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Polydactyly

Introduction
• History
• Classification
• Prevalence
• Genetics
• Embryology
• Surgical
Reconstruction
• Complex Polydactyly
History
• Bible
• Kerchringii 1670
• Wellman (JAMA 1972)
– North American Indians
• Multiple species
Classification
• Temtamy & McKusick (Birth Defects 1969)
– Postaxial Polydactyly Types A & B
– Preaxial Polydactyly
• Type 1: Thumb polydactyly
• Type 2: Triphalangeal thumb polydactyly
• Type 3: Index finger polydactyly
• Type 4: Polysyndactyly
Classification
• Graham & Ress (Hand Clinics 1998)
I. Polydactyly of the thumb
II. Polydactyly of the triphalangeal digits
A. Index
B. Polydactyly of the central rays
C. Polydactyly of the ulnar hand and small digit
III. Complex Polydactyly
A. Ulnar dimelia
B. Pentadactyly
C. Hyperphalangism
Radial !
!
Polydactyly
The Growing
!
Hand
Wassel
Classification
Ulnar Polydactyly
• Temtamy & MuKusik
– Type A
– Type B
• Stelling (1968) & Tureck (1967)
– Type I – rudimentary masses
– Type II – subtotal duplication
– Type III – complete extra digit
Central Polydactyly
Prevalence
• Finley et al (South Med J 1994)
– 2.3:1000 white male
– 0.6:1000 white female
– 13.5:1000 black male
– 11.1:1000 black female
– 1:1000 Sweden
• Lamb et al (JHS 1982)
– 2.4 – 27.2% all types
• Leung et al (JHS 1982)
– 39.9% - most common
Prevalence
• Wassel
– 13% among all congenital anomalies.
!
• Mellin et al (Birth Defects, 1963)
– 10.7:1000 African American
– 1.6:1000 Caucasians
Prevalence
• Radial
– Estimated 0.08 – 1.4 per 1000
• Tetmay & Mukisac (Birth Defects 1969)
• Sesgin & Stark (Plast Reconstr Surg 1961)
– Common - American Indians & Asian
– Males > Females
– Right > Left
Prevalence
• Ulnar
– Well formed – 1.24/1000
• Ruby & Goldberg (Ortho Clin North Am 1974)
– Type B – 1.88/1000
• 67% Black parents
• 24% White parents
• Male to female 1.33:1
– Watson & Hennrikus (JBJS 1997)
– 10:1 Blacks vs Non-black
Genetics
• Radial
– Spontaneous mutations
– Triphalangeal thumb – autosomal dominant
• Ulnar
– Autosomal dominant
– White children – associated syndromes
• Central
– Autosomal dominant
– Bilateral
Genetics
• BMP 7 is expressed in the perichdrium of the
developing phalanges and finger tip ectoderm.
• BMP-7 expressed at high levels in the
interdigital mesenchyme, which normally
undergoes appotosis, loss of BMP-7 likely
allows for survival of these cells. These survival
cells can then give rise to an extra digit
• Gli-3
• (Daluiski, et al JHS, 2001)
Case report
• Preaxial Polydactyly EJHS 1997
– Bakker, et al
• Leeds family
• High penetrated Autosomal dominant trait
• Linkage analysis was performed on this
family material, and the phenotype described
in this family is linked to chromosome 7q36.
number affected
• Preaxial extra ray(s) 15/15
• Thenar hypoplasia, non-opposable 8/15
• thumbs 7/15
• Opposable thumbs 2/15
• Unilateral septadactyly 2/15
• Unilateral TPT 15/15
• Preaxial polydactyly of the feet 1/15
The Growing
Hand
The
Growing
Hand
Embryology
• Fetal limb – 26th day post
• Final differentiation – 50th day
• Interdigital spaces – 37th-47th
• Stimulation of mesodermal tissue
• Homeobox or Hox genes
Surgical Reconstruction
• Radial, Ulnar, Central
• Classifications
• Factors
– Timing
– Goals
• Outcomes
Surgical Reconstruction

Thumb Duplication
• Timing – 1-2 yrs of age
• Goals
– Adequate skeletal & soft tissue
– Joint stability & motion
– Thumb alignment
– Tendon & muscle fxn
– Cosmesis
Surgical Reconstruction

Thumb Duplication
• Preoperative Considerations
– Function
– Deviation
– Joint Stability
– Duplicate Size
– Expectations
• “Two thumbs”
• Additional procedures
Surgical Reconstruction Light (Hand Clinics 1992)

Distribution of Wassel Types of Thumb


Duplication by Percentage
Type Chicago Iowa Hong Kong Osaka Paris
(n=50) (n=70) (n=95) (n=156) (n=50)

I 6 2 6 5 2
II 12 15 17 16 18
III 10 6 9 9 8
IV 44 43 46 44 54
V 4 10 12 14 0
VI 6 4 3 3 4
VII 18 20 6 9 16
Surgical Reconstruction

Wassel I & II

Type I Type II
Surgical Reconstruction

Wassel I & II
• Hypoplastic Duplicates
– Combine bones
– Reconstruct nail matrix

Bilhout-Cloquet
Wassel I & II
• Large Duplicate(s)
– Ulnar side
– Preserve collateral lig
– Centralize tendons
– Osteotomy
Surgical Reconstruction

Wassel I & II
Surgical Reconstruction

Wassel I & II
Surgical Reconstruction

Wassel III & IV


Surgical Reconstruction

Wassel III & IV


• Large Duplicate(s)
– Ulnar side
– Centralize tendons
– Collateral lig
• Hypoplastic Duplicates
– Central incision
– Osteotomies
– Soft tissues align
– Joints are stiff
Surgical Reconstruction

Wassel V& VI
Surgical Reconstruction

Wassel V& VI
• Large Duplicate(s)
– APB & FPB accessory
– Detach musculature
– Osteotomies
– Four-flap Z-plasty
• Hypoplastic
– Reconstruction of 3
bones & 3 Joints
– On-top-plasty
Surgical Reconstruction

Wassel VII
• Triphalangeal Thumb
– Several classifications
– 1:25,000 live births
– 2/3 bilateral
– 50% thumb duplication
– Reconstruction
Central Polydactyly
• Index
– Radial side – hypoplastic
– Radial deviation
– Interferes with thumb
– Radial pinch
• Long & Ring
– Failure of differentiation
– Multiple procedures
Surgical Reconstruction

Ulnar Polydactyly

• Type A
– Level of duplication
– Ulnar side ablated
– Possible lig
reconstruction
– Muscle transfers
Surgical Reconstruction
Surgical Reconstruction
Surgical Reconstruction

Ulnar Polydactyly

• Type B
– Suture ligature?
– “Nipple-like” bump
• Watson (JBJS 1997)
– Revision amputation
Complex Polydactylies
• Ulnar Dimelia
– Mirror Hand Deformity
– Absent thumb & radius
– 7 digits
– Pollicization, wrist
flexion, & tendon
transfers
Complex Polydactylies
• Pentadactlyly
– Five-fingered hand
– MC distal physis
– Triphalangeal digits
– Develop web space
– Pollicization
Outcomes
• Long-term Results of Surgical Treatment of
Thumb Polydactyly Ogino et al (JHS 1994)
– Wassel Types III, V, VI, VII
– Ulnar digit removed
– Skill of surgeon