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Arthrogryposis: Introduction
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andClassication
OlgaAgranovich
20
Abstract
Arthrogryposis is a heterogeneous condition
dened as multiple congenital contractures in
two or more different areas of the body.
Amyoplasia is the most common form of
arthrogryposis occurring in about 1/10,000
live births. It presents a sporadic condition.
The incidence of upper limb deformities due
to amyoplasia is high (72–84.8%). The
patients with amyoplasia have typical defor-
mities of upper extremities: the shoulder joints
are held in adduction, the elbow joints—in
extension (less often in exion), the wrists—
in exion, the thumbs adducted, and the n-
gers’ joints—in varying degrees of exion.
The muscles are either absent, reduced in size,
or replaced by brous or adipose tissue. The
classication of upper limbs deformities is
based on the level of spinal cord injury. All
deformities are divided into two groups (differ
from each other by the level of damage of the
spinal cord and range of passive and active
motion in all joints of the upper limb): isolated
forms and complex forms (the latter present
amyoplasia in combination with other pathol-
ogy—obstetric palsy, cerebral disorders, and
congenital hand anomalies).
O. Agranovich (*)
Arthrogryposis, Federal State Budgetary Institution
the Turner Scientic Research Institute for Children’s
Orthopedics Under the Ministry of Health of the
Russian Federation, St. Petersburg, Moscow, Russia
Keywords
Arthrogryposis · Multiple congenital contractures · Upper limb · Spinal cord
The term arthrogryposis is used to describe a
very heterogeneous group of affected individuals
who are recognized in the newborn period as having multiple congenital contractures that affect
two or more different areas of the body [1].
The incidence of arthrogryposis is about
1/3000 pregnancies [2]. Of these children, about
1/3 primarily have limbs affected, 1/3 have limbs
plus other body areas affected with normal intelligence, and 1/3 have central nervous system dysfunction (in the past, half of these would die at
birth or in the rst year). Over 400 specic
genetic abnormalities (including gene mutations
and chromosomal abnormalities, deletions, and
duplications) have been associated with multiple
congenital joint contractures [3–6]. The joint
contractures are secondary to a lack of motion
during fetal life. Multiple processes can lead to a
lack of fetal limb movement, including muscle
abnormalities, nerve anomalies, a restricted intrauterine space, vascular insufciency, and maternal illness, but often the course of this pathology
remains unknown [7].
Amyoplasia is the most common form of
arthrogryposis occurring in about 1/10,000 live
births and presents a sporadic condition [3, 4].
The incidence of upper limb deformities due to
© Springer Nature Switzerland AG 2023
G. Pajardi (ed.), Pediatric Hand Surgery, https://doi.org/10.1007/978-3-031-30984-7_20
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O. Agranovich
amyoplasia is high (72–84.8%) [3, 8, 9]. Gibson
and Urs examined 114 patients with arthrogryposis and found out that the wrist was most commonly affected (32%), closely followed by the
hand (26%), elbow (25%), and shoulder (19%)
[8, 9].
20.1 Classication ofUpper Limbs
Deformities
DuetoAmyoplasia
The patients with amyoplasia have typical
deformities of upper limbs: the shoulder joints
are held in adduction, the elbow joints—in
extension (less often in flexion), the wrists—
in flexion, the thumbs adducted and the fingers’ joints—in varying degrees of flexion.
The muscles are either absent, reduced in size,
or replaced by fibrous or adipose tissue [10].
In 84% of the cases, patients with arthrogryposis have deformities of both upper extremities [11].
The goals of treatment of upper limb deformities are to achieve independent function sufcient
for self-feeding and peroneal care [7]. In less
severe cases, it is possible to restore upper limb
function up to normal, in more severe cases,
some improvement of self-service can be
achieved. The degree of success depends on the
level of spinal cord injury and severity of
pathology.
The classication of upper limbs deformities
is based on the level of spinal cord injury (in
modication of Brown etal. [12]). All deformities are divided into two groups (differ from each
other by the level of damage of the spinal cord
and range of passive and active motion in all
joints of upper limb).
Table 20.1 Variants of upper limb deformities due to
amyoplasia linking with the level of spinal cord injury
C6 C6-C7 C5-C7 C5-Th1
Shoulder +
Elbow + + + +
Wrist + + +
Hand ± + +
Rotation deformities + +
Self-ability problems ± ± ± +
± Possible functional insufciency in upper limb or
segment
a
+ Obligatory functional insufciency in upper limb or
segment
a
+
20.2 Isolated Forms ofUpper
Limb Deformities
DuetoAmyoplasia
20.2.1 Type 1: Level ofSpinal Cord
Injury: C6-C7
20.2.1.1 Clinical Picture
Shoulder—full passive movement, active movement is totally or moderately limited (abduction
≥70°), the muscles of shoulder girdle are normal
or moderately hypoplastic.
Elbow—full or moderately limited passive
movement, active movement limited or absent,
active supination is limited.
Wrist—full or limited passive movement,
active exion is preserved, active extension is
limited or absent.
Hand—a good hand function, ngers contractures are rare, sometimes limitation of thumb
abduction may be seen.
Prognosis of treatment is good (Fig.20.1).
20.2.2 Type 2: Level ofSpinal Cord
Injury: Partial C5, C6-C7
• Isolated forms: type 1 (C6-C7), type 2 (partial
C5, C6-C7), type 3 (C5-Th1), and type 4 (С6)
(Table20.1).
• Complex forms (present amyoplasia in combination with other pathology): obstetric
palsy, cerebral disorders, and congenital hand
anomalies (symbrachydactyly, ectrodactyly,
polydactyly).
20.2.2.1 Clinical Picture
Shoulder—passive movement is fully or partially
limited, active movement limited (abduction
30–45°), the shoulder-girdle muscles are
hypoplastic.
Elbow—fully or moderately limited passive
movement, active movement is severely limited
or absent, active supination is absent.
20 Arthrogryposis: Introduction andClassication
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ab c
d
247
Fig. 20.1 Upper limb deformities in patient with level С6-С7. Clinical picture (a–d)
Wrist—exion contracture with ulnar deviation, passive movement is moderately limited,
active exion is limited, active extension is limited or absent.
Hand—a good or moderately limited hand
function, sometimes ngers contractures and
thumb-in-palm are present.
Prognosis of treatment is good or satisfactory
(Fig.20.2).
20.2.3 Type 3: Level ofSpinal Cord
Injury: C5-Th1
20.2.3.1 Clinical Picture
Shoulder—passive movement is limited, active
movement is absent or severely limited (abduction 10–30°), shoulder-girdle muscles are hypoplastic or aplastic, and internal rotation of upper
extremity is limited.
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abc
d
O. Agranovich
Fig. 20.2 Upper limb deformities in patient with level С5-С7. Clinical picture (a–d)
Elbow—extension or exion contracture, passive movement is severely or moderately limited,
active movement is severely limited or absent,
and active supination is absent.
Wrist—exion contracture with ulnar deviation or hand in the middle position, passive movement is severely limited or absent, active exion
is severely limited or absent, and active extension
is absent.
Hand—function is poor or absent, exion ngers contractures, symphalangia, thumb-in- palm
symptom is present.
Prognosis of treatment is satisfactory or poor
(Fig.20.3).
20.2.4 Type 4: Level ofSpinal Cord
Injury: C6
20.2.4.1 Clinical Picture
Shoulder—full passive movement is present,
active movement is full or moderately limited,
and shoulder-girdle muscles are preserved or
moderately hypoplastic.
Elbow—passive exion is severely limited or
preserved, active extension is preserved, and
active exion is moderately or severely limited.
Wrist—contractures are absent.
Hand—function is good and ngers contractures are absent.
Prognosis of treatment is good (Fig.20.4).
ab
20 Arthrogryposis: Introduction andClassication
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c
Fig. 20.3 Upper limb deformities in patient with level С5-Th1. Clinical picture (a–c)
abc
Fig. 20.4 Upper limb deformities in patient with level С6. Clinical picture (a–c)
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O. Agranovich
20.3 Summary
Arthrogryposis is a rare condition, which is characterized by multiple congenital contractures that
affect two or more different areas of the body.
The most common type of arthrogryposis is
amyoplasia. It is a sporadic condition, which has
a frequency of one in 10,000 live births. The classication of upper limbs deformities is based on
the level of spinal cord injury. All deformities are
divided into two groups based on the level of
damage of the spinal cord and range of passive
and active motion in all joints of the upper limb.
Correct diagnosis of the type of upper limb
deformity in patients with amyoplasia may allow
for selection of the optimal treatment and for the
prediction of the outcome.
References
1. Bamshad M, Van Heest AE, Pleasure
D. Arthrogryposis: a review and update. J Bone
Joint Surg Am. 2009;91(Suppl 4):40–6. https://doi.
org/10.2106/JBJS.I.00281.
2. Lowry RB, Sibbald B, Bedard T, Hall JG.Prevalence
of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and
a strategy for classication and coding. Birth Defects
Res A Clin Mol Teratol. 2010;88(12):1057–61.
https://doi.org/10.1002/bdra.20738.
3. Hall JG, Aldinger KA, Tanaka KI.Amyoplasia revisited. Am J Med Genet A. 2014;164A(3):700–30.
https://doi.org/10.1002/ajmg.a.36395.
4. Hall JG, Kiefer J.Arthrogryposis as a syndrome: gene
ontology analysis. Mol Syndromol. 2016;7:101–9.
https://doi.org/10.1159/00044661.
5. Hall JG, Reed SD, Driscoll EP. Amyoplasia: a common sporadic condition with congenital contractures.
Am J Med Genet. 1983;15:571–90. PMID: 6614047.
https://doi.org/10.1002/ajmg.1320150407.
6. Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classication, genetics, and general principles. Eur J Med
Genet. 2014;57(8):464–72. https://doi.org/10.1016/j.
ejmg.2014.03.008.
7. Kozin SH.Arthrogryposis. In: Green D, Hotchkiss R,
Pederson W, Wolfe S, editors. Green’s operative hand
surgery. 5th ed. New York: Churchill Livingstone;
2005.
8. Gibson DA, Urs NDK. Arthrogryposis multiplex
congenita. J Bone Joint Surg. 1970;52B:483–93.
PMID:5455080.
9. Van Heest A, Waters PM, Simmons BP.Surgical treatment of arthrogryposis of the elbow. J Hand Surg Am.
1998;23(6):1063–70. PMID: 9848560. https://doi.
org/10.1016/S0363- 5023(98)80017- 8.
10. Mennen U. Arthrogryposis multiplex congenita:
functional classication and the AMC disc-o-gram. J
Hand Surg Br. 2004;29(4):363–7. PMID:15234501.
https://doi.org/10.1016/j.jhsb.2004.02.007.
11. Sells JM, Jaffe KM, Hall JG.Amyoplasia, the most
common type of arthrogryposis: the potential for
good outcome. Pediatrics. 1996;97(2):225–31.
PMID:8584382.
12. Brown LM, Robson MJ, Sharrard WJ. The pathophysiology of arthrogryposis multiplex congenita
neurologica. J Bone Joint Surg Br. 1980;62(3):291–6.
PMID: 7410459.
Thumb inArthrogryposis
https://t.me/medicina_free
ChiaraNovelli, GiuliettaProserpio,
andGiorgioPajardi
21
Abstract
Arthrogryposis is a congenital disorder, a set
of conditions of different aetiologies that are
characterized by joint stiffness and contractures affecting at least two different areas of
the body. Thumb in arthrogryposis is clasped
with a exion adduction deformity. It is characterized by deciency of thumb extensors,
exion contracture of the metacarpophalangeal joint with possible instability, narrowing
of the rst web space due to different contractures of the web structures and lack of skin.
Thumb function, its position, its length, its
stability and its strength are essential for a
proper grip. The loss of these features due to
contracture in arthrogryposis reduces signicantly patients’ function and dexterity.
Manipulation of the deformities starting soon
after birth can improve the range of motion,
which, if surgery needs to be done, makes the
operation less extensive. Release of structures
that are contracted, skin correction, gain of
C. Novelli (*) · G. Proserpio
Milan, Italy
e-mail: chiara.novelli@multimedica.it
G. Pajardi
Department of Hand Surgery and Rehabilitation,
S. Giuseppe Hospital IRCCS MultiMedica, Milan
University, Milan, Italy
e-mail: gpajardi@centrostudimano.it
stability, good position and, if possible,
replacement of structures that are weak or
absent are the aim of the surgical treatment.
Keywords
Thumb · Arthrogryposis · Thumb contracture
Thumb correction · First web contracture ·
First web release
Arthrogryposis is a descriptive term used to
describe a host of clinical conditions resulting in
nonprogressive multiple congenital joint contractures [1]. Once arthrogryposis was considered a
distinct diagnosis for multiple joint contracture,
it is now understood that arthrogryposis is a
description of a heterogeneous group of some
300 different conditions with a variety of aetiologies including gene mutations [2].
The term arthrogryposis derives from the
Greek words arthros (joint) and grypon (hooked),
and it was coined by Rosencrantz [3]. In 1923,
Stern used the term arthrogryposis multiplex
congenita to describe the observed multiple joint
involvement at birth [4]. Then the term amyoplasia appeared (literally, “a” means no, “myo”
means muscle, “plasia” means development); it
was created by Sheldon underling the thought
that the primary cause for the condition was poor
foetal muscle development [5].
© Springer Nature Switzerland AG 2023
G. Pajardi (ed.), Pediatric Hand Surgery, https://doi.org/10.1007/978-3-031-30984-7_21
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All forms are associated with foetal akinesia;
in most cases, joint development is normal during
embryogenesis, but at a certain moment, there is
a movement decrease. Foetal movements are crucial to the correct development of joints; a reduction leads to contracture. An early onset of
akinesia and the severity of contracture are
related, as demonstrated in several invivo studies
[6, 7]. All factors that reduce foetal movements
are involved in arthrogryposis, and its aetiology
is multifactorial. Possible causes of akinesia
include myopathic processes, neuropathic processes, neuromuscular endplate abnormalities,
abnormalities of connective tissue, limitations of
in utero space, maternal illness, maternal exposures, compromise of blood supply to placenta
and foetus, metabolic disturbances and epigenetic disorders like part of complex syndromes [8].
In utero decreased movement leads to an
increase of connective tissue around the joints
that limits the joint movement, and it increases
the contractures [9], muscle atrophy of the muscles associated with the joint due to disuse and
abnormal joint surfaces that appear more squared.
Thumb in arthrogryposis is in palm with a narrow rst web and soft tissue and muscle contractures (Fig. 21.1). The problems associated with
joint contractures are a lack of skin, short tendons, joint stiffness with instability and weak
muscles [10]. Particularly thumb is characterized
by deciency of the extensors (Fig.21.2), exion
contracture of the metacarpophalangeal joint that
can be also instable, skin deciency of the rst
Fig. 21.1 Typical aspect of thumb in arthrogryposis
C. Novelli et al.
Fig. 21.2 Lack of extension
web and narrowing of the rst web space due to
variable combinations of contracture of the web
structures. Also exor pollicis longus can present
a contracture. Thenar muscles are hypoplastic
with brosis. Grasp and pinch are limited or
absent by the severity of these deformities.
Goal of treatment is to improve thumb mobility and function in order to increase independence with activities of daily living. Occupational
and physical therapies are essential components
of treatment, and they begin at a very young age.
Surgery became important when poor results are
achieved with physiotherapy. Every treatment,
surgical and nonoperative, must be tailored to
each patient. A realistic family and patient expectation is also essential because it is not possible to
restore a normal digital motion; function can just
be improved [11]. For the assessment, hand
X-rays are required.
First approach with thumb in palm is a gentle
manipulation and stretching since birth, repeating them a lot of times during the day. The use of
customized splints to continue stretching and
maintain results during the night is also indicated.
Free use of the upper limbs during the day is
essential to allow children to explore and nd
their own way of managing activities. Parents
need the support of trained hand therapists to
learn the correct way of manipulating and stretching the thumb. Occupational therapists can assist
in providing orthoses or adaptive equipment to
support some activities, especially as children get
older.
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Fig. 21.3 Skin drawing
If adequate progress is not achieved, surgery
becomes necessary. Timing of surgery is controversial, but early management is recommended
to have a minimal impact on child development.
Surgery should be done before contractures
become more xed and joint surface anatomy
and joint congruity change, making joint movement more difcult and limited. With time also
intra-articular adhesions increase, preventing
normal gliding surfaces; the skin becomes less
pliable, further preventing normal joint movement [12].
The techniques of reconstruction of clasped
thumb in arthrogryposis have not been widely
discussed in the literature.
The aims of thumb correction are to release
the narrow web structures, to augment the skin of
the rst web and to obtain extension and stabilization of the metacarpophalangeal joint. Different
techniques of skin aps have been described for
skin augmentation of the narrow web, using of
four-ap z-plasties [13] or a local ap [14, 15]
(Fig.21.3).
After web skin incision, the tight fascia of the
rst dorsal interosseous and adductor pollicis
have to be released. When adductor release alone
does not allow proper thumb positioning, also the
thenar muscles must be released (Fig.21.4). An
incision is made next the thenar crease, and the
origin of the thenar muscles is released after rst
identifying and protecting the motor branch of
the median nerve. A Kirshner xation of the
Fig. 21.4 Muscle release
Fig. 21.5 Extensor tendon correction
metacarpophalangeal joint can be done for correct skin and thumb position healing. When there
is an instability of the metacarpophalangeal joint,
a chondrodesis can be performed [16], and sometimes also an opponensplasty is needed.
If the exor pollicis longus is tight and prevents thumb abduction, a lengthening at the musculotendinous junction can be performed with
attention to not weaken the function.
After muscle and soft tissue release, a careful
examination can reveal the status of active thumb
extension. In some cases, extensor pollicis longus
function is present. However, in some cases, the
extensor pollicis longus is poor or absent, and it
has to be treated to avoid recurrence of thumb
deformity. Sometimes, this tendon can be plicated (Fig.21.5); otherwise a tendon transfer can
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Fig. 21.6 Follow-up
Fig. 21.7 Improvement in thumb extension
be considered to increase extensor power [17].
Unfortunately, in many cases, no adequate tendon is available for transfer.
After skin healing and Kirshner wire removal,
physiotherapy and splinting are essential. The
risk of recurrence or development of worse contractures is high without a correct postoperative
protocol compliance.
Thumb in arthrogryposis treatment is a challenge to the hand surgeon and therapist. An early
non-operative approach with manipulation and
splints is necessary and can avoid surgery.
Surgery becomes indicated when an adequate
C. Novelli et al.
progress is not achieved. Its aim is to improve
thumb position (Fig. 21.6) and function
(Fig.21.7) to allow patient independence.
References
1. Bamshad M, Van Heest AE, Pleasure
D.Arthrogryposis: a review and update. J Bone Joint
Surg Am. 2009;91(Suppl 4):40–6.
2. Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe
KM, Song K. Arthrogryposis multiplex congenita
(amyoplasia): an orthopaedic perspective. J Pediatr
Orthop. 2007;2:594–600.
3. Rosencranz E. Uber kongenitale kontrakturen der
oberen extremitöten. Z Orthop Chir. 1905;14:52–62.
4. Stern WG.Arthrogryposis multiplex congenita. J Am
Med Assoc. 1923;8:1507–10.
5. Sheldon W.Amyoplasia congenita: multiple congenital articular rigidity: arthrogryposis multiplex congenita. Arch Dis Child. 1932;7:117.
6. Moessinger AC.Fetal akinesia deformation sequence:
an animal model. Pediatrics. 1983;72:857–63.
7. Hall JG, Opitz JM, Reynolds JF. Analysis of Pena
Shokeir phenotype. Am J Med Genet. 1986;25:99–117.
8. Hall JG.Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classication,
genetics, and general principles. Eur J Med Genet.
2014;57:464–72.
9. Swinyard CA. Concepts of multiple congenital
contractures (arthrogryposis) in man and animals.
Teratology. 1982;25:247–59.
10. Lester R.Problems with the upper limb in arthrogryposis. J Child Orthop. 2015;9:473–6.
11. Waters PM, Bae DS.Hand and upper limb surgery: a
practical guide. Philadelphia: LWW; 2012. p.237–44.
12. Mennen U, Van Heest A, Ezaki MB, Tonkin M,
Gericke G. Arthrogryposis multiplex congenita. J
Hand Surg Br. 2005;30:468–74.
13. Broadbent TR, Woolf RM. Flexion-adduction deformity of the thumb-congenital clasped thumb. Plast
Reconstr Surg. 1964;34:612–6.
14. Abdel-Ghani H. Modied dorsal rotation advancement ap for release of the thumb web space. J Hand
Surg Br. 2006;31:226–9.
15. Ezaki MB, Oishi SN. Index rotation ap for palmar thumb release in arthrogryposis. Tech Hand Up
Extrem Surg. 2010;14:38–40.
16. McCarroll HR, Manske PR. The windblown hand:
correction of the complex clasped thumb deformity.
Hand Clin. 1992;8:147–59.
17. Oishi SN, Agranovich O, Pajardi GE, Novelli C,
Baindurashvili AG, Tromova SI, Abdel-Ghani
H, Kochenova E, Proserpio G, Jester A, Yilmaz G,
Senaran H, Kose O, Butler L.Treatment of the upper
extremity contracture/deformities. J Pediatr Orthop.
2017;37:S9–S15.
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