediatric
Orthopaedic Surgeon, Naval Medical
Center Portsmouth, Portsmouth, VA.
Dr. Ain is Associate Professor,
Departments of Orthopaedic Surgery
and Neurosurgery, Johns Hopkins
Hospital, Baltimore, MD.
None of the following authors or a
member of their immediate families
has received anything of value from
or owns stock in a commercial
company or institution related
directly or indirectly to the subject of
this article: Dr. Shirley and Dr. Ain.
Reprint requests: Dr. Ain, c/o Elaine
P. Henze, BJ, ELS, Medical Editor,
Department of Orthopaedic Surgery,
Johns Hopkins Bayview Medical
Center, 4940 Eastern Avenue,
#A672, Baltimore, MD 21224.
J Am Acad Orthop Surg 2009;17:
231-241
Copyright 2009 by the American
Academy of Orthopaedic Surgeons.
G
lobally, achondroplasia is the most
common skeletal dysplasia, with
an incidence of 1 in 30,000 live
births annually.1 The term achondro-
plasia—meaning “without cartilage
formation”—was first used by Par-
rot2 in 1878 to distinguish the dys-
plasia from rickets, which manifests
with proportionately short stature.
Achondroplasia is characterized by
foramen magnum stenosis, thora-
columbar kyphosis, spinal stenosis,
genu varum, and short stature.3,4 Be-
cause these manifestations may be-
come symptomatic during childhood
or adulthood, patients with achon-
droplasia are treated by specialists in
pediatric or adult orthopaedic sur-
gery.
Etiology
Achondroplasia is caused by muta-
tions of the gene encoding fibroblast
growth factor receptor-3 (FGFR3)
on the distal short arm of chromo-
some 4.5 FGFR3 mutations also have
been found in individuals with than-
atophoric dysplasia and hypochon-
droplasia. Most persons with the
typical clinical features of achondro-
plasia have the same recurrent
G380R mutation. This mutation
substitutes an arginine for a glycine
residue in the transmembrane do-
main of the tyrosine-coupled trans-
membrane receptor in the physis.6
The typical product of the FGFR3
gene is an FGFR3 monomer. The
monomers dimerize when fibroblast
growth factor ligands bind to
FGFR3. Dimerization alters the re-
ceptor and activates its tyrosine ki-
nase activity, which leads to phos-
phorylation of selected tyrosine
residues in the cytoplasmic domain
of the receptor. Phosphorylation of

April 2009, Vol 17, No 4 231

Achondroplasia: Manifestations and Treatment
Figure 1
Anteroposterior radiograph
demonstrating interpediculate
narrowing of the lumbar spine in a
13-year-old boy with
achondroplasia.
these tyrosine residues allows them
to serve as docking sites for signaling
molecules that are recruited to the
receptor and subsequently initiate
the propagation of signals that result
in the inhibition of chondrocyte pro-
liferation and differentiation.7 The
precise mechanism is unknown, but
the stabilization of FGFR3 dimeriza-
tion by mutation results in a gain of
function by enhancing the receptor’s
kinase activity.7
The clinical result of this mutation
is underdevelopment and shortening
of the long bones formed by endo-
chondral ossification. It is not
known why growth zones of the
proximal portions of the extremities
are affected more than the distal
ones and more than those in the
trunk. Articular cartilage formation
is normal in the patient with achon-
droplasia.
Inheritance is transmitted as a fully
penetrant autosomal dominant trait.
However, more than 80% of cases
are sporadic, and the individuals are
the offspring of parents of normal
stature.1 Paternal age at the time of
conception has been reported to be
higher in fathers of patients with
232
Figure 2
Anteroposterior radiograph of the
distal femur demonstrating an
inverted-V–shaped physis
characteristic of achondroplasia in
a 6-year-old boy.
achondroplasia than in the general
population, which suggests that de
novo mutations of paternal origin
are involved.1
Diagnosis
When achondroplasia is clinically
suspected, radiographs from a skele-
tal survey can generate a differential
diagnosis and confirm the definitive
diagnosis.8 The key feature is the
narrowing of the interpediculate dis-
tance from L1 to L5 on the antero-
posterior (AP) lumbar spine radio-
graph (Figure 1). Although this
radiographic finding is characteristic
of achondroplasia, it is not present in
all patients with the condition. Other
radiographic abnormalities include
underdeveloped facial bones, skull
base, and foramen magnum; squared
iliac wings; rhizomelic shortening
and flared metaphyses of the long
bones; and a pronounced inverted-V
Journal of the American Academy of Orthopaedic Surgeons
shape of the distal femoral physes
with normal distal femoral epiphyses
(Figure 2). The metacarpals and
metatarsals are all almost equal in
length.
Occasionally, the diagnosis can be
established by prenatal testing.
When the family history is positive
and the parents desire a prenatal di-
agnosis, chorionic villus sampling at
11 to 13 weeks of gestation or am-
niocentesis after 15 weeks of gesta-
tion can be performed. These tests
allow the use of polymerase chain re-
action and restriction enzyme frag-
ment polymorphism to detect the
FGFR3 G380R point mutation.
Development of
Manifestations
The multiple manifestations of
achondroplasia present at different
stages of life. Short stature is evident
at birth, with trunk length in the
lower range of normal and extremi-
ties shortened in a rhizomelic pat-
tern.3 The face is characterized by
frontal bossing and midface hypo-
plasia secondary to the endochon-
dral origin of facial bones. Although
mental development is normal, mo-
tor development may be delayed. De-
layed motor development or apnea
in infants may be the result of fora-
men magnum stenosis. As affected
infants age and begin to sit, most de-
velop thoracolumbar kyphosis. Genu
varum may increase as the child
grows, and lumbosacral hyperlordo-
sis may become evident. Spinal
stenosis may become symptomatic in
the adolescent or adult child with
achondroplasia.
Foramen Magnum Stenosis
Foramen magnum stenosis is the first
spinal manifestation to appear in the
development of the person with
achondroplasia. This condition is re-
sponsible for the higher mortality

rate (2% to 5%) seen in infants with
achondroplasia.9 Foramen magnum
stenosis also may cause signs or
symptoms of chronic brainstem com-
pression (eg, apnea, lower cranial
nerve dysfunction, difficulty swal-
lowing, hyperreflexia, hypotonia,
weakness or paresis, clonus) and se-
vere developmental delay. The most
common presenting symptom is res-
piratory difficulty with excessive
snoring or apnea.10
The American Academy of Pediatrics
recommends screening for foramen
magnum stenosis with polysomnogra-
phy and computed tomography (CT)
or magnetic resonance imaging (MRI)
in all infants with achondroplasia.9
Because CT and MRI require seda-
tion, an alternative screening ap-
proach is to obtain advanced imag-
ing only when the sleep study is
positive. MRI is preferred to CT be-
cause the former provides better vi-
sualization of the brainstem and up-
per cervical spinal cord (Figure 3).
Foramen magnum stenosis most
commonly presents and requires
treatment during the first 2 years of
life, but affected persons may be-
come symptomatic later in life. Bag-
ley et al10 reviewed 43 children with
achondroplasia with foramen mag-
num stenosis who underwent a fora-
men magnum decompression and
upper cervical laminectomy, with or
without duraplasty. The mean age at
the time of operation was 70 months
(range, 2 to 199 months), and
the mean duration of symptoms was
7 months (range, 1 to 12 months).
Intraoperative ultrasonography was
used to confirm satisfactory spinal
canal decompression. Duraplasty was
performed when compression persisted
despite bony and fibrous decom-
pression. Complications included cer-
ebral spinal fluid leaks in seven pa-
tients, recurrent stenosis requiring
revision surgery in five, and infection
in four.
April 2009, Vol 17, No 4
Figure 3
T1-weighted magnetic resonance
imaging scan demonstrating
foramen magnum stenosis in a
7-year-old girl.
Thoracolumbar Kyphosis
Thoracolumbar kyphosis develops in
most infants with achondroplasia
(Figures 4 and 5). The newborn with
achondroplasia typically has a thora-
columbar kyphosis of 20°.11 When
sitting begins, the infant often
slumps forward because of trunk hy-
potonia in combination with a rela-
tively oversized head, a flat chest,
and a protuberant abdomen. Re-
peated slumping forward results in a
gentle kyphosis that typically in-
volves T10 to L4, with or without
anterior vertebral wedging.
The frequency of kyphosis in
achondroplasia is 87% from age 1
year to 2 years, 39% from age 2 to 5
years, and 11% from age 5 to 10
years.11 The decrease in frequency
occurs because most kyphoses tend
to resolve at age 12 to 18 months as
trunk strength improves and the
child begins to walk. Persistent ky-
phosis can result in deformity pro-
gression, hip flexion contracture,
and hyperlordosis. In addition, the
kyphosis can increase the severity of
spinal stenosis, resulting in neuro-
Eric D. Shirley, MD, and Michael C. Ain, MD
Figure 4
Clinical photograph of an infant
with thoracolumbar kyphosis with a
kyphotic angle of 45°.
logic compromise with paresthesias,
sciatic pain, inability to walk, and
neurologic incontinence.
Pauli et al12 recommend early pro-
hibition of unsupported sitting with
bracing as needed to prevent persis-
tent kyphosis. Before the infant
reaches age 1 year, parents are coun-
seled to prohibit unsupported sitting
and to use firm-backed seating de-
vices, avoid curling the infant into a
C-position, use hand counterpressure
when holding the infant, and pro-
hibit sitting up more than 60°. Sit-
ting in a seat that has been adjusted
to a 45° angle allows the infant to in-
teract with others without placing
disproportionate weight on the ante-
rior part of the vertebrae. Bracing is
initiated if the kyphosis develops a
fixed component >30° (based on
prone lateral radiographs), substan-
tial anterior wedging, or posterior
displacement of the vertebrae at the
apex. A thoracolumbosacral orthosis
is worn until the child walks inde-
233
Achondroplasia: Manifestations and Treatment
Figure 5
Preoperative (A) and postoperative (B) lateral radiographs of a patient with
thoracolumbar kyphosis who was treated with posterior spinal fusion.
pendently, the anterior corners of the
vertebrae reconstitute, and the fixed
component of the curve stops im-
proving.
Pauli et al12 reviewed 66 infants
treated with this regimen of early
prohibition of unsupported sitting
and bracing as needed. Of those 66
patients, 20 required bracing (mean
duration, 15 months). The kyphosis
responded to brace treatment in all
patients, with a mean residual ky-
phosis of 8°. No patient developed
progressive kyphosis. This series was
not a prospective, randomized study,
however. Level I or level II evidence
to support bracing in such patients is
still lacking. In addition, there are
other concerns regarding the indica-
tion for bracing. The patient may be
at risk for falls because a large brace
is placed on a small body with poor
trunk control and developmental de-
lay. In addition, braces may have a
detrimental effect on pulmonary
function in children with small tho-
234
racic cages and preexisting respira-
tory dysfunction.
We consider bracing to be an op-
tion for ambulatory patients with
progressive kyphoses and vertebral
wedging. We discuss with the parents
the pros and cons of bracing, along
with the levels of evidence, so that
an informed decision can be made.
When bracing fails to correct the de-
formity, the options are nonsurgical
treatment with the use of hyperex-
tension casts that include the thighs,
or surgical management.
Because the natural history of per-
sistent kyphosis is not well described,
it remains unclear which kyphoses
should be corrected before neuro-
logic symptoms develop. We recom-
mend surgery for kyphoses with neu-
rologic compromise or for kyphoses
>50° because of the risk of progres-
sion to a rigid kyphosis with neuro-
logic compromise. Unless the kypho-
sis is rapidly progressing, surgery is
delayed until age 4 years so that the
Journal of the American Academy of Orthopaedic Surgeons
patient is large enough to allow for
the use of instrumentation.
The traditional approach to the
treatment of kyphosis in the patient
with achondroplasia has been to
minimize correction and avoid poste-
rior instrumentation in most cases
because of the high risk of transient
and permanent neurologic inju-
ries.13,14 In one series of 17 patients
(age range, 3 to 39 years) who un-
derwent surgery for thoracolumbar
kyphosis, the incidence of changes
in somatosensory-evoked potentials
during wire insertion exceeded
50%.14 Mean correction on final ra-
diographs was 20%.
However, more recent studies have
shown the safety and efficacy of instru-
mentation in such patients.15-17 The
current surgical options are posterior
arthrodesis with instrumentation or
combined anterior-posterior arthro-
desis. Anterior arthrodesis is consid-
ered for kyphosis >50° on a pre-
operative hyperextension lateral
radiograph. However, our threshold
for performing an anterior arthrode-
sis has decreased with the increased
rigidity achieved by the placement of
pedicle screws at every level. In addi-
tion, when a preoperative MRI scan
shows severe cord impingement, a
corpectomy is performed. There is
no consensus regarding single- versus
multistage procedures or for postop-
erative cast or brace management.
We described four patients who
underwent a combined two-stage an-
terior and posterior spinal arthrode-
sis with anterior instrumentation.
Correction ranged from 23% to
31%, and there were no complica-
tions.16 Ain and Browne15 reported
on 12 patients (mean age, 12 years;
range, 4 to 21 years) who underwent
posterior spinal arthrodesis with
instrumentation alone (7 patients),
combined AP arthrodesis with poste-
rior instrumentation (2 patients), or
combined AP arthrodesis with ante-
rior instrumentation (3 patients). Pa-

tients in whom no instrumentation
was placed posteriorly underwent re-
peat posterior bone grafting at 4
months after surgery. Patients who
underwent posterior instrumentation
spent 6 months postoperatively in a
brace, whereas those who did not
spent 6 months in a cast. Successful
fusion was obtained in all patients,
and there were no intraoperative or
postoperative neurologic complica-
tions. Mean improvement in the ky-
phosis was 50%. There were three
instrumentation fractures and one
dural leak.
Sarlak et al17 reported the results of
one-stage, two-level (T12 and L1)
posterior column resection, pedicle
screw fixation, and posterior spinal
arthrodesis from T4 to L4 in a 13-
year-old patient with achondroplasia
and 97° of thoracolumbar kyphosis.
Postoperative kyphosis was 32°, and
the 2-year follow-up was uneventful.
Surgical considerations are differ-
ent in the adult with achondroplasia
because there is often coexistent spi-
nal stenosis. Qi et al18 described four
patients (mean age, 32.5 years;
range, 15 to 60 years) with neuro-
logic deficit secondary to thora-
columbar kyphosis. Posterior osteot-
omy with segmental instrumentation
was performed in all four patients.
Pedicle subtraction osteotomy was
performed in two patients without a
hypoplastic apical vertebra, and
spondylectomy with anterior column
reconstruction was performed in two
patients with hypoplastic apical ver-
tebrae. All patients obtained neuro-
logic improvement. The mean preop-
erative kyphosis was 96.3° (range,
57° to 117°), and the mean postoper-
ative kyphosis was 55.3° (range, 30°
to 110°), with a mean correction of
43.6% (range, 6% to 71%).
Lumbosacral Hyperlordosis
In addition to thoracolumbar kypho-
sis, up to 80% of children with achon-
April 2009, Vol 17, No 4
Eric D. Shirley, MD, and Michael C. Ain, MD
droplasia may have lumbosacral Figure 6
hyperlordosis11 (Figure 6). The hy-
perlordosis is the result of excessive
anterior pelvic tilt while standing
and produces a prominent abdomen
and buttocks with hip flexion con-
tractures. Children with achondro-
plasia and spinal stenosis often squat
to obtain symptomatic relief, likely
by decreasing the degree of hyperlor-
dosis, but the exact neurologic signif-
icance of the hyperlordosis is not
clear. Treatment indications for lum-
bosacral hyperlordosis are also
poorly defined.
Nonsurgical management with psoas
stretching has been tried without
success.11 Park et al19 evaluated the
effects of bilateral tibial lengthening
(seven patients) versus femoral and
tibial lengthening (three patients) on
lumbosacral hyperlordosis in pa-
tients who underwent the procedures
for stature augmentation. The au-
thors measured the lumbar lordosis
angle, lumbosacral angle, and sacral
inclination angle (angle between the Clinical photograph of a patient
with lumbar hyperlordosis and
vertical plane line and a line along widespread achondroplastic
the posterior border of the body of changes.
the first and second sacral vertebrae).
Tibial lengthening had no effect on
lumbosacral hyperlordosis. Femoral crease in symptoms of spinal stenosis
lengthening improved the clinical ap- that developed after limb lengthen-
pearance of the hyperlordosis with ing. There were no neurologic com-
decreased prominence of the abdo- plications in the combined femoral
men and buttocks, but the lumbar and tibial lengthening group in
lordosis angle was not changed. which the clinical appearance of the
Femoral lengthening did change the hyperlordosis was improved.
sacral inclination angle, which likely In our own experience, we have not
accounted for the change in clinical noted any marked clinical or radio-
appearance. These authors hypothe- graphic changes in lumbosacral hyper-
sized that the sacral tilt was im- lordosis after limb lengthening, nor
proved by making the osteotomy have we seen any improvement in neu-
proximal to the gluteus maximus in- rologic symptoms. The neurologic con-
sertion, which tightened the muscle sequences of lumbosacral hyperlor-
and resulted in decreased sacral tilt. dosis before and after lengthening
The neurologic outcome after cor- procedures require additional investi-
rection of the lumbosacral hyper- gation.
lordosis is unclear. In the study by
Park et al,19 one patient in the tibial Spinal Stenosis
lengthening group required spinal The endochondral ossification de-
decompression because of an in- fects in achondroplasia result in mul-
235
Achondroplasia: Manifestations and Treatment
Figure 7
T1-weighted coronal (A) and sagittal (B) magnetic resonance imaging scans
demonstrating multilevel spinal stenosis (arrows) in a 19-year-old woman.
tiple morphologic abnormalities of
the entire spinal column, which place
the patient at risk for spinal stenosis
(Figure 7). The vertebral bodies are
shortened and enlarged at the supe-
rior and inferior aspects, and the
pedicles are short and thickened by
30%.20 The interpediculate distance
typically decreases from L1 to L5,
and the pedicle diameter increases in
the same direction.20 In addition, the
intervertebral disks and ligamentum
flavum are hyperplastic. These ab-
normalities result in a 40% reduc-
tion in size of the sagittal and coro-
nal diameters of the spinal canal
from the foramen magnum to the
sacrum, compared with those of
healthy patients.21 The spinal cord
and neural elements are of normal
size.
Symptomatic spinal stenosis in such
individuals usually does not occur un-
til the third or fourth decade, but it may
236
develop before adolescence. The re-
ported incidence of symptomatic spinal
stenosis in patients with achondropla-
sia ranges from 37% to 89%.22
Approximately one fourth of all
patients with achondroplasia require
surgery for spinal stenosis.23 Surgical
indications include progressive symp-
toms, urinary retention, severe clau-
dication (symptoms manifesting after
walking fewer than two city blocks),
and neurologic symptoms at rest.
Lesser degrees of symptoms, includ-
ing pain controlled by activity
modification and anti-inflammatory
medications, can be managed non-
surgically.
Historically, surgical management
of spinal stenosis in the patient with
achondroplasia has been challenging.
Laminectomy alone is not sufficient
for decompression, and the nerve
root recesses on both sides must be
explored because lateral stenosis
Journal of the American Academy of Orthopaedic Surgeons
usually is present. Pyeritz et al24 re-
viewed 22 patients with achondro-
plasia who underwent laminectomy
for spinal stenosis. Only 12 patients
had functional improvement lasting
longer than 5 years, and 11 of the 22
required revision surgery. Because of
the high rate of revision surgery,
these authors suggested that the first
laminectomy should extend three
levels cephalad to the myelographic
block and caudad to at least S2.
Postlaminectomy kyphosis is a com-
mon complication in the skeletally
immature patient but not in the adult
with achondroplasia.24 Ain et al25 re-
viewed 10 consecutive skeletally im-
mature patients with achondroplasia
who underwent surgical treatment of
symptomatic spinal stenosis during a
10-year period. The average patient
age was 9.2 years (range, 6 to 16
years), and the mean preoperative
kyphosis was 31° (range, 10° to 50°)
(Figure 8, A). All patients underwent
five- to eight-level thoracolumbar
laminectomies. Despite preservation
of >50% of each medial facet, post-
laminectomy thoracolumbar kypho-
ses (mean, 94°; range, 78° to 135°)
developed in all patients (Figure 8,
B). In addition, all patients required
secondary arthrodesis to address the
kyphoses 10 months to 2.6 years
after the initial surgery (Figure 8, C).
Because of the high risk of develop-
ing a postlaminectomy kyphosis,
these authors recommended con-
current spinal arthrodesis in the
skeletally immature patient with
achondroplasia who is undergoing
thoracolumbar laminectomy of at
least five levels.25
Spinal Instrumentation in the
Patient With Achondroplasia
Because of the presence of a nar-
rowed spinal canal, the use of instru-
mentation that enters the canal (eg,
wires, laminar hooks) is contraindi-
cated in patients with achondropla-
sia. The use of fixation devices such

Figure 8
Lateral radiographs taken before (A) and after (B) decompression, demonstrating alignment (22° and 88°, respectively)
in a 14-year-old boy. C, Lateral radiograph demonstrating pedicle screw instrumentation to correct the postlaminectomy
kyphosis. (Reproduced with permission from Ain MC, Shirley ED, Pirouzmanesh A, Hariri A, Carson BS:
Postlaminectomy kyphosis in the skeletally immature achondroplast. Spine 2006;31:197-201.)
as pedicle screws, which do not enter
the spinal canal, is favored. How-
ever, pedicle screw instrumentation
in patients with achondroplasia and
other patients with short stature
can be challenging. Safe insertion
requires technical experience and
knowledge of the achondroplastic
pedicle morphometry, which differs
markedly from that of the normal
spine.
The pedicles are directed cranially
at all levels. Average pedicle lengths
are nearly 10 mm shorter than in
persons who do not have achondro-
plasia.26 Screws 20 to 25 mm in
length can be used for lower thoracic
and lumbar pedicles in most adults
with achondroplasia. Compared
with the normal spine, the achondro-
plastic transverse pedicle diameter is
similar and the sagittal diameter is
smaller.26 Screw diameters of 5 to 7
mm are safe in most adult patients
with achondroplasia.
April 2009, Vol 17, No 4
Eric D. Shirley, MD, and Michael C. Ain, MD
Upper Extremity Figure 9
Manifestations
The upper extremity in the patient
with achondroplasia is characterized
by rhizomelic shortening secondary
to short humeri. The fingertips reach
only to the tops of the greater tro-
chanters. This rhizomelic shortening
can create disability because of diffi-
culty in reaching the top of the head
and the perineum for hygiene care.4
Disability from shortness of the
upper limbs may be exacerbated by
flexion contractures of the elbows. Clinical photograph of a trident
hand in an infant with
The flexion contractures likely are achondroplasia.
the result of flexion deformities of
the distal humerus. In addition, sub-
three groups and giving the hand a
luxation of the radial heads may be
trident appearance (Figure 9).
present. Typically, elbow abnormali-
ties do not require treatment because
functional limitations usually are ab- Genu Varum
sent. Characteristically, there is an
extra space between the third and Genu varum is a clinical hallmark
fourth rays, separating the digits into of achondroplasia3 (Figure 10). The
237
Achondroplasia: Manifestations and Treatment
Figure 10
Anteroposterior radiograph of a
patient with genu varum.
malalignment may be asymptomatic
or may be associated with pain, neu-
rologic symptoms, knee instability,
limitation of knee joint function,
waddling gait, malalignment of
stance, or lateral gapping of the knee
when standing.
The cause of genu varum in achon-
droplasia remains controversial. Hy-
potheses include lateral collateral lig-
ament laxity and fibular overgrowth
because the fibula nearly always is
longer than the tibia in patients with
achondroplasia. Stanley et al27 pro-
posed that the cause was age-
dependent, secondary to overgrowth
of the proximal fibula combined
with lateral collateral ligament laxity
in patients aged 2 to 6 years and sec-
ondary to overgrowth of the distal
fibula in patients aged 8 to 11 years.
Ain et al28 reviewed the radiographs
of 48 children with achondroplasia
and found that the distances from
the proximal and distal ends of the
238
fibula to the knee and ankle joints
were not associated with the align-
ment of the lower extremity, con-
cluding that fibular overgrowth did
not correlate with the severity of the
genu varum.
Lee et al29 also investigated the re-
lation of fibular overgrowth to the
development of genu varum by mea-
suring the standing radiographs of
30 skeletally immature and 23 skele-
tally mature patients. Using different
parameters from those of Ain et al,28
the authors found that the fibula-to-
tibia length ratio correlated with the
medial proximal tibia angle and me-
chanical axis deviation in skeletally
immature patients but not in skele-
tally mature patients.
The management of genu varum in
patients with achondroplasia has var-
ied. Treatment indications are dif-
ficult to define clearly because there
are no natural history studies show-
ing which degree of deformity causes
joint degeneration in patients with
achondroplasia. Bracing has been
tried without success. In general, sur-
gical indications are to correct symp-
tomatic deformity, fibular thrust, or
severe malalignment. Tibial osteot-
omy with or without femoral osteot-
omy (opening or closing wedge, with
internal or external fixation) can cor-
rect the deformity reliably. Concur-
rent tibial torsion must be addressed
at the time of surgery. The lower ex-
tremity rotational profiles are charac-
terized by persistently decreased ex-
ternal tibial torsion and the lack of a
normal decrease in femoral antever-
sion during growth.30 Procedures
that address the fibula alone, includ-
ing partial excisional osteotomy and
fibular epiphysiodesis, have been ad-
vocated,29 but their efficacy has not
been established. Until such effi-
ciency has been documented, we be-
lieve that surgery should be directed
at the site of the tibial and/or femo-
ral deformity.
Journal of the American Academy of Orthopaedic Surgeons
Short Stature and Elective
Limb Lengthening
The infant with achondroplasia is
shorter than unaffected infants; this
height deficit increases markedly in
the first years of life. On average, the
length differential is −1.5 SD at
birth, −3.2 SD at 6 months, −4.4 SD
at 1 year, and −5.0 at 2 years.31 This
last rate remains constant until pu-
berty, at which time additional loss
in height occurs. The average height
in the adult with achondroplasia is
132 cm (range, 118 to 145 cm [52,
46.5, and 57 inches, respectively])
for men and 125 cm (range, 112 to
136 cm [49, 44, and 53.5 inches, re-
spectively]) for women,31 which cor-
responds to a height 6 to 7 SD below
the average for unaffected individu-
als.
Paley et al32 calculated total height
multipliers from two separate data-
bases by dividing height at maturity
by height at each respective age for
both sexes. Lower limb and total
height growth rates were slower than
those in healthy persons. Sitting
height multipliers were closely re-
lated to those for healthy persons.
Growth charts for the height, weight,
and head circumference developed
specifically for children with achon-
droplasia may be used to predict
adult height.31 Alternatively, final
height may be predicted with the
multiplier method, although the ac-
curacy of these predictions remains
to be validated.32
The decision to augment stature is
difficult and controversial. Impair-
ments as a result of short stature in-
clude conducting business at coun-
tertops, face washing, hair combing,
using a public restroom, playing
sports, and engaging in hobbies in-
volving physical activity. Other diffi-
culties may be associated with social
and emotional relationships. How-
ever, a functional benefit in these im-

pairments after elective limb length-
ening has not been established.
Kanazawa et al33 showed a statisti-
cally significant effect on height gain
from growth hormone (GH) therapy
over a 1-year period; GH therapy in-
creased annual height gain from 3.9
± 1.2 cm/yr (1.53 ± 0.47 inches) to
7.2 ± 1.4 cm/yr (2.83 ± 0.55 inches)
(P < 0.05). In a 5-year GH treatment
study, with 1 year without treatment,
Hertel et al34 showed that GH treat-
ment improved height without ad-
verse effects on trunk-leg dispropor-
tion. The advantages of gaining 6 to
8 cm (2.4 to 3.1 inches) in height
needs to be weighed against the in-
convenience of nearly 5 years of
daily injections.
Surgical lengthening may achieve
greater increases in height. How-
ever, surgical lengthening is a time-
consuming process. At some centers,
lengthening is performed at two sepa-
rate time periods. The first lengthening
typically occurs at approximately age
7 years and the second at approxi-
mately age 12 years. The total duration
for surgery and postoperative therapy
may be up to 3 years. Other centers pre-
fer to delay lengthening until early
adolescence to increase the patient’s par-
ticipation with the rehabilitation pro-
cess. Complications during rehabilita-
tion may require that the lengthening
stops short of the desired goal. The psy-
chological impact on the child when
lengthening is stopped short of the
stated goal cannot be underestimated.
Surgical limb lengthening is a
complicated endeavor. Aldegheri and
Dall’Oca35 reviewed 140 patients
with short stature (including 80 with
achondroplasia) who underwent sur-
gical lower limb (femur or tibia)
lengthening. The average gain in leg
length was 20.5 ± 4.7 cm (8.1 ± 1.9
inches), and the average treatment
time was 31 months (range, 18 to 40
months). Ten patients also under-
went upper extremity (humerus)
lengthening. The average gain in arm
April 2009, Vol 17, No 4
length was 10.2 ± 1.25 cm (4.0 ± 0.5
inches) (range, 8 to 12 cm [3.2 to 4.7
inches]); treatment time averaged 9
months, and there were no complica-
tions.
Complications of surgical limb
lengthening can be substantial. In the
series by Aldegheri and Dall’Oca,35
43% of patients who underwent
limb lengthening had complications,
including fractures, early consolida-
tion, failed union, malalignment,
joint stiffness, and infection. There is
anecdotal evidence and at least one
report in the literature of increased
symptoms of lumbar spinal stenosis
after limb lengthening, requiring
lumbar decompression.19 The effect
of limb lengthening on spinal steno-
sis needs additional investigation.
Medical Complications
Impairment from achondroplasia is
not limited to the musculoskeletal
system. Hydrocephalus may occur
during the newborn and infantile pe-
riod.36 Because children with achon-
droplasia have relatively large heads
and frontal bossing, diagnosis may
be difficult. Diagnosis is made by
closely monitoring the head circum-
ference and motor development and
by comparing those measurements
with standard achondroplastic data.
Ventricular shunting is required in
approximately 5% of patients.23
Otolaryngeal problems also are prev-
alent: 90% of patients with achondro-
plasia experience otitis media before age
2 years, and half require placement of
tympanostomy tubes.23 Relative ade-
notonsillar hypertrophy secondary to
midface hypoplasia can cause ob-
structive sleep apnea. Otitis media
and adenotonsillar hypertrophy may
result in conductive hearing loss that
can impair speech development.
These problems may lead to disabili-
ties in communication and learning.
Children with achondroplasia meet
Eric D. Shirley, MD, and Michael C. Ain, MD
developmental milestones later than
do those of average stature. The av-
erage age at which unaided walking
is achieved is 17 months, in contrast
to 12 to 16 months for unaffected
children. The cause of the develop-
mental delay is not clear, although
foramen magnum stenosis must be
ruled out. Cognitive development is
normal.
Maintaining an ideal body weight is
a continuous challenge for many indi-
viduals with achondroplasia, and obe-
sity is more common than in the gen-
eral population.9 Weight-for-height
and weight-for-age curves used for
the general population are not appli-
cable in determining ideal weight,
but triceps skin-fold thickness mea-
surement can be helpful. Sports par-
ticipation, especially swimming and
biking, should be encouraged. The
child should avoid gymnastics and
collision sports because of the poten-
tial for neurologic complications sec-
ondary to cervical stenosis.9
Patients with achondroplasia are
very healthy compared with patients
with other dysplasias, but mortality
rates in all age groups are higher
than those in the general population
because of sudden death in young in-
fants, central nervous system and
respiratory problems in older chil-
dren, and cardiovascular problems in
young adults.37
Quality of Life
The quality of life experienced by the
patient with achondroplasia reflects the
social challenges experienced by pa-
tients of short stature. In one quality-
of-life study, these individuals were
found to have lower annual income and
less education and were less likely to be
married than were unaffected indi-
viduals.38 Patients with achondropla-
sia also had significantly lower self-
esteem values and significantly lower
quality-of-life indices across four
239
Achondroplasia: Manifestations and Treatment
subdomains: health and functioning,
social and economic, psychological
and spiritual, and family.38
Summary
Achondroplasia is the most common
skeletal dysplasia. Manifestations are
seen in the spine, the upper and lower
extremities, and the otolaryngeal sys-
tem. Foramen magnum stenosis may
become symptomatic in the first 2 years
of life and require decompression. Al-
though thoracolumbar kyphosis typi-
cally resolves, surgery may be necessary
for spinal stenosis. Genu varum may re-
quire corrective osteotomy. The indica-
tions and outcomes of limb lengthen-
ing for patients with achondroplasia
remain controversial. Because the man-
ifestations appear in multiple locations,
pediatricians and orthopaedic surgeons
from multiple specialties need to take
part in providing care for the patient
with achondroplasia.
References
Evidence-based Medicine: Reference 34
is a level II randomized control study,
and reference 19 is a level III case-
control study. Most of the other refer-
ences presented are level IV case series
(10, 12, 14-18, 21, 24, 25, 27-29, 33,
and 35), level V expert opinion series
(11 and 13), or cadaveric, biomechan-
ical, and anatomic studies.
Citation numbers printed in bold type
indicate references published within the
past 5 years.
1. Oberklaid F, Danks DM, Jensen F, Stace
L, Rosshandler S: Achondroplasia and
hypochondroplasia: Comments on
frequency, mutation rate, and
radiological features in skull and spine.
J Med Genet 1979;16:140-146.
2. Parrot MJ: Sur la malformation
achondroplasique et le Dieu Phtah. Bull
Soc Anthropol 1878;1:296-308.
3. Bailey JA II : Orthopaedic aspects of
achondroplasia. J Bone Joint Surg Am
1970;52:1285-1301.
240
4. Kopits SE: Orthopedic complications of
dwarfism. Clin Orthop Relat Res 1976;
114:153-179.
5. Rousseau F, Bonaventure J, Legeai-
Mallet L, et al: Mutations in the gene
encoding fibroblast growth factor
receptor-3 in achondroplasia. Nature
1994;371:252-254.
6. Horton WA: Recent milestones in
achondroplasia research. Am J Med
Genet A 2006;140:166-169.
7. Webster MK, Donoghue DJ: Constitutive
activation of fibroblast growth factor
receptor 3 by the transmembrane
domain point mutation found in
achondroplasia. EMBO J 1996;15:520-
527.
8. Unger S: A genetic approach to the
diagnosis of skeletal dysplasia. Clin
Orthop Relat Res 2002;401:32-38.
9. Trotter TL, Hall JG, American Academy
of Pediatrics Committee on Genetics:
Health supervision for children with
achondroplasia. Pediatrics 2005;116:
771-783.
10. Bagley CA, Pindrik JA, Bookland MJ,
Camara-Quintana JQ, Carson BS:
Cervicomedullary decompression for
foramen magnum stenosis in
achondroplasia. J Neurosurg 2006;104(3
suppl):166-172.
11. Kopits SE: Thoracolumbar kyphosis and
lumbosacral hyperlordosis in
achondroplastic children. Basic Life Sci
1988;48:241-255.
12. Pauli RM, Breed A, Horton VK, Glinski
LP, Reiser CA: Prevention of fixed,
angular kyphosis in achondroplasia.
J Pediatr Orthop 1997;17:726-733.
13. Lonstein JE: Treatment of kyphosis and
lumbar stenosis in achondroplasia. Basic
Life Sci 1988;48:283-292.
14. Tolo VT: Surgical treatment of kyphosis
in achondroplasia. Basic Life Sci 1988;
48:257-259.
15. Ain MC, Browne JA: Spinal arthrodesis
with instrumentation for thoracolumbar
kyphosis in pediatric achondroplasia.
Spine 2004;29:2075-2080.
16. Ain MC, Shirley ED: Spinal fusion for
kyphosis in achondroplasia. J Pediatr
Orthop 2004;24:541-545.
17. Sarlak AY, Buluç L, Anik Y, Memişoğlu
K, Kurtgöz B: Treatment of fixed
thoracolumbar kyphosis in immature
achondroplastic patient: Posterior
column resection combined with
segmental pedicle screw fixation and
posterolateral fusion. Eur Spine J 2004;
13:458-461.
18. Qi X, Matsumoto M, Ishii K, Nakamura
M, Chiba K, Toyama Y: Posterior
osteotomy and instrumentation for
Journal of the American Academy of Orthopaedic Surgeons
thoracolumbar kyphosis in patients with
achondroplasia. Spine 2006;31:E606-
E610.
19. Park HW, Kim HS, Hahn SB, et al:
Correction of lumbosacral hyperlordosis
in achondroplasia. Clin Orthop Relat
Res 2003;414:242-249.
20. Lutter LD, Longstein JE, Winter RB,
Langer LO: Anatomy of the
achondroplastic lumbar canal. Clin
Orthop Relat Res 1977;126:139-142.
21. Lutter LD, Langer LO: Neurological
symptoms in achondroplastic dwarfs:
Surgical treatment. J Bone Joint Surg Am
1977;59:87-92.
22. Bethem D, Winter RB, Lutter L, et al:
Spinal disorders of dwarfism: Review of
the literature and report of eighty cases.
J Bone Joint Surg Am 1981;63:1412-
1425.
23. Hunter AG, Bankier A, Rogers JG,
Sillence D, Scott CI Jr: Medical
complications of achondroplasia: A
multicentre patient review. J Med Genet
1998;35:705-712.
24. Pyeritz RE, Sack GH Jr, Udvarhelyi GB:
Thoracolumbosacral laminectomy in
achondroplasia: Long-term results in 22
patients. Am J Med Genet 1987;28:433-
444.
25. Ain MC, Shirley ED, Pirouzmanesh A,
Hariri A, Carson BS: Postlaminectomy
kyphosis in the skeletally immature
achondroplast. Spine 2006;31:197-201.
26. Srikumaran U, Woodard EJ, Leet AI,
Rigamonti D, Sponseller PD, Ain MC:
Pedicle and spinal canal parameters of
the lower thoracic and lumbar vertebrae
in the achondroplast population. Spine
2007;32:2423-2431.
27. Stanley G, McLoughlin S, Beals RK:
Observations on the cause of bowlegs in
achondroplasia. J Pediatr Orthop 2002;
22:112-116.
28. Ain MC, Shirley ED, Pirouzmanesh A,
Skolasky RL, Leet AI: Genu varum in
achondroplasia. J Pediatr Orthop 2006;
26:375-379.
29. Lee ST, Song HR, Mahajan R, Makwana
V, Suh SW, Lee SH: Development of
genu varum in achondroplasia: Relation
to fibular overgrowth. J Bone Joint Surg
Br 2007;89:57-61.
30. Song HR, Choonia AT, Hong SJ, et al:
Rotational profile of the lower extremity
in achondroplasia: Computed
tomographic examination of 25 patients.
Skeletal Radiol 2006;35:929-934.
31. Horton WA, Rotter JI, Rimoin DL, Scott
CI, Hall JG: Standard growth curves for
achondroplasia. J Pediatr 1978;93:435-
438.
32. Paley D, Matz AL, Kurland DB, Lamm

BM, Herzenberg JE: Multiplier method
for prediction of adult height in patients
with achondroplasia. J Pediatr Orthop
2005;25:539-542.
33. Kanazawa H, Tanaka H, Inoue M,
Yamanaka Y, Namba N, Seino Y:
Efficacy of growth hormone therapy for
patients with skeletal dysplasia. J Bone
Miner Metab 2003;21:307-310.
April 2009, Vol 17, No 4
34. Hertel NT, Eklöf O, Ivarsson S, et al:
Growth hormone treatment in 35
prepubertal children with
achondroplasia: A five-year dose-
response trial. Acta Paediatr 2005;94:
1402-1410.
35. Aldegheri R, Dall’Oca C: Limb
lengthening in short stature patients.
J Pediatr Orthop B 2001;10:238-247.
Eric D. Shirley, MD, and Michael C. Ain, MD
36. Haga N: Management of disabilities
associated with achondroplasia.
J Orthop Sci 2004;9:103-107.
37. Hecht JT, Francomano CA, Horton WA,
Annegers JF: Mortality in
achondroplasia. Am J Hum Genet 1987;
41:454-464.
38. Gollust SE, Thompson RE, Gooding HC,
Biesecker BB: Living with
achondroplasia in an average-sized
world: An assessment of quality of life.
Am J Med Genet A 2003;120A:447-458.
241