ARTICLE

Hypermobility Syndrome
David B. Everman, MD* and Nathaniel H. Robin, MD*†

ing late childhood or early adoles-

IMPORTANT POINTS cence and more slowly through
1. Generalized joint hypermobility is a common clinical finding; adulthood. The age-related decline
its prevalence varies with age, gender, and ethnicity. in joint mobility has been attributed
2. Screening for the presence of generalized hypermobility is accom- to progressive biochemical changes
plished easily and rapidly by using five clinical maneuvers and in collagen structure that result in
the Beighton scoring system. stiffening of the connective tissue
3. Hypermobility syndrome should be considered in the differential components of joints. At any given
diagnosis of children who have musculoskeletal complaints. age, females have a greater degree
4. Hypermobility syndrome is a diagnosis of exclusion, and the finding of joint laxity. Hypermobility also
of generalized hypermobility on physical examination should prompt varies dramatically among ethnic
consideration of serious disorders of connective tissue. groups, occurring more commonly
5. Treatment of hypermobility syndrome includes nonsteroidal anti- in persons of African, Asian, and
inflammatory drug administration and counseling about the benign Middle Eastern descent. Within
nature of the condition and the relationship of symptoms to joint
these ethnic groups, the pattern of
activity.
age- and gender-related variation
is maintained.
Researchers investigating the
prevalence of hypermobility syn-
Definitions Hypermobility syndrome is the drome often have examined patients
Hypermobility is defined as an term used to describe otherwise in rheumatology clinics, where they
abnormally increased range of joint healthy individuals who exhibit gen- are referred for evaluation of muscu-
motion due to excessive laxity of the eralized hypermobility associated loskeletal complaints. Systematic
constraining soft tissues. Although it with musculoskeletal complaints. examination of these individuals
usually is a benign clinical finding The term was coined in 1967 by for evidence of generalized hyper-
that has few serious implications, Kirk and colleagues, who reported mobility in the absence of systemic
it should raise the clinician’s level the occurrence of rheumatic symp- disease has yielded prevalence fig-
of concern for the presence of an toms in a group of hypermobile chil- ures for hypermobility syndrome of
underlying disorder, particularly one dren who had no connective tissue 2% to 5%, with a relative predomi-
involving the connective tissue. In disorders or other forms of systemic nance of young girls. As with gener-
addition, its association with joint disease. Some clinicians prefer the alized hypermobility, these figures
symptoms makes hypermobility term benign joint hypermobility probably underestimate the true
an important clinical finding in syndrome to distinguish affected prevalence of the syndrome because
children who have musculoskeletal individuals from those manifesting many individuals do not seek med-
complaints. hypermobility as part of a more seri- ical evaluation for mild and inter-
In theory, the distinction between ous disorder. Because hypermobility mittent musculoskeletal symptoms.
hypermobility and the upper limit of syndrome has a strong genetic com- In the subset of patients who have
normal mobility is arbitrary because ponent, it also has been called famil- episodic and unexplained joint pain,
joint motion varies within the gen- ial joint hypermobility. the prevalence of hypermobility syn-
eral population. In practice, how- drome may be significantly higher.
ever, it is not difficult to distinguish Gedalia and colleagues found gener-
hypermobility from the generally Epidemiology and Etiology alized hypermobility in 66% of
accepted clinical norm in the major- Generalized hypermobility in the school children who had recurrent
ity of children. Hypermobility may absence of systemic disease is a arthritis or arthralgia of unknown
be localized, involving one or sev- common condition that has a preva- etiology. Although arthritis usually
eral joints, or generalized, involving lence of 4% to 13% in the general is not considered a feature of hyper-
a number of joints throughout the population. This probably is an mobility syndrome, these data sug-
body. Although excessive joint laxity underestimate of the true frequency gest an increased prevalence of this
is a prominent feature of many because many people who have condition in children who present
systemic disorders, it occurs more hypermobility do not develop joint with intermittent musculoskeletal
commonly in isolation. symptoms or seek medical attention. complaints.
Moreover, the prevalence of hyper- The primary conditions that can
mobility varies markedly with age, involve hypermobility are listed in
*Center for Human Genetics, Department of
Genetics.
gender, and ethnicity of the study Table 1. Generalized hypermobility
†Department of Pediatrics, Case Western
population. It is well known that is a prominent feature of hereditary
Reserve University School of Medicine, children have relatively loose joints connective tissue disorders, includ-
University Hospitals of Cleveland, compared with adults; this normal ing Marfan syndrome, Ehlers-Danlos
Cleveland, OH. joint laxity diminishes rapidly dur- syndrome, and osteogenesis imper-

Pediatrics in Review Vol. 19 No. 4 April 1998 111

Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019

 MUSCULOSKELETAL
Hypermobility
TABLE 1. Select Conditions Featuring Hypermobility
• Hypermobility syndrome
• Hereditary connective tissue disorders
— Marfan syndrome
— Ehlers-Danlos syndrome
— Osteogenesis imperfecta
— Marfanoid hypermobility syndrome
— Williams syndrome
— Stickler syndrome
• Chromosome disorders
— Down syndrome
— Killian/Teschler-Nicola syndrome
• Other genetic syndromes
— Autosomal dominant
– Velo-cardio-facial syndrome
– Hajdu-Cheney syndrome
– Pseudoachondroplastic spondyloepiphyseal dysplasia
– Myotonia congenita
— Autosomal recessive
– Cohen syndrome
— Heterogeneous (autosomal dominant or autosomal recessive)
– Larsen syndrome
– Pseudoxanthoma elasticum
— X-linked dominant
– Coffin-Lowry syndrome
— Sporadic
– Goltz syndrome
• Metabolic disorders
— Homocystinuria
— Hyperlysinemia
• Orthopedic conditions
— Congenital hip dysplasia
— Recurrent dislocation of shoulder
— Recurrent dislocation of patella
— Clubfoot
• Acquired diseases
— Neurologic
– Polio
– Tabes dorsalis
— Rheumatologic
– Juvenile rheumatoid arthritis
– Rheumatic fever
• Familial asymptomatic hypermobility (contortionists)
• Apparent hypermobility (muscular hypotonia)
fecta. In the marfanoid hypermobil-
ity syndrome, generalized hypermo-
bility is present in combination with
the typical skeletal manifestations
and skin hyperelasticity of Marfan
syndrome, but the ocular and cardio-
vascular manifestations are absent.
Hypermobility often is found in
metabolic diseases such as homo-
cystinuria and hyperlysinemia, chro-
mosomal disorders such as Down
syndrome, and a variety of familial
112
Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019
and sporadic genetic syndromes.
Joint laxity may be associated with
orthopedic abnormalities, including
congenital hip dysplasia and recur-
rent dislocations of the shoulder
and patella. Hypermobility may be
acquired in neurologic conditions,
such as polio and tabes dorsalis, and
in rheumatologic diseases. Although
hypermobility can develop in juve-
nile rheumatoid arthritis, limitation
of joint motion is much more likely.
Pediatrics in Review
Familial asymptomatic hypermobil-
ity is a term used to describe contor-
tionists, who demonstrate significant
generalized joint laxity but do not
develop joint symptoms. Finally, it
is important to distinguish true joint
hypermobility from apparent hyper-
mobility, which occurs in the con-
text of muscular hypotonia.
Although the precise etiology of
hypermobility syndrome is unknown,
it clearly has a strong genetic com-
ponent. Affected first-degree rela-
tives are identified in as many as
50% of cases. An autosomal domi-
nant pattern of inheritance is most
common, although autosomal reces-
sive and X-linked transmission also
have been documented.
The predominance of affected
females who have hypermobility
syndrome has fueled speculation
about the role of gender-related
factors in the development and
expression of the condition. Some
clinicians have observed phenotypic
differences, including variations in
location, nature, and severity of joint
symptoms, between affected males
and females from the same family.
The relative contribution of environ-
mental influences, such as estrogen,
or X-linked genetic factors is not
understood.
Pathogenesis
There are questions about whether
hypermobility syndrome represents
the upper end of normal variation in
joint mobility or it reflects a mild
disorder of connective tissue. In
support of the latter view, stigmata
of generalized connective tissue
involvement, including marfanoid
habitus, high-arched palate, skin
striae, hyperelastic or thin skin, vari-
cose veins, and spinal abnormalities,
have been observed in some patients
who have hypermobility syndrome.
Additional studies have documented
an increased incidence of mitral
valve prolapse in hypermobile indi-
viduals, but this association has
been controversial.
Biochemical and molecular
research has supported the classifi-
cation of hypermobility syndrome as
a connective tissue disorder. Colla-
gen analysis of skin samples from
patients who have hypermobility
syndrome has demonstrated alter-
Vol. 19 No. 4 April 1998

ations in the normal ratios of colla-
gen subtypes and abnormalities of
the microscopic connective tissue
structure. In 1996, the British
Society for Rheumatology reported
the identification of mutations in
fibrillin genes in several families
who had hypermobility syndrome.
Despite intensive speculation, the
pathogenesis of generalized joint
laxity in hypermobility syndrome
remains unclear. It appears likely
that normal joint development and
function require the interaction of
a number of genes coding for the
structure and assembly of joint-
related connective tissue proteins.
Although hypermobility syndrome
may result from one or more muta-
tions in such genes, the importance
of pathogenetic classification is a
problem of semantics rather than
a clinically relevant issue for the
general pediatrician.
The pathogenesis of joint com-
plaints in patients who have hyper-
mobility syndrome may be under-
stood best by considering the basic
structure of a joint. The extent of
joint mobility is determined by the
strength and flexibility of surround-
ing soft tissues, including the joint
capsule, ligaments, tendons, mus-
cles, subcutaneous tissue, and skin.
It has been hypothesized that exces-
sive joint laxity leads to inappropri-
ate wear and tear on joint surfaces
and surrounding soft tissues, result-
ing in symptoms referable to these
tissues. The clinical observation
of increased symptoms related to
excessive use of hypermobile joints
lends further support to this hypoth-
esis. Recent studies also have demon-
strated reduced proprioceptive sen-
sation in the joints of patients who
have hypermobility syndrome. Such
findings have led to speculation that
impaired sensory feedback con-
tributes to excessive joint trauma
in affected individuals.
Clinical Manifestations
Children who have hypermobility
syndrome may present with a vari-
ety of musculoskeletal complaints.
The most common symptom is joint
pain, which often develops after
physical activities or sports during
which the affected joint(s) is/are
used repeatedly. Pain may be local-
Pediatrics in Review Vol. 19 No. 4
Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019
ized in one or several joints or it
may be generalized and symmetric.
Although pain most commonly
involves the knee, any joint, includ-
ing those of the spine, can be
affected. The pain usually is self-
limited in duration, but it can recur
with activity. Less commonly, chil-
dren may experience joint stiffness,
myalgias, muscle cramps, and
nonarticular limb pain. Although
brief episodes of joint swelling can
occur in hypermobility syndrome,
they are uncommon and should
prompt consideration of an alterna-
tive diagnosis. In some cases, the
onset of symptoms is preceded by
a recent growth spurt, and affected
females often report premenstrual
exacerbations. Because symptoms
typically are related to activity, they
tend to occur later in the day. In
contrast to arthritic disorders, morn-
ing stiffness is an uncommon find-
ing in children who have hypermo-
bility syndrome. Instead, they may
awaken at night with complaints of
joint or extremity pain, especially
following an active day. Frequently,
affected children will have a family
history of similar complaints or
“double-jointedness” in childhood
among first-degree relatives. In
addition to relatively nonspecific
musculoskeletal complaints, some
patients may have an associated
history of congenital hip dysplasia,
recurrent joint dislocations or
subluxations, ligament or tendon
rupture, easy bruising, fibromy-
algia, or temporomandibular joint
dysfunction.
In addition to the primary finding illustrating that hypermobility syn-
of generalized joint hypermobility,
physical examination may reveal
pain upon joint manipu-
lation and, in unusual
cases, mild degrees of
effusion. Signs of active
inflammation, including
significant tenderness,
swelling, redness,
warmth, and fever, are
absent. If such findings
are present, they sug-
gest another diagnosis.
Examination of
patients who have
hypermobility syn-
drome also may reveal
extra-articular abnor- FIGURE 1. Assessing generalized joint laxity: passive
malities that are more apposition of the thumb to the flexor surface of the
typical of serious con- forearm.
April 1998
MUSCULOSKELETAL
Hypermobility
nective tissue disorders. Such find-
ings can include pes planus, scolio-
sis, lordosis, genu valgum, lateral
patellar displacement, marfanoid
habitus, high-arched palate, skin
striae, thin skin, and varicose veins.
Although most affected children
do not have cardiovascular findings,
a subset of patients may have evi-
dence of mitral valve prolapse
(MVP). As noted previously, the
association of MVP with hyper-
mobility syndrome is controversial.
Although early studies indicated an
increased incidence of MVP in
affected patients, more recent inves-
tigations that used stricter echocar-
diographic criteria for the diagnosis
of MVP have questioned this associ-
ation. However, serious cardiovascu-
lar abnormalities are seen with some
connective tissue disorders that also
manifest hypermobility. For this
reason, any hypermobile child who
has suspicious cardiac symptoms or
physical findings requires further
evaluation by a cardiologist.
Diagnosis
The key to making the diagnosis
of hypermobility syndrome lies in
accurate assessment of the child for
evidence of generalized joint laxity.
This is accomplished with five sim-
ple clinical maneuvers that require
no special equipment and can be
performed by any general physician
in 30 to 60 seconds (Figs. 1–5). The
father of the 3-year-old girl shown
in the figures is similarly affected,
drome can be seen at any age. It
should be noted that joint laxity in
113
 MUSCULOSKELETAL
Hypermobility
FIGURE 2. Assessing generalized joint laxity: passive dorsi-
flexion of the fifth finger beyond 90 degrees (in parallel to the
extensor surface of the forearm).
FIGURE 4. Assessing generalized joint
laxity: hyperextension of the knee
beyond 10 degrees.
patients who have hypermobility
syndrome is virtually always sym-
metric, except in the presence of
other musculoskeletal abnormalities
that might limit joint motion. In
addition, some consider hyperexten-
sion of all fingers, not just the fifth
finger, as the physical finding to
examine in hypermobility syndrome.
Developed by Carter and Wilkin-
son and later modified by Beighton
for large population studies, this
examination has become the most
widely accepted screen for detecting
generalized hypermobility. It corre-
lates well with more quantitative,
instrument-dependent methods.
114
Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019
FIGURE 3. Assessing generalized joint laxity: hyperextension
of the elbow beyond 10 degrees.
toms, a number of less
commonly associated
features have been
incorporated into these
criteria.
Although hyper-
mobility syndrome is a
relatively common con-
dition, it is a diagnosis
of exclusion. Exclusion
of more serious infec-
tious, inflammatory, and
autoimmune disorders
presenting with painful
or swollen joints can
be aided by appropriate
laboratory studies,
including complete
blood count, erythro-
cyte sedimentation rate
(ESR), rheumatoid
FIGURE 5. Assessing generalized joint laxity: forward factor, antinuclear anti-
flexion of the trunk, with the knees held straight, such body (ANA) titer, and
that the palms of the hands rest flat on the floor.
levels of serum immune
globulin and comple-
Patients are scored on a 9-point ment. Such tests usually are not
scale, with 1 point awarded for indicated in children who have
each hypermobile site. The points hypermobility syndrome, and results
then are summed to give a total are normal when the tests are per-
or “Beighton score” (Fig. 6). A formed. Abnormalities in any of
Beighton score of 4 or more points these tests, such as leukocytosis,
usually is considered indicative increased ESR, or a positive ANA
of generalized hypermobility. titer, suggest an alternative diagno-
Because there is considerable sis. If there is joint effusion, aspira-
clinical overlap between hypermo- tion of the joint fluid will reveal a
bility syndrome and heritable dis- noninflammatory pattern in patients
orders of connective tissue, specific who have hypermobility syndrome.
diagnostic criteria have been devel-
oped by the British Society for
Rheumatology (Table 2). In addition Differential Diagnosis
to findings of generalized hyper- As outlined in Table 1, the differ-
mobility and musculoskeletal symp- ential diagnosis of hypermobility
Pediatrics in Review Vol. 19 No. 4 April 1998
 MUSCULOSKELETAL
Hypermobility

connective tissue disease. For these

UNABLE TO ABLE TO reasons, it is critical for the clinician
PERFORM PERFORM
CLINICAL MANEUVER (0 POINTS) (1 POINT)
to recognize the distinguishing fea-
tures of inherited connective tissue
Apposition of thumb to forearm disorders in hypermobile children.
Right 0 1
Left 0 1
EHLERS-DANLOS SYNDROME
Extension of fifth finger beyond 90 degrees Ehlers-Danlos syndrome (EDS)
Right 0 1 refers to a group of connective
Left 0 1
tissue disorders that shares the fea-
Extension of elbow beyond 10 degrees tures of joint hypermobility and
Right 0 1 skin abnormalities. The skin find-
Left 0 1 ings may range from softness, thin-
Extension of knee beyond 10 degrees ness, or hyperelasticity to extreme
Right 0 1 fragility with easy bruisability and
Left 0 1 abnormal scar formation. There are
ten subtypes of EDS, which differ
Forward flexion of trunk, legs straight,
palms touching floor 0 1
in terms of severity of joint and
skin findings, involvement of other
Total Beighton Score (sum of points 0 to 9 points tissues, and mode of inheritance.
for each maneuver) Specific molecular defects in colla-
gen or enzymes involved in connec-
FIGURE 6. Calculation of the Beighton score. tive tissue formation have been
identified in several EDS subtypes.
TABLE 2. Proposed Criteria for Hypermobility Syndrome The majority of EDS cases are
represented by types I, II, and III.
Major Criteria The most severe joint laxity is seen
1. A Beighton score of 4 out of 9 or greater (either currently or in EDS type I; affected patients
historically). have significant hypermobility, often
2. Arthralgia for longer than 3 months in four or more joints. accompanied by pain, effusion, and
dislocation. Children who have this
Minor Criteria
condition may experience congenital
1. A Beighton score of 1, 2, or 3 out of 9 (0, 1, 2, or 3 if age is 50+)
hip dislocation, clubfeet, or delayed
2. Arthralgia in one to three joints or back pain or spondylosis,
ambulation due to joint symptoms
spondylolysis/olisthesis.
and leg instability. Associated skin
3. Dislocation in more than one joint or in one joint on more than
one occasion. findings include soft, extensible skin
4. Three or more soft tissue lesions (eg, epicondylitis, tenosynovitis, with a velvety texture, easy bruising,
bursitis). and formation of thin “cigarette
5. Marfanoid habitus (tall, slim, span greater than height, ratio of upper paper” scars when injured. EDS
segment to lower segment <0.89, arachnodactyly). type II is similar to but less severe
6. Skin: striae, hyperextensibility, thin skin, or abnormal scarring. than EDS type I. Both disorders are
7. Eye signs: drooping eyelids, myopia, or antimongoloid slant. caused by defects in type V collagen
8. Varicose vein, hernia, or uterine/rectal prolapse. and inherited in an autosomal domi-
9. Mitral valve prolapse (by echocardiography). nant fashion. Autosomal recessive
cases of EDS type II, caused by
The hypermobility syndrome is diagnosed in the presence of two major or other collagen defects, have been
one major and two minor or four minor criteria. Two minor will suffice reported but are rare. EDS type III
where there is an unequivocally affected first-degree relative. Hypermobil- is similar to type I with respect to
ity syndrome is excluded by the presence of Marfan syndrome or Ehlers- joint involvement, but skin abnor-
Danlos syndrome as defined by the Berlin Nosology. malities usually are limited to an
From: Bird HA. Joint hypermobility: reports from Special Interest Groups of the annual abnormally soft and velvety texture.
meeting of the British Society for Rheumatology. Br J Rheumatol. 1992;31:205–208. For this reason, EDS type III often
Reprinted by permission of Oxford University Press. is confused with hypermobility syn-
drome, which generally is believed
to have few or no skin changes.
includes a wide variety of genetic serious disorders of connective From a practical standpoint, how-
and acquired disorders, and it is tissue is a particularly common ever, the clinical differences are min-
important to consider each of these diagnostic dilemma. Further, imal, and the two disorders should
possibilities when evaluating a asymptomatic hypermobility may be managed similarly. EDS type
patient who presents with general- be detected frequently on routine III is transmitted in an autosomal
ized joint laxity. Differentiating physical examination, prompting dominant fashion, and the precise
hypermobility syndrome from more the possibility of an undiagnosed molecular defect is unknown.

Pediatrics in Review Vol. 19 No. 4 April 1998 115

Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019

 MUSCULOSKELETAL
Hypermobility
Of the less frequent subtypes of
EDS, the most important to recog-
nize is EDS type IV. Although joint
and skin abnormalities are usually
mild, affected individuals have a
markedly increased risk of poten-
tially fatal spontaneous rupture of
the arteries and hollow organs, such
as the colon. Women who have EDS
type IV may experience uterine rup-
ture during pregnancy. This autoso-
mal dominant disorder is caused by
defective type III collagen. Of note,
a revised EDS clinical classification
system has been proposed.
MARFAN SYNDROME
Marfan syndrome is an autosomal
dominant disorder characterized by
a tall, thin body habitus (marfanoid
habitus), long extremities, elongated
fingers (arachnodactyly), ocular
abnormalities (myopia, lens dislo-
cation), and generalized joint hyper-
mobility. It is caused by mutations
in the fibrillin-1 gene on chromo-
some 15. Fibrillin is an essential
glycoprotein component of elastic
connective tissue. Recognition of
this disorder is critical because
patients are predisposed to life-
threatening aneurysms and dissec-
tions of the aorta as well as aortic
valve regurgitation and mitral valve
prolapse. Because of the serious
nature of Marfan syndrome, any
child suspected of having this
condition should undergo genetic,
cardiologic, and ophthalmologic
evaluation. As part of this evalua-
tion, plasma amino acids should be
analyzed to exclude the presence of
homocystinuria, a metabolic disorder
in which there is excessive accumu-
lation of homocystine. In most
cases, this results from deficient
activity of the enzyme cystathionine
synthetase. Clinically, homocystin-
uria is very similar to Marfan syn-
drome with respect to body habitus,
lens dislocation, and generalized
joint hypermobility. However,
patients who have homocystinuria
may have mental retardation and
are at significantly increased risk
of arterial thrombosis.
OSTEOGENESIS IMPERFECTA
Osteogenesis imperfecta, an autoso-
mal dominant disorder of collagen,
is characterized by thin blue sclerae,
excessive joint mobility, and bone
116
Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019
fragility, often resulting in multiple
fractures and bony deformities.
The disorder is highly variable,
frequently arises from a sporadic
mutation, and includes both lethal
and nonlethal forms. Lethal forms
involve severe bone fragility that
is incompatible with life. The non-
lethal varieties may be more subtle
in clinical presentation, with com-
plications related to fractures, joint
instability, short stature, and pro-
gressive spinal deformity. The latter
problem may lead to cardiorespira-
tory compromise, and effective sur-
gical correction is difficult because
of bone fragility. In adulthood, pro-
gressive otosclerosis often results
in deafness.
STICKLER SYNDROME
Stickler syndrome is an autosomal
dominant disorder that is character-
ized by hypermobility, typical facial
features (malar hypoplasia with
depressed nasal bridge and epican-
thal folds), Robin sequence (micro-
gnathia, glossoptosis, and cleft
palate), early-onset arthritis, severe
myopia, and sensorineural hearing
loss. Affected infants often experi-
ence respiratory problems related
to Robin sequence, and children
may develop arthritis before ado-
lescence. Severe myopia and an
increased risk of retinal detachment
necessitate frequent ophthalmologic
evaluation.
WILLIAMS SYNDROME
Williams syndrome is another auto-
somal dominant disorder featuring
hypermobility. However, joint laxity
is observed primarily in childhood;
older affected individuals may
develop joint contractures. These
patients also manifest short stature,
characteristic facial appearance,
hoarse voice, developmental delay
with an outgoing “cocktail party”
personality, and occasional hyper-
calcemia. Patients may have con-
genital cardiovascular disease, most
commonly supravalvular aortic
stenosis, and are predisposed to
develop other vascular stenoses.
Recently, this syndrome has been
found to arise from deletions in the
long arm of chromosome 7, which
always includes the region of the
elastin gene. Definitive diagnosis
is possible by molecular testing.
Pediatrics in Review
Management
After more serious disorders are
excluded and hypermobility syn-
drome is diagnosed, clinical man-
agement is straightforward. First
and foremost, the child and his or
her family should be reassured that
hypermobility syndrome is a rela-
tively common and benign condition
that does not have the potentially
disabling or life-threatening sequelae
of other rheumatologic or connective
tissue disorders. Such reassurance
may prove particularly helpful to
the parents of children who have a
history of nonspecific and recurrent
musculoskeletal complaints.
For acute symptoms, patients
should be advised to use non-
steroidal anti-inflammatory drugs
(NSAIDs) or acetaminophen as
needed. A bedtime dose of a longer
acting NSAID, such as naproxen,
may benefit children who have
nocturnal symptoms. Because the
pathogenesis of joint complaints in
hypermobility syndrome is not
related to inflammation, the effec-
tiveness of NSAIDs for symptoms
other than pain has been disputed.
Moderate or severe symptoms may
necessitate rest or abstention from
activities that aggravate joint com-
plaints. Physical therapy and hydro-
therapy can provide additional relief
of acute symptoms.
Chronic management of this con-
dition typically involves several
strategies, including explanation
of the nature of hypermobility syn-
drome and the association between
excessive joint movement and devel-
opment of symptoms. Patients
should be advised to identify activi-
ties that precipitate symptoms and to
modify their lifestyles accordingly.
Vigorous and repetitive activities, as
performed during certain sports or
hobbies, may underlie the symptoms
and should be targeted as potential
aggravating factors. The use of
NSAIDs or acetaminophen prior to
such activities can help to control
associated symptoms and facilitate
participation. In some cases, affected
children may require a physician’s
excuse to avoid exacerbating symp-
toms during physical education
classes at school.
Despite the importance of avoid-
ing excessive activity, a diagnosis of
hypermobility syndrome should not
Vol. 19 No. 4 April 1998

be used to encourage inactivity.
Rather, it is generally accepted that
moderate exercise is extremely
beneficial by maximizing muscle
support around hypermobile joints.
Swimming is advocated for improv-
ing general muscle tone, and spe-
cific strengthening exercises may
help to increase muscular support
in particularly symptomatic areas.
Because the knee is the joint
involved most commonly, quadri-
ceps exercises can be especially
helpful. Instruction of children in
joint protection techniques also
may prove beneficial. For example,
children who have hyperextensible
knees are encouraged to stand with
their knees slightly flexed, while
those who have unstable ankles
may benefit from the use of an ankle
aircast. Finally, patients who have
significant symptoms or extreme
degrees of joint hypermobility
should be encouraged to avoid all
sports, hobbies, or careers involving
physical activities that may result in
chronic and excessive joint stress.
Prognosis
Because joints tend to stiffen with
age, the natural history of hypermo-
bility syndrome is typically one of
improvement, with progressively
lessening degrees of joint laxity and
associated musculoskeletal symp-
toms. Many affected children out-
grow their symptoms during adoles-
cence or adulthood, and women may
PIR QUIZ
1. Which of the following statements
regarding hypermobility is true?
A. Caucasian children exhibit greater
joint mobility than those of
African descent.
B. Hypermobility is a significant risk
factor for mitral valve prolapse.
C. Joint laxity observed in early
childhood usually diminishes
during late childhood and early
adolescence.
D. Males have a greater degree
of joint laxity compared with
females.
E. The presence of hypermobility is
usually indicative of a serious
underlying connective tissue
disorder.
Pediatrics in Review Vol. 19 No. 4 April 1998
Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019
experience fewer symptoms follow-
ing menopause.
Although hypermobility syndrome
is a relatively benign condition,
some potentially significant sequelae
have been reported to occur with
increased frequency in affected
patients. Studies of hypermobile
football players and ballet dancers
have noted an increased frequency
of ruptured ligaments, joint disloca-
tions, and other orthopedic injuries.
Affected individuals may be predis-
posed to fractures, and scoliosis
may result from hypermobility of
the spine. Some clinicians have
observed hernias as well as uterine
and rectal prolapse with increased
frequency in adults who have hyper-
mobility syndrome.
Finally, it has been speculated
that children who have hypermobil-
ity syndrome are at increased risk of
developing premature degenerative
osteoarthritis as adults. A specific
pattern of progression that involves
onset of osteoarthritis in the fourth
to fifth decade, followed by eventual
chondrocalcinosis within affected
joints, has been described by some
clinicians. However, much of the
evidence for this association has
been anecdotal, and it remains an
issue of considerable debate. It
generally is agreed that only long-
term prospective studies of patients
who have hypermobility syndrome
will provide the needed insight into
the natural history and prognosis of
this common and often unrecognized
condition.
2. An 8-year-old boy is brought to you
for pain in the knees and legs. Which
of the following favors the diagnosis
of hypermobility syndrome?
A. A grade II/VI diastolic murmur is
heard in the second left intercostal
space.
B. After evening soccer practices,
the patient is awakened with pain
at nights.
C. Episodes of joint pain are associ-
ated with low-grade fever.
D. A moderate amount of joint effu-
sion without tenderness is noted
in both knee joints.
E. Point tenderness is observed on
the medial aspect of both knees.
MUSCULOSKELETAL
Hypermobility
SUGGESTED READING
Beighton P, De Paepe A, Steinmann B,
Tsipouras P, Wenstrup RJ. Ehlers-Danlos
syndromes: revised nosology, Villefranche,
1997. Am J Hum Genet. 1997;61(suppl):
A49
Beighton P, Solomon L, Soskolne CL. Articu-
lar mobility in an African population.
Ann Rheum Dis. 1973;32:413–418
Bird HA. Joint hypermobility: reports from
Special Interest Groups of the annual
meeting of the British Society for Rheuma-
tology. Br J Rheumatol. 1992;31:205–208
Biro F, Gewanter HL, Baum J. The hyper-
mobility syndrome. Pediatrics. 1983;72:
701–706
Carter C, Wilkinson J. Persistent joint laxity
and congenital dislocation of the hip.
J Bone Joint Surg Br. 1964;46B:40–45
Gedalia A, Brewer EJ. Joint hypermobility in
pediatric practice—a review. J Rheumatol.
1993;20:371–374
Gedalia A, Person DA, Brewer EJ, Giannini
EH. Hypermobility of the joints in juvenile
episodic arthritis/arthralgia. J Pediatr. 1985;
107:873–876
Hall MG, Ferrell WR, Sturrock RD, Hamblen
DL, Baxendale RH. The effect of the hyper-
mobility syndrome on knee joint proprio-
ception. Br J Rheumatol. 1995;34:121–125
Handler CE, Child A, Light ND, Dorrance
DE. Mitral valve prolapse, aortic com-
pliance, and skin collagen in joint hyper-
mobility syndrome. Br Heart J. 1985;54:
501–508
Kirk JA, Ansell BM, Bywaters EGL. The
hypermobility syndrome: musculoskeletal
complaints associated with generalized
hypermobility. Ann Rheum Dis. 1967;26:
419–425
Mishra MB, Ryan P, Atkinson P, et al. Extra-
articular features of benign joint hyper-
mobility syndrome. Br J Rheumatol. 1996;
35:861–866
Morgan AW. Report on the Hypermobility
Special Interest Group. Br J Rheumatol.
1996;35:392–393
Raff ML, Byers PH. Joint hypermobility
syndromes. Curr Opin Rheumatol. 1996;
8:459–466
3. Which of the following is the most
appropriate management of a child
who has hypermobility syndrome?
A. Genetic counseling.
B. Periodic echocardiographic
evaluation.
C. Reassurance of its benign nature.
D. Slitlamp examination of eyes.
E. Urine amino acid analysis.
4. Which of the following conditions
is associated with dislocated lens?
A. Ehlers-Danlos syndrome.
B. Homocystinuria.
C. Hypermobility syndrome.
D. Osteogenesis imperfecta.
E. Williams syndrome.
117
 Hypermobility Syndrome
David B. Everman and Nathaniel H. Robin
Pediatrics in Review 1998;19;111
DOI: 10.1542/pir.19-4-111

Updated Information & including high resolution figures, can be found at:
Services http://pedsinreview.aappublications.org/content/19/4/111
References This article cites 12 articles, 4 of which you can access for free at:
http://pedsinreview.aappublications.org/content/19/4/111.full#ref-list-1
Subspecialty Collections This article, along with others on similar topics, appears in the following
collection(s):
Rheumatology/Musculoskeletal Disorders
http://classic.pedsinreview.aappublications.org/cgi/collection/rheumatology:musculo
skeletal_disorders_sub
Permissions & Licensing Information about reproducing this article in parts (figures, tables) or in its entirety
can be found online at:
https://shop.aap.org/licensing-permissions/
Reprints Information about ordering reprints can be found online:
http://classic.pedsinreview.aappublications.org/content/reprints

Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019

 Hypermobility Syndrome
David B. Everman and Nathaniel H. Robin
Pediatrics in Review 1998;19;111
DOI: 10.1542/pir.19-4-111

The online version of this article, along with updated information and services, is located on the
World Wide Web at:
http://pedsinreview.aappublications.org/content/19/4/111

Pediatrics in Review is the official journal of the American Academy of Pediatrics. A monthly publication, it has
been published continuously since 1979. Pediatrics in Review is owned, published, and trademarked by the
American Academy of Pediatrics, 345 Park Avenue, Itasca, Illinois, 60143. Copyright © 1998 by the American
Academy of Pediatrics. All rights reserved. Print ISSN: 0191-9601.

Downloaded from http://pedsinreview.aappublications.org/ at Philippines:AAP Sponsored on October 3, 2019