This document provides information about arthrogryposis, including: 1) It defines arthrogryposis as non-progressive joint contractures present at birth involving at least two body areas. 2) Pathological findings include absent or small muscles replaced by fibrofatty tissue, thin bones, and small nerves. 3) Causes may be genetic, environmental, or unknown. Treatment involves rehabilitation, serial casting/splinting, and surgery to correct deformities and improve function.

1. ARTHROGRYPOSIS
DR G AVINASH RAO
FELLOW IN HAND AND MICROSURGERY

4. INTRODUCTION
 1st depicted in 1841 by A.W. Otto, he called - congenital myodystrophy.
 Subsequently termed “multiple congenital contractures” by Schantzin 1897,
 Arthrogryposis” by Rosenkranz.
 Greek, literature - meaning "curving of joints" (arthron "joint"; grȳpōsis
"hooking / bent").
 Arthrogryposis Multiplex Congenita term coined by WG Stern in 1923
 Scheldonin 1932 described clinical features of congenital multiple
contractures in a child and used for the first time the name “amyoplasia
congenita”
 Other terms were amyoplasia congenita and congenital arthromyodysplasia

5. Pathological Anatomy
 Arthrogryposis affects the entire musculoskeletal system.
 Children with arthrogryposis have absent or hypotrophic muscles
but may retain the associated tendons and overlying fascia.
 As the child grows, these noncontractile tissues can tether
the joints, which may lead to joint contractures.
 Because the bones do not have the normal load of
muscle activity or weight bearing, they may be severely
osteopenic.

6.  Cortices in these children tend to be quite thick, but the
bones are of small diameter and the medullary canal is nearly
absent.
 The motor and mixed nerves are also small in caliber compared
with those in other children of the same size.
 With thin bones and a hypoplastic musculature, the subcutaneous
fat encompasses - a larger than expected percentage of the bulk of
the arms.

7. DEFINITION
 The term arthrogryposisis used to denote non progressive conditions
characterized by multiple joint contractures found at birth & It involves
contractures of at least two joints in two different body regions.
 Incidence: Varies Considerably (from country to country)
 Any child with congenital joint contractures in two or more limbs can be
classified as having arthrogryposis multiplex congenita (AMC); the term does
not specify any certain cause for the contractures.

8.  Arthrogryposis can result from environmental or genetic causes but is most
often idiopathic with wide range of levels of severity and anatomic
involvement.
 Arthrogryposis can also result from myriad disorders that compromise the
central or peripheral nervous system or the musculature; currently, over
300 types have been identified.
 Muscles are either absent or hypoplastic, often replaced by fibrofatty tissue.
Tendons and overlying fascia are often preserved even when no muscle is
present, leading to tethering at the joints.

9.  Children with amyoplasia have a characteristic appearance
with high cheeks and button noses and “stork bite”
hemangiomas over the occiput and the bridge of the
nose.
 Children tend to have average to above average
intelligence.
 Terminal limb deficits are more common in amyoplasia
patients than in the general population.
 The family history is usually positive in DA and in other
inheritable neuromuscular conditions, but it is otherwise

10. Etiology
 It usually occurs due to absence of active fetal movements (akinesia), normally
appearing in the eighth week of fetal life
 Fetal akinesia lasting over 3 weeks may be sufficient to result in absence of
normal stretching of muscles and tendons acting on the affected joints, and
cause reduced compliance of the joint capsule and periarticular ligaments
 Consequently fetal akinesia leads to fibrosis and contractures of the affected
joints determined by the passive position of the limb.
 The direct etiological factor causing akinesia in humans remains unknown.

11. Hall’s Classification of AMC
1) Primarily Limb Involvement
2) Limb involvement+ other body areas.
3) Limb + CNS involvement

12. Pathogenesis – Intrinsic Factors
 Maternal Considerations
1. Multiple Sclerosis
2. Diabetes Mellitus
3. Myasthenia Gravis
4. Maternal Infection
5. Maternal Hyperthermia
6. Drug Exposure
7. Myotonic Dystorphy
 Intrauterine Vascular Compromise
1. Severe bleeding
2. Failed termination
3. Monozygotic twins
4. Amniotic Bands
 Neurologic Deficit
1. Disorders of Cerebrum
2. Anterior Horn Cell deficiency
3. Abnormalities of nerve function or
structure (central and peripheral)
Genes resulting in abnormal development of
myocytes - congenital muscular dystrophy
Connective Tissue/Skeletal Deficit
1. Primary disorder of joint/connective
tissue
2. Diastrophic dysplasia.
3. Collagen disorders - Larsen's
syndrome, multiple pterygium
syndrome, congenital
arachnodactyly, and Beals syndrome

13. Pathogenesis – Extrinsic Factors
1) Intrauterine mechanical obstruction
2) Fetal crowding: multiple births
3) Oligohydramnios
4) Uterine myomas
5) Amniotic bands
6) Trauma

14. Genetics of Arthrogryposis
 Arthrogryposis is a group of clinical symptoms that can be observed in many
different genetic syndromes :
1) Sporadic
2) Single-gene mutations (e.g. autosomal dominant, autosomal recessive and
X-linked recessive inheritance patterns).
3) Chromosomal disorders (e.g. trisomy 18) such as deletion, translocation, or
duplication, and mitochondrial disorders.

15. Approach to diagnosis
 Family history
 Pregnancy history
 Delivery history
 Physical exam
 Multidisciplinary approach

16. Upper limb
 Shoulder
 Adducted and internally rotated.
 Deltoid muscle function is deficient.
 Elbow
 Extension contracture of the elbows with deficient brachialis and biceps
brachii function, resulting in absent or significantly deficient elbow
flexion.
 Flexion contracture of the elbow is less commonly observed. The
elbow joint is cylindrical in appearance and devoid of any skin
creases .
 Forearm in neutral to slight pronation

17.  Wrist
 Characteristic palmar flexion contracture with ulnar deviation and pronation of the hand.
 Patients with myogenic arthrogryposis / DA may present with extension contracture of the
wrist.
 Hand
 Flexion contractures of interphalangeal joints (most common).
 Metacarpophalangeal joints relative extension contractures.
 Thumb is usually adducted. Finger contractures are usually stiff and most patients have
significant deficiency of active finger movements
 In syndromic arthrogryposis - “clenched fist” with “thumb in palm” deformities may be
observed.

18. Lower limb
 Hip
1. Mostly flexion, abduction, and external rotation contractures of varying degrees of
severity.
2. Unilateral or bilateral hip dislocation is observed in approximately 1/3 of patients.
 Knee –
1. The most common deformity is flexion contracture of varying severity, Flexion
contracture is usually associated with weak quadriceps and a “dimple” over the
patella.
2. An extension contracture is less commonly observed and may be accompanied by
knee dislocation.

19.  Ankle joint And Foot
 These deformities are observed in nearly all arthrogryposis patients.
 Severe talipes equinovarus (most common).
 Less frequently vertical talus observed.
These deformities are characterized by usually extreme severity, difficulties in
treatment and high tendency to relapse.
 Spine
 Abnormal curvatures in approximately 28% to 67% of patients
 Simple long thoracolumbar curves without concomitant vertebral malformations
 The curves often rapidly progress.

20. Extra skeletal manifestations
 Facial skeleton –
 Hypoplasia of the mandible (micrognathia).
 Contracture and limited function of temporo-mandibular joints.
 Extraskeletal clinical signs and symptoms
 Normal intelligence
 Hemangioma on the forehead.
 Abdominal wall abnormalities(inguinal hernia or gastroschisis)
 Varying abnormalities of the reproductive.

21. DISTAL ARTHROGRYPOSIS
 Inheritance is autosomal dominant
 Contractures limited mainly to the distal portions of the limbs, i.e. to wrists,
hands, ankles, and joints of the foot.
 Contractures of other joints are low-degree or absent.
 According to Bamshad 10 types of distal arthrogryposis had been described
The most common DAs are types 1, 2A, and 2B (DA1,
DA2A, and DA2B.

22. Bamshad M, Van Heest AE, Pleasure D: Arthrogryposis: a
review and update. J Bone Joint Surg Am 91(Suppl 4):40–46,
2009.

23. Other Arthrogryposis
 Pterygium syndromes
 These are a separate class of genetically mediated congenital contractures,
characterized by the presence of pterygia: these are skin webs located in the
area of a joint and causing limitation of its range of motion.
 Skin webs may also be found in lateral portions of the neck, and be
accompanied by cleft palate or lip, syndactyly or atypical fingerprints.
 Many variations have been described with varying inheritance patterns of
clinical features including autosomal dominant or recessive, e.g. lethal
Bartsocas-Papas syndrome

24.  Escobar's syndrome (multiple pterygium syndrome)
 Neck webs are evident at birth but are not always severe.
 Clinically the Escobar syndrome is characterized by facial dysmorphism, neck (bucco-
sternal) webs, and hand contractures. With age, the neck webs may increase in size; the
neck mobility is limited due to concomitant congenital vertebral malformations.
 The lumbar lordosis increases with age as well; in adolescence, lumbar lordosis and
popliteal and cubital webs increase in size.
 The inheritance pattern is autosomal recessive, sometimes autosomal dominant; the
syndrome may be associated with mental retardation.
 The lethal multiple pterygium syndrome is autosomal recessive; features include severe
contractures, hypertelorism, cervical pterygia, narrow chest, and hypoplastic lungs.

25. Popliteal Pterygium
Multiple Pterygium

26.  Larsen syndrome
 A genetically mediated, autosomal dominant syndrome with an incidence of
1/100,000 live births, caused by a mutation of the gene encoding filamin B (FLNB), a
component of the actin complex in the cell protein cytoskeleton.
 The clinical features of Larsen syndrome may include multiple contractures, most
commonly in the form of talipes equinovarus.
 The dominant features are hypermobility and congenital dislocations of multiple
joints: hips, knees, and elbows. Cervical spine instability and kyphosis may be present,
leading to potentially life-threatening cervical cord injuries.
 Other features include: laryngomalacia and/or subglottic stenosis, low body stature,
central facial hypoplasia, and accessory metacarpal and metatarsal bones. Mental
development is usually normal.

27. .

28.  Bruck syndrome
 Extremely rare, autosomal recessive form of arthrogryposis, with combined
clinical features of osteogenesis imperfecta and congenital contractures; this
disease was historically described by Alfred Bruck in 1897

32. Investigations
 Routine radiographs are unnecessary for patients with arthrogryposis.
Some experts advocate lateral finger radiographs to evaluate
phalangeal condyle hypoplasia in cases of camptodactyly.
 Neither computed tomography nor magnetic resonance imaging is
necessary for the diagnosis or treatment of AMC.
 Electrodiagnostic studies are rarely necessary other than in
evaluating specific neurogenic contracture syndromes.
 Muscle biopsy rarely yields useful information unless a specific,
unusual diagnosis is being pursued.

33. Treatment
 The principal treatment goal in arthrogryposis is optimization of quality of
life: this includes communication capabilities, unassisted activities of daily
living, social participation capacity, independent ambulation, and
consequently independent living.
 In order to achieve these goals, management must be initiated as early as
possible, and optimally in the neonate and infant.

34.  The goal of any treatment plan for a child with arthrogryposis is to
maximize functional independence for that child.
 For the lower extremities, the goals are ambulation and sitting.
 For the upper extremity, the primary goals are to have “one hand to
eat and one to wipe.”
 They can be by the same hand.
 The child must be able to acquire the food and Grip it firmly enough to
bring it to the mouth, and release it. Beyond that, the wrist and the
elbow combined must have enough extension to reach the plate or
the table and sufficient flexion to allow the hand to reach the mouth.
 Forearm and shoulder rotation need to allow the hand to face the plate
and then the mouth.

35.  Perineal care can be performed through the legs or around
the back.
 Children who wipe their buttocks through the legs require wrist
flexion, elbow extension, and shoulder internal rotation.
 Children who wipe their buttocks around the back require
forearm supination, elbow extension, and shoulder extension.

36.  This comprehensive approach is based on a triad of treatment tools:
 Firstly, rehabilitation including physiotherapy, manipulation of
contractures, and later social and occupational rehabilitation.
 Secondly, individually tailored orthotic management, whether for
maintenance or correction of joint mobility, and for prevention of
recurrent deformities.
 Thirdly, a broad spectrum of surgical techniques for correction of
musculoskeletal deformities, typically found in congenital contractures

37. Rehablitation and Physiotherapy
 The parents of a child with arthrogryposis often place the greatest importance on
independent ambulation and concentrate their attention on this ability in the
treatment program .
 It is therefore extremely important that the treatment plan and its objectives – both
immediate and long-term – be communicated to both the patient and the parents.
 At birth - Gentle stretching and ROM exercises
 Passive stretching exercise followed by serial splinting with custom made
thermoplastic splints

38.  Existing joint motion to be preserved and placed in most functional position
 Stiff joints placed for functional advantage
 2 major goals
 Plantigrade standing and walking
 Restoring function of upper limb to carry out daily living activities

39. Shoulder
 Typically present with adduction and internal rotation contracture.
 Capsular releases – not helpful.
 Best – Derotation Osteotomy of humerus.
 Contraindication - Absence of pectoralis function. Children who
lack pectoralis function but retain triceps function will use an
obligatory crossover grasp pattern that requires internal rotation.
 Medial / DeltoPectoral / anterolateral / Posterior approach.
 Desired position of between neutral and 15 degrees of
internal rotation - Sufficient internal rotation should be preserved
to allow for midline function, such as perineal care

41. Humerus Ext-Rot Osteotomy
.

42.  For the child with a severe elbow extension contracture (<30 0 of elbow
flexion) distinguishing between an internal rotation contracture at
the elbow and a pronation contracture at the forearm can be
difficult.
 For these children, we will perform an elbow release first,
followed by a humeral rotational osteotomy.
 Bilateral procedures in these children rarely performed because
the margin of error is so small for losing midline function.
 Complications - Overrotation or underrotation is the most
common complication. Typically, younger children will correct for
overrotation but will not correct for underrotation

43. Elbow
 Range of motion exercises ,Early splinting & Serial casting.
 Stiff flexed – surgery not indicated
 Elbow Extension Contractures :
 One side to be treated at a time
 Posterior capsulotomy and triceps tendon lengthening
 Transfer of triceps, pectoralis, or latissimus dorsi to maintain Elbow
stability in extension.
 Steindler flexorplasty Improves active flexion if passive flexion ≥ 90 °

44. Elbow – Extension Contacture
Release
 Elbow Flexion < 30 - Caretakers and health care professionals are
discouraged from performing passive range of motion of these
elbows because inadvertent collateral ligament damage or
physeal injuries.
 Elbow Flexion > 30 - Impressive gains in elbow range of motion
can be made with Passive ROM.
 Indications for surgical release - less than 30 degrees of elbow
flexion by 12 to 18 months of age and failure to achieve
sufficient elbow flexion for self-feeding at any age.
 Contraindicated - contralateral side elbow flexion contracture that
prohibits perineal care and Absent Triceps function ( flexion contracture).

45.  Posterior approach (Dominant Hand First)– Ant.Transposition of Ulnar Nerve
 Distally based V-Y advancement – IF INADEQUATE - Turndown flap /
Autograft /allograft.
 Additional Release of Medial head of Triceps all the way upto Spiral groove
subperiostially – Helps.
 Flexion if inadequate – Perform Ant.Closed Wedge Humeral Osteotomy
proximal to Olecronon fossa.
 Release till flexion is B/W – 90 – 120 degree.
 Hour-Glass Splint Maintains the Flexion.
 Avoid Forceful Elbow Flexion – might cause Transphyseal Fractures.

46. Complications – Triceps Insufficiency and Elbow
Stiffness.

47.  In a child with passive motion who would benefit from active elbow
flexion, there are several options for achieving active flexion.
 Transfer of the entire triceps to the biceps has proven to be a poor
option.
 Transferring only the long head of the triceps – proponents of this
technique have yet to demonstrate a substantial improvement.
 Other options for restoring active elbow flexion are a Steindler
flexorplasty, a unipolar or bipolar pectoralis major transfer, a bipolar
latissimus dorsi transfer, and a free muscle transfer.
 When present, the latissimus dorsi is the best choice for restoring
active elbow flexion

48. Bipolar Latissimus Dorsi Transfer
 Contraindicated – Poor / Absent Triceps function due to previous lengthening
and Passive ROM of elbow < 90 degree.
 Expected outcome – power of 3+ and above can be achieved. It depends on
the quality of harvested LD.
 As long as the latissimus dorsi is in good condition, the
bipolar latissimus muscle transfer is a fairly reliable technique
for achieving active elbow flexion.
 Another viable option is a free gracilis with a spinal accessory
nerve transfer.

49. Wrist
 Wrist Deformities:
 Volar flexion and ulnar deviation
 Splinting shortly after birth
 Surgical indication -
 For fixed wrist contractures interfering with function
 Release of:
 Volar wrist capsule.
 Flexor Carpi Ulnaris tendon transfer to Extensor Carpi Radialis Brevis.
 Osteotomy of distal radius.
 Intracarpal extension osteotomy.
 Post-op splinting ….. to improve dorsiflexion.
 Arthrodesis - Near skeletal maturity in slight palmar flexion.

50. Radial Osteotomy With And Without Ulna
Osteotomy
 Forearm in case of Arthrogryposis – most ofen Neutral.
 It is Performed in cases of forearm pronation contracture.
 Differentiate between shoulder internal rotation contracture and forearm
pronation contracture – to avoid mismanagement.
 It is difficult to differentiate both in case of elbow contracture in extension .
 So, before doing humerus or forearm osteotomy – perform an elbow release.
 A radial osteotomy is usually sufficient for rotational correction
below 45 degrees. Beyond that, an ulnar osteotomy can be
added for corrections up to 90 degrees.
 Alternatively, a onebone forearm is more predictable and easier
to accomplish.

51.  Contraindicated - A child who requires pronation for perineal care
should not undergo a neutralization osteotomy of the forearm.
 A one-bone forearm is the most predictable operation for
correcting forearm rotational deformities. Union in children
is rapid and robust, and there is no risk of loss of correction
over time.
 Correction of a pronation deformity can be a life-changing event
if it allows the child to self-feed for the first time. If it takes
away or prohibits the acquisition of independence in the bathroom,
 Loss of forearm pronation can have lifelong consequences.

52. Carpal wedge osteotomy
 The carpal wedge osteotomy is a common upper limb procedure for
children with arthrogryposis.
 However, the indications are few and the contraindications are
many.
 Decisions about altering a child’s wrist position require a thorough
assessment of the child’s overall functional goals and limitations
 Most patients with DA tend to have wrist extension contractures,
whereas patients with amyoplasia have flexion contractures.
 Surgical interventions in the wrist and hand have not been
demonstrated to have better outcomes at a younger age,
surgery can be delayed until the child’s functional needs and
capabilities are better defined

53.  Extension contractures at the wrist are well tolerated if
the following criteria are met:
(1) Finger extension is sufficient to acquire and release objects,
(2) Forearm supination and elbow flexion are sufficient to get
food to the mouth.
(3) Forearm supination, shoulder extension, and elbow extension
are sufficient to be able to wipe the perineum from
behind.

54.  If the child has good finger extension and has sufficient pronation
and elbow flexion to reach the mouth without the need of wrist
flexion, and can perform perineal care around the back, the
most reliable procedure to provide wrist extension is a carpal
wedge osteotomy with ECU to ECRB transfer.
 The osteotomy cut should correct both wrist ulnar deviation and
flexion.
 The best candidates for this - reciprocal deformity of wrist flexion
and MP extension.
 In cases where one hand is to be used for wiping and the
other for eating, the eating hand can be considered for a
carpal wedge osteotomy.

55.  Contraindications - to correcting a child’s wrist flexion
contracture
1. Poor finger extension in maximal preoperative wrist extension,
2. Obligatory wrist flexion for hand-to-mouth movement,
3. Obligatory wrist flexion for perineal care,
4. Use of the back of the wrist for scooting along the ground
for ambulation or for balance and support during standing
or sitting.
5. Complications – Undercorrection, Loss of finger extension and increased
finger stiffness, Nonunion (rare).

58. Thumb

60. Thumb Reorientation and
Metacarpophalangeal Chondrodesis
 The classic clasped thumb in arthrogryposis consists of extension at
the first carpometacarpal (CMC) joint and flexion at the MP joint.
This is more commonly seen in distal arthrogryposis. CMC joint
generally follows the position of the wrist.
 Children with wrist flexion contractures, as are more
commonly seen with amyoplasia, typically have CMC joint
flexion contractures with the MP joint in extension.
 Surgical options should seek to place the thumb in a position
where it can best provide pinch and / or grasp, regardless of
appearance.
 Thumb reorientation osteotomy is used to correct CMC flexion.
 Thumb MP chondrodesis is used to correct MP flexion.

62.  Patients with no digital motion usually lack any active
motion in the upper extremity.
 If FPL function is preserved despite no other function - The
thumb orientation prevents useful prehension, and these patient are
good candidate for a thumb reorientation osteotomy.
 The goal of the osteotomy is to place the thumb into a position
where it can best take advantage of the child’s existing finger
and thumb motion to provide pinch and / or grasp.
 Both type 1 and type 2 thumbs benefit from a first web
space contracture release at the same time as a chondrodesis
or reorientation osteotomy.

63.  MP chondrodesis alone will not address a CMC flexion contracture. A
combination of MP chondrodesis and reorientation osteotomy may be
required.
 Using a reciprocating saw, make an incomplete transverse osteotomy
just distal to the physis.
 Referencing the thumbnail, make a second cut to create a
dorsal closing wedge at the desired angle Complete both
cuts.
 Reduce the osteotomy by extending, abducting, and pronating
the thumb

65.  The stiletto flap is the workhorse flap for the thumb in
arthrogryposis, allowing both expansion of the first web and
resurfacing of the volar MP joint.
 It is rare in these children to require only first web space
expansion - so a four-flap Z-plasty or an Abdel Ghani flap is
less often used.
 For children with fixed thumb-in-palm deformities who can flex their
fingers over the thumb, the standard operation is the Thumb MP
chondrodesis with first web space expansion.
 The functional and aesthetic gains are typically dramatic, and most
patients will ask for the same operation on the contralateral side once
they realize the results.

66.  For children whose fingers do not reach the thumb and a
thumb that does not reach the palm, pinch is not
possible without reorientation of the thumb.
 The fingers must actively flex sufficiently to reach the thumb
in its planned position in order to achieve postoperative pinch.
Contraindications –
 Fixed extension contracture at the CMC joint that would preclude
opposition after the MP chondrodesis.
 Children with stiff fingers that would not reach the thumb even
after reorientation or MP fusion are not candidates for thumb
surgery.

68. Camptodactyly Release
 Camptodactyly is more common in DA and can be a defining characteristic
of specific syndromes such as Beals syndrome (contractural arachnodactyly).
 Camptodactyly can interfere with capturing objects in the hand, with some
children developing a compensatory pinch-and-grasp pattern against the
dorsum of the contracted fingers

69.  Radiographs are not useful for camptodactyly in young children.
In older children, the condyles at the PIP joint will often
appear hypotrophic
 Children with passively correctable camptodactyly are more likely
to have well formed condyles than children with fixed flexion
contractures. In general, the more severe the condylar hypoplasia,
the less correctable the deformity.

70.  Standard treatment for camptodactyly is releasing the pterygium by
Z-plasty along with FDS tenotomy (if the FDP is functional and
the FDS is tight ).
 If the camptodactyly is passively correctable and there is good
FDS excursion, the FDS can be transferred to the lateral band
to augment the extensor mechanism.
 Results of camptodactyly release are unpredictable, despite
some favorable results in the literature.
 It is rare that a patient will be worse off, unless one is
attempting extensor mechanism augmentation.

71.  Contraindications - A relative contraindication for FDS tenotomy is
lack of the flexor digitorum profundus (FDP) and intrinsic function.
 Complications - Stiffness is the most common complication after
any camptodactyly release. Digital nerve injury and vascular injury
are possible and are most often traction injuries caused
by straightening a bent finger.

72. Summary
 Arthrogryposis remains a challenging disease for the patient, the
parents, and the treating practitioner.
 Fortunately, the initial joint contractures tend to improve over time
with stretching and splinting.
 Each child follows his or her own path, however with some
returning to full function and other less fortunate children never
developing any muscle tone.
 There is little margin for error in these children, and parents
should be aware that any surgical intervention may risk
compromising existing function.
 Surgery should be pursued only if the potential benefits in
function outweigh the potential losses.

73.  Operating on one arm at a time provides a mechanism for
the surgeon, patient, and family to judiciously assess the outcome.
 Although the options are often limited and the results of
surgery are not always predictable, helping these children
transition from dependence to independence is tremendously
rewarding.
 Sterling Bunnell’s famous words, “To someone who has nothing,
a little is a lot” particularly apply to these children.