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)

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

• 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

Radial dysplasia treated with soft tissue distraction

[Image © Durai Nayagam]

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

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

2. Failure differentiation

A. Soft tissue

• Disseminated (eg arthrogryposis)
• Proximal (eg sprengel, poland)
• Distal (eg syndactyly, camptodactyly)
• Skin (eg pterygium)

B. Skeletal

• Synostosis: elbow / forearm / wrist / digit
• Aperts - complicated syndactyly
• Ceinodactyly
• Kimers deformity

C. Tumorous

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

3. Duplication

• Whole limb / long bone / hand / digit
• Polydactyly - radial/central/ulnar

4. Overgrowth

• hemi-hypertrophy
• macrodactyly

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

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

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

• 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

 

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

- 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

- 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

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

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