Arthrogryposis is a condition characterized by multiple congenital joint contractures present at birth, affecting about 1 in 3,000 live births. It is caused by factors that limit fetal joint movement such as muscle or nerve disorders. Genetic and environmental factors may also play a role. Treatment involves stretching and splinting to correct contractures and surgery to improve joint mobility and function. Surgical procedures are tailored to specific joints and include soft tissue releases and osteotomies. The goals are to achieve plantigrade standing and walking and to preserve or improve existing joint motion.

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ARTHROGRYPOSISARTHROGRYPOSIS

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 comprises nonprogressive conditionscomprises nonprogressive conditions
characterized by multiple jointcharacterized by multiple joint
contractures found at birthcontractures found at birth
 1 in 3000 live births1 in 3000 live births
 Multiple congenital contracturesMultiple congenital contractures

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EtiologyEtiology
 Fetal akinesiaFetal akinesia
 Failure of skeletal muscleFailure of skeletal muscle
developmentdevelopment
 Muscle disordersMuscle disorders
 Vascular causeVascular cause
 Defective myogenicDefective myogenic
regulatory genesregulatory genes
 Pena Shokeir syndromePena Shokeir syndrome
 Viral etiologyViral etiology

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GeneticsGenetics
 SporadicSporadic
 AD / AR / XLRAD / AR / XLR
 Lethal congenital contracture syndrome (9q34)Lethal congenital contracture syndrome (9q34)
 Neurogenic type of arthrogryposis multiplexNeurogenic type of arthrogryposis multiplex
congenita (5q35)congenita (5q35)
 Arthrogryposis-renal dysfunction-cholestasisArthrogryposis-renal dysfunction-cholestasis
syndrome (15q26)syndrome (15q26)
 Lethal congenital contracture syndrome (LCCS)Lethal congenital contracture syndrome (LCCS)
type 2 (12q13)type 2 (12q13)
 A novel autosomal recessive LCCS type 3A novel autosomal recessive LCCS type 3
(19p13)(19p13)

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PathologyPathology
 Neuropathic formNeuropathic form
 Articular jointsArticular joints
 Myopathic formMyopathic form
 Articular degenerative changesArticular degenerative changes

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Family historyFamily history
 Dislocated joints / clubfeet / hyper extensibilityDislocated joints / clubfeet / hyper extensibility
 ConsanguinityConsanguinity
 Maternal and paternal ageMaternal and paternal age
 Previous abortionsPrevious abortions

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Pregnancy historyPregnancy history
 Myotonic dystrophy / multiple sclerosis /Myotonic dystrophy / multiple sclerosis /
myasthenia gravismyasthenia gravis
 Maternal infectionsMaternal infections
 Maternal fever for extended periodsMaternal fever for extended periods
 DrugsDrugs
 Oligo / polyhydramniosOligo / polyhydramnios

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Delivery historyDelivery history
 AtypicalAtypical
 Traumatic deliveryTraumatic delivery
 Abnormal placenta, membranes, cordAbnormal placenta, membranes, cord
 TwinsTwins

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Classic arthrogryposisClassic arthrogryposis
 AmyoplasiaAmyoplasia
 Intelligent / midline cutaneousIntelligent / midline cutaneous
hemangiomahemangioma
 Frequent postureFrequent posture
 Thin, atrophic extremitiesThin, atrophic extremities
 No joint creaseNo joint crease
 Sausage like limbsSausage like limbs
 Reduced joint motionReduced joint motion

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 Head and neckHead and neck
motionmotion
 Shoulder / elbow /Shoulder / elbow /
wrist / fingers /wrist / fingers /
thumb / hip / knee /thumb / hip / knee /
feet / spinefeet / spine

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Distal arthrogryposisDistal arthrogryposis
 Peripheral jointsPeripheral joints
 Type 1 – hand, feet deformityType 1 – hand, feet deformity
 Type 2a – cleft palate, shortType 2a – cleft palate, short
staturestature
 Type 2b – mitochondrialType 2b – mitochondrial
disorder, absent palm crease,disorder, absent palm crease,
ophthalmoplegiaophthalmoplegia
 Type 2c – cleft lip and palateType 2c – cleft lip and palate
 Type 2d – scoliosisType 2d – scoliosis
 Type 2e - trismusType 2e - trismus

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DifferentialsDifferentials
 150 syndromes150 syndromes
 Freeman Sheldon syndromeFreeman Sheldon syndrome
 Escobar syndromeEscobar syndrome
 Beal syndromeBeal syndrome
 Diastrophic dysplasiaDiastrophic dysplasia

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TreatmentTreatment
 Most children have good prognosisMost children have good prognosis
 May be progressive but no new joints areMay be progressive but no new joints are
involvedinvolved
 Passive stretching exercise followed byPassive stretching exercise followed by
serial splinting with custom madeserial splinting with custom made
thermoplastic splintsthermoplastic splints
 2 major goals2 major goals
 Plantigrade standing and walkingPlantigrade standing and walking

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 Existing joint motion to be preserved andExisting joint motion to be preserved and
placed in most functional positionplaced in most functional position
 Stiff joints placed for functional advantageStiff joints placed for functional advantage
 Knee and hip surgery – around 6 to 9Knee and hip surgery – around 6 to 9
monthsmonths
 Foot surgery – when patient startsFoot surgery – when patient starts
standingstanding

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1. Foot1. Foot
 Clubfoot / congenitalClubfoot / congenital
vertical talusvertical talus
 Rigid deformed toRigid deformed to
rigid plantigraderigid plantigrade
 Manipulation andManipulation and
serial casting butserial casting but
surgery eventuallysurgery eventually
needed in clubfootneeded in clubfoot
 Talectomy /Talectomy /
calcaneocuboidcalcaneocuboid
fusion / cancellectomyfusion / cancellectomy
 Triple arthrodesisTriple arthrodesis

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2. Knee2. Knee
 Initial Rx of flexionInitial Rx of flexion
contracturescontractures
 Hamstring lengthening /Hamstring lengthening /
capsulotomycapsulotomy
 Supracondylar distalSupracondylar distal
femoral osteotomy /femoral osteotomy /
femoral shorteningfemoral shortening
 Quadriceps contracture -Quadriceps contracture -
plastyplasty

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3. Hip3. Hip
 Passive stretching exercises in infancyPassive stretching exercises in infancy
 Surgically, 1Surgically, 1stst
knee correctionknee correction
 Flexion ≥ 45 → surgeryFlexion ≥ 45 → surgery
 Ideal – medial approach at about 6Ideal – medial approach at about 6
monthsmonths
 Older children – anterior approach,Older children – anterior approach,
femoral shorteningfemoral shortening
 Post op immobilization only for 6 to 8Post op immobilization only for 6 to 8
weeksweeks

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4. Shoulder4. Shoulder
 Fixed internal rotation may cause difficulty inFixed internal rotation may cause difficulty in
normal elbow and hand functionnormal elbow and hand function
 Proximal humeral rotation osteotomyProximal humeral rotation osteotomy

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5. Elbow5. Elbow
 Stiff flexed – surgery notStiff flexed – surgery not
indicatedindicated
 Goals for extensionGoals for extension
deformity – gain functionaldeformity – gain functional
ROM, active elbow flexionROM, active elbow flexion
 Lengthening of triceps,Lengthening of triceps,
posterior capsulotomy –posterior capsulotomy –
most reliable durablemost reliable durable
 Elbow stability inElbow stability in
extension to beextension to be
maintainedmaintained
 Steindler flexorplastySteindler flexorplasty

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 Triceps transferTriceps transfer
 Bipolar pectoralis transferBipolar pectoralis transfer
 Bipolar latissimus transferBipolar latissimus transfer

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6. Wrist6. Wrist
 Neutral or mild ulnar deviation +Neutral or mild ulnar deviation +
dorsiflexion between 5-20 degreesdorsiflexion between 5-20 degrees
 Closing wedge osteotomy through theClosing wedge osteotomy through the
midcarpusmidcarpus
 Wrist arthrodesisWrist arthrodesis