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  Team Member Role(s) Profile
SattAR Sattar Alshriyda Section Editor
ND Matthew Nixon Segment Author

Associations

  • 30% have other systemic problems

TAR Syndrome

  • Auto recessive
  • Thrombocytopenia and absent radius

Fanconi Syndrome

  • Auto recessive
  • Aplastic anaemia

Holt-Oram Syndrome

  • Auto dominant
  • Atrial septal defect

VACTERL Syndrome

Heikel's classification

  1. Short - address thumb
  2. Hypoplastic
  3. Partially absent-centralisation
  4. Totally absent- centralisation (most common)

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Radial longitudinal deficiency

[Image © Matthew Nixon 2014]

  • Unknown aetiology
  • Sonic hedgehog gene deficiency
  • Complete or partial ablation of pre-axial structures
  • 1 in 30,000
  • 50% bilateral
  • Opposite thumb hypoplastic
  • Radial deviation
  • Short forearm
  • Elbow stiffness
  • Missing carpal bones / digits / thumb
  • Neurovascular structures
  • Ulna short, bowed and 60% normal length

Initial

  • Counselling
  • Search for other abnormalities
  • Observation / splintage

Contra-indications to surgery

  • Other congenital conditions
  • Stiff elbow
  • Surgery moves hand away from mouth
  • Can worse function if no elbow movement

Stage 1

  • Surgery at 9-12 months
  • Centralisation of wrist onto forearm
  • Use ilizarov principles
  • Care to avoid NV structures
  • Often abnormal due to dysplasia
  • Doppler to assess arterial anatomy
  • Observe for twitch with needle probe
  • Often can avoid traditional  bilobed flap

Stage 2

  • Correction of ulna angular deformities
  • Insertion of rod along ulna to 3rd metacarpal
  • Rebalancing of wrist muscles to neutralise forces
Stage 3
  • Policisation of thumb
  • Buck-gramko procedure
  • Transfer, shortening and rotation of index finger
  • Maintainance of wrist in neutral position
  • Use of expandable rod to allow growth
  • Aim to have functioning thumb by 2-3 years

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Radial dysplasia treated with soft tissue distraction

[Image © Durai Nayagam]

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Policisation and insertion of growing rod across the wrist

[Image © Durai Nayagam]

  • Rare - 1 in 100,000
  • Fibrous analage creates deformity

Associations

  • 50% assoc with other MSK anbnormalities
  • Not with systemic problems (like radial club hand)
  • PFFD
  • Fibula hemimelia
  • Scoliosis
  • Phocomelia

Features

  • Wrist normally stable
  • Elbow normally not

Classification

  • Hypoplasia
  • Partial aplasia
  • Total aplasis
  • Radiohumeral synostosis
  • Most common

Treatment

  • Aim to create stable arm in a functional position using digital rotational osteotomies
  • May be difficult to create stable yet mobile elbow

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Ulna longitudinal deficiency

[Image © Matthew Nixon 2014]

1. Failure formation

Transverse arrest

  • Amputations (@ various levels)

Longitudinal arrest

  • Radial(pre axial)-radial club hand
  • Central-cleft hand-? madelungs
  • Ulnar(post axial)-ulnar cleft hand
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Symbrachydactyly – a form of transverse growth arrest 

[Image source and © unknown]

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Central longitudinal deficiency 

[Image source and © unknown]

2. Failure differentiation

A. Soft tissue

  • Disseminated (eg arthrogryposis)
  • Proximal (eg sprengel, poland)
  • Distal (eg syndactyly, camptodactyly)
  • Skin (eg pterygium)
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Syndactyly due to Aperts disease [image © Paul McArthur]

B. Skeletal

  • Synostosis: elbow / forearm / wrist / digit
  • Aperts - complicated syndactyly
  • Ceinodactyly
  • Kimers deformity
pic 8.PNG
 

Bony radioulnar synostosis [Image © Matthew Nixon 2014]

C. Tumorous

  • Vascular (haemangioma, AVM)
  • Neuro (NF, neuroblastoma)
  • Bony (osteochondroma, fibrous dysplasia)

3. Duplication

  • Whole limb / long bone / hand / digit
  • Polydactyly - radial/central/ulnar
pic 9.png

Polydactyly [Image © Matthew Nixon 2014]


4. Overgrowth

  • hemi-hypertrophy
  • macrodactyly
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Digit hypertrophy [Image © Paediatric Orthopaedics by Matthew Nixon Lulu publishing 2012, ISBN 978147167808]

5. Undergrowth

  • added later, many miscellaneous conditions

6. Constriction band syndrome

7. Generalised skeletal abnormalities

  • congenital RH dislocation
  • madelungs

<4 weeks

  • Limb bud appears
  • Proximal to distal growth
  • Joints form by apoptosis
  • Pronated forearm begins to supinate

7 weeks

  • 10 finger rays

12 weeks

  • Hands appears
  • Fingers develop by apoptosis of tissue around fingers

Management principles

  • Early suppresion => amelia (complete abscence)
  • Late suppresion => meromelia (partial abscence)
  • 1 in 600 live births have congenital upper limb deformity
  • Developing brain adapts to defects
  • Reconstruction before school age
  • Early surgery for progressive deformities
  • Later surgery if need cooperative rehab
  • 1 in 1000
  • Associated with cardiac abnormalities
  • May have its own metacarpal
  • Simple or complex
  • Complete or incomplete
  • Usually sporadic unless type 7

Wassel classification

  • I/II distal phalanx (bifid/dup)
  • III/IV prox phalanx (bifid/dup)- most common type
  • V/VI metacarpal (bifid/dup)
  • VII triphalangeal

Associations

  • Holt-Oram
  • Fanconi anaemia
  • Blackfan-Diamond anaemia
  • Imperforate anus
  • Cleft palate

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Wassel classification of thumb polydactyly [Image © Paediatric Orthopaedics by Matthew Nixon Lulu publishing 2012, ISBN 978147167808]

Augmentation procedures

  • Keeping one skeleton
  • Augmenting with tissues from other digit
  • Allows good size match and tissue balancing

Combination procedures

  • Remove central tissue and combine
  • Probs with stiffness, deformity, nail problems
  • Preserve bones of one and augment with soft tissues of other
  • Segmental distal transfer
  • If prox portion better on one and distal on other
  • Stack the 2 good bits on top of each other

Excision

  • if rudimentary and widely separated

Polydactyly -  central

  • Common association with syndactyly
  • May lead to angular deformities

Polydactyly - post axial

  • 10x more common in Afro-Caribbean origin
  • Autosomal dominate inheritance
  • Classification:
    1. well formed - can do formal combination procedure
    2. rudimentary skin tag - amputate around 1 year
 
  • Enlargement all structures esp nerves

Associations

  • Proteus syndrome
  • Neurofibromatosis
  • 10% assoc with syndactyly

Inglis theory

  • Abnormal nerves stimulates other tissues

Non inhereditary

  • Most commonly affects index finger
  • 90% unilateral
  • 70% more than one digit

Classification

Static

  • Present at birth
  • Linear growth with other digits

Progressive

  • Disproportionate growth

Rx

  • Multiple epiphysiodesis
  • Leave middle phalanx to preserve ROM
  • Amputate if single digit and severely affected

pic 17.jpg

Digit hypertrophy [Image © Paediatric Orthopaedics by Matthew Nixon Lulu publishing 2012, ISBN 978147167808]

 Pathology

  • Most common congenital hand anomaly
  • Auto dom, variable penetrance
  • Failure of programmed cell death
  • Absence of AERMT - apical ectodermal ridge maintenance factor
pic 18.png
 
Syndactyly release
 
pic 19.png
 
Syndactyly release

Classification

40% simple
  • Skin only
  • Partial-skin bridge falls short of tip of finger
  • complete-skin bridge to tip of finger
30% complex
  • associated with nail / bone abnormalities
  • side to side anastomosis
30% complicated
  • other bone abnormalities
  • missing / duplicated phalanges
  • delta phalanx

Associations (28 known)

Poland syndrome

  • due to subclavian artery hypoplasia
  • multiple upper limb problems
  • syndactyly and shortening of middle finger
  • abscence of middle phalanx
  • hypoplasia of hand
  • unilateral chest wall hypoplasia

Apert syndrome

  • auto dom FGFR2 gene
  • bilateral complex syndactyly of hands and feet
  • associated with craniofacial problems
1. Spade
  • thumb separate
  • simple LR,
  • complex RMI
2. Mitten
  • simple thumb
  • simple LR
  • more severe complex RMI
3. Rosebud
  • complex union all 5 digits

Demographics

  • 1 in 2000
  • 2M>F
  • 3rd web twice as likely to be involved
  • 20% bilateral
  • 20% multiple

Foot involvement

  • 33%
  • 2/3rd toes same size => will not deform each other
  • only 1st web normally released
  • fingers have size difference => causes deformity
  • also cannot hide hands

Treatment

Timing

  • aim for functioning hand by 2 years
  • avoid simultaneous release adjacent webs
  • risk of ischaemia
  • Sequence of release for multiple digit syndactyly

1st Web

  • most important
  • done at 6 months
4th Web
  • improve reach
  • done at 12 months
  • + 2nd web if involved
3rd Web
  • done last at 18 months
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FTSG
  • traditionally done routinely
  • normally only required for revision cases
  • no improvement function
  • no reduction creep
  • 30% abnormal pigmentation
Dorsal flap + zig zag to digit
  • re-creates deep web
  • less chance of creep
  • island web transfer - good for older children
 

Blaunt classification

  1. Smaller size
  2. Deficiency of some structures
  • thenar eminence = may need opponensplasty (FDS from ring finger)
  • FPL – difficult to reconstruct without recurrent stiffness
  • 1st webspace – may need double Z plasty to deepen
  • MCPJ laxity

 

- UCL only – reconstruct ligament
- Global instability – chondrodesis or fusion

3. More severe deficiency

  • bone/tendon/lig deficiencies
  • typically deficient thenar muscles
  • may also have absent scaphoid/trapzeium
- IIIA CMC present
- IIIB CMC deficient (buck gramcko modification)

- much harder to reconstruct, may be better with policisation


4. Floating thumb

  • Pouce flottant (floating thumb)
  • rudimentary appendage with small skin bridge

5. Absent

  • complete absence

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Features

  • deficient active extension

Classification

  • Supple

- absent EPL/EPB
- Rx - tendon transfer

  • Rigid

- hypoplastic extensor tendons
- MCP joint contracture
- UCL deficiency
- inadequate first webspace skin

  • notta node = = flexor tendon nodule
  • usually presents as FFD, not triggering
  • 30% bilateral

Release  when > 1 year old

 

  • only 10% resolve after this

- risk of developing MCP hyperlaxity as compensation

  • stenosis at A1 pulley
 

Features

  • curly litte finger in sagittal plane
  • PIP joint contracture

Aetiology

  • abnormal lumbrical or FDS insertion
  • collateral ligament contracture
  • general abscence of tissue development

Classification

  • I - infantile
  • II - adolescent (F>M)
  • III - multiple digit involvement

Rx

  • non-op
  • usually non op as function normal
  • reassurance and stretching
  • surgery
  • FDS to extensor transfer with ex fix distraction
  • >60 deg contracture- consider dorsal closing wedge osteotomy

Kirner deformity

  • flexed distal phalanx
  • autosomal dominant,
  • no treatment required
  • presents in pre pubertal girls

Adolescent type

  • curved little finger in coronal plane
  • trapezoid middle phalanx
  • radial deviation
  • bilateral
  • Autosomal dominant

Juvenile type

  • delta phalanx usually thumb or little finger
  • significant angulation and risk of progression
  • excision of extra bone / wedge osteotomy

Associations

  • May be presenting feature of more systemic pathology
  • seen in 25% Downs syndrome
  • Diastrophic dwarfism (Hitch-hikers thumb)

Aetiology

  • premature rupture of aminion in utero
  • amniotic bands wrap around protruding parts
  • constricting band
  • sporadic condition
  • not caused by genetics or teratogen exposure

Presentation

  • constriction rings +- distal deformity
  • acrosyndactyly of fingers or toes
  • amputation
  • clubfoot
  • may have multiple limb involvement

Rx

  • band resection
  • circumferential z-plasty
  • perform early
  • extra ulna and carpus
  • 7-8 digits, no thumb
  • excission of duplicates
  • policisation to create thumb
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