1. The document discusses various congenital hand anomalies classified using the Swanson and modified classifications. 2. Key classifications include failures of formation (transverse arrest, longitudinal arrest), differentiation (syndactyly, contractures), duplication (polydactyly), overgrowth (macrodactyly), undergrowth (hypoplastic thumb), and generalized skeletal abnormalities (Apert syndrome, Poland syndrome). 3. The modified classification organizes anomalies by malformations involving the entire limb, hand plate, or unspecified structures, as well as deformities and dysplasias. Specific conditions like symbrachydactyly, triphalangeal thumb, and brachydacty

1. CONGENITAL HAND ANOMALIES
Dr Subhakanta Mohapatra
IPGME&R,Kolkata.INDIA

2. Embryology
 Upper limb bud

Develops from lateral wall of embryo .
 On 4th wk after fertilization .
 Consists of mesodermal cells covered by ectoderm .
 Under guidance of three signaling centers:
1. AER (apical ectodermal ridge) - proximo-distal.
2. ZPA (zone of polarizing activity) - antero-posterior
growth.
3. NRE (non ridge ectoderm)(wing less type) - dorsoventral growth.

3. Swanson classification

4. SWANSON CLASSIFICATION
 Accepted by IFSSH & ASSH.
 Based on their embryologic origin & morphological
appearance.
 Expanded by Knight & Kay in 2000, & Upton in 2006.
 But recently , adequacy of this classification has been
questioned.

5. Swanson classification
 Failure of formation of parts
 Failure of differentiation or separation of
parts
 Duplication
 Overgrowth
 Undergrowth
 Congenital constriction ring syndrome
 Generalized skeletal abnormalities &
syndromes

6. 1. Failure of formation of parts
 Detected prenatally.
2 types:
A.Transverse arrest
B. Longitudinal arrest:
 radial club hand (pre-axial arrest)
 ulnar club hand (post-axial arrest)
 cleft hand (central arrest)
 phocomelia (intercalary arrest) – an
intervening segment of limb is absent.

7. A. Congenital transverse arrest
 Rare, always U/L.
 Sporadic / environmental.
 Level defined by skeletal absence.
 Commonly at level of proximal forearm.
 Defect in AER signaling
 Lt > Rt
 2 groups:
 defect in limb formation
 Intrauterine amputation after limb formation
 Most will not require surgery, but benefited
from prosthesis if referred early.

8. B. Longitudinal arrest
i) Phocomelia (seal limb)
 Intercalary arrest
 Intervening segment of limb is absent (arm/forearm)
 Thalidomide in 1st trimester
 Type I (complete) - hand directly attached to trunk
Type II (proximal) – short forearm attached to trunk.
Type III (distal) – short humerus attached to hand.
 Surgery – very little role.

9. ii) Radial ray dysplasia (aka: Radial club hand/Preaxial
deficiency/Longitudinal radial deficiency)
 Radially deviated, flexed hand with pronated and
shortened forearm.
 Deficient thumb ray & carpal bones (scaphoid &
trapezium), radial nerve & vessels
• Normal ulnar two digits
• Median nerve subluxed towards concave side.
 Commonly associated with syndromes (e.g. VATER,
TAR, Holt oram)
 U/L , M>F , Rt>Lt .
 I –Short radius
II – Hypoplastic radius
III – Partial absence of radius (replaced by anlage)
IV – Complete absence of radius – most severe &
common.

10. Radial ray dysplasia

11. Bayne & Klug classification of radial
longitudinal deficiency

12. iii) Ulnar ray dysplasia (aka: Ulnar club
hand /Postaxial deficiency)
 Rarest of longitudinal ray deficiency.
 Association with syndromes – uncommon
 Disruption of ZPA signaling.
 Short,bowed radius with a hypoplastic or absent
ulna.
 Elbow severely affected (with a relatively stable
wrist).
 M>F , Lt>Rt , U/L>B/L.

13. Bayne
classification
 I – Ulnar
hypoplasia
 II – Partial ulnar
aplasia
 III- Total ulnar
aplasia
Paley & Herzenberg
classification
 I – Ulnar hypoplasia with intact
distal epiphysis
 II – Partial ulnar aplasia (distal
1/3rd )
 III – Partial ulnar aplasia (distal
2/3rd )
 IV – Total ulnar aplasia
 IV – Radiohumeral
synostosis
 V – Radiohumeral synostosis

14. Bayne & Klug classification of ulnar
longitudinal ray deficiency

15. iv) Central ray deficiency /cleft
hand
 Most common longitudinal deficiency.
 Defect in AER signaling.
 B/L (frequently).
 Structures proximal to wrist – normal.
 Little finger – always present
 Associated syndactyly & narrow web space.
 Complex syndactyly (thumb & index) – in severe
case.
 Hand – “functionally good but aesthetically a
disaster‟‟.
 Association with cleft feet in 1/3rd cases (SHSF)
 Other Syndromic associations: EEC
syndrome(ectrodactyly, ectodermal dysplasia,

16. Atypical cleft
hand
Typical cleft hand
 Deep V shaped central








defect
Bilateral
Inherited (AD)
Cleft feet associated
Hypoplasia of long ray
Thumb involved
Associated cleft lip/palate
No chest wall
involvement
Little finger – only digit
 Shallow U shaped








defect
Unilateral
Sporadic
Not
Rays of central 3 digits
Rarely
No
Seen in Poland
syndrome
Thumb - only digit

17. Typical cleft hand with central deep V
shaped cleft

18. Manske‟s classification of cleft
hand
 Type I – Normal 1st web
• Type II
A – mildly narrowed web
B – severely narrowed
 Type III – Syndactylised web
 Type IV – Merged web
 Type V – Absent web
A – Partial suppression of
radial ray
B – Complete suppression of
radial ray

19. 2. Failure of differentiation or separation of parts
A. Syndactyly
 One of the most common congenital hand
malformations.
 3rd web > 4th web > 2nd web
 Association – Poland, Apert syndrome.
 Complicated syndactyly –
 More than only distal bony fusion
 Abnormal bone structure inside .
(fusion ,missing bone, abnormal joints,
rudimentary bones ,cross bones)
 Seen in Apert syndrome,
Central synpolydactyly
Typical cleft hand

20. Complex & complicated
syndactyly

21. B. Contracture
i) Clinodactyly (inclined finger)
Radio ulnar deviation of digit ( >
10 ) distal to MCPJ.
Most common –
Radial deviation of little finger
at DIP.
(Middle phalanx of little finger
– last
bone to ossify)
2nd most common –
proximal phalanx of thumb
Due to Delta phalanx( a
trapezoid shaped middle phalanx

22. ii) Camptodactyly (arched finger)
 Painless, progressive flexion Contracture of
PIPJ
( antero posteriorly)
 Due to imbalance in flexors
& extensors
 Little finger (>70% cases)
 3 types:
type I . newborn (M=F)
type II. adolescent females
type III. Multiple digits/with
syndromes

23. iii) Congenital trigger thumb
 Stenosing tenosynovitis of FPL tendon at A1 pulley .
 Fixed flexion of IPJ (thumb locked in flexion).
 “Notta node” – palpable nodule over flexor aspect of
MCPJ of thumb proximal to A1 pulley.
 Snapping/popping as the nodule passes beneath A1
pulley
 Compensatory hyperextension at MCPJ.
 Frequently B/L.

24. iv) Congenital clasped thumb
 Deficient thumb extensor mechanism.
 Mild clasped (type I) – deficiency of EPB .
Extension lag at MCPJ.
 Severe clasped (type II) – deficiency of EPB & EPL
Extension lag at both MCPJ & IPJ.
 Type III – clasped associated with arthrogryposis

25. v) Kirner’s deformity
 Progressive palmar radial curvature of the
distal phalanx of little finger.(deviation in 2
planes)
 Distortion & widening of physeal plate along
with curvature of the diaphysis of the distal
phalanx.

26. vi) Arthrogryposis
 Non progressive multiple congenital joint contracture
 Elbow – most commonly with lack of flexion.
 Amyoplasia – classic type
symmetric limbs
shoulder- adducted ,
internally rotated
elbow –extension
forearm- pronation
wrist – flexion
hand – ulnar deviation
thumb – flexed, adducted
fingers - flexed

27. vii) Synostosis
 Union of two or more adjacent bones.
 Associated with other conditions.
 Symphalangism in Apert syndrome.
 Metacarpal, carpal,radio ulnar synostosis are rare.

28. 3. Duplication
A.Polydactyly
 Most common congenital anomaly in upper
extremity .
 Radial (preaxial)/central/ulnar(postaxial).
Radial polydactyly Ulnar polydactyly
1. Asians
2. Isolated
3. U/L
4. Wassel
classification
type I – VII
type IV – most
common(50%)
1. Africans
2. syndromic
3. B/L
4. Temtamy &
McKusick
Type A - well
formed
Type B rudimentary

30. 4.Overgrowth
A. Macrodactyly
• Rare
• Misleading term
• „Digital nerve oriented
neurofibroma‟ – correct
term
• Whole finger
clinodactyly if one digital
nerve involved.
• Syndactyly may
coexist.
• Flatt’s classification Type I –

31. 5. Undergrowth
A. Hypoplastic Thumb
Blauth Classification
 Type I – mild hypoplasia (all structures present)
 Type II – moderate hypoplasia (thenar muscles
absent)
 Type III –severe hypoplasia (skeletal hypoplasia)
A – stable CMC joint B – unstable CMC joint.
 Type IV – floating thumb (pouce flottant) [only soft
tissue bridge].
 Type V – aplasia
Additional 5 categories
 Type VI – central deficiency (cleft hand)
 Type VII – constriction ring syndrome
 Type VIII – five fingered hand
 Type IX – radial polydactyly
 Type X – syndromic short skeletal thumb ray

32. Blauth classification (thumb
hypoplasia)

33. B.Madelung’s deformity
 Radial & palmar angulation of distal radius
 Ulnar & palmar part of distal radial physis –growth
disturbance point.

34. 6. Constriction band syndrome
(streeter’s dysplasia)
 Quite common
 Etiology- constricting amniotic band &
intrinsic causes have been proposed
 Patterson clasificationa. simple constrictions (partial/circumferential)
b. Constrictions with distal deformity (lymphedema
+/-)
c. Constrictions with acrosyndactyly characeristic.
(Fenestrated syndactyly)
a. Intrauterine amputation

36. 7. Generalized skeletal
abnormalities
 Most common – multiple exostoses.
 Others –

Poland syndrome(symbrachydactyly)
 Apert syndrome(complex syndactyly)
 Haas syndrome
 Freeman Sheldon syndrome (wind blown
hand)
 Mohr Wriedt syndrome (radial clinodactyly of
index finger)
 Pierre – Robin syndrome (clasped thumb)

37. A. Apert
syndrome(acrocephalosyndactyly)
 Characterised by
1. Craniosynostosis .
2. Acrosyndactyly .
3. Symphalangism
(2nd , 3rd , 4th finger)
4. Radial clinodactyly of
thumb.
5. Simple syndactyly of 5th
finger (4th web)
 Upton classification –
Type I – Spade / obstetrician hand
(thumb & little fingers are free)
Type II – Mitten / spoon hand
(only thumb is free)
Type III – Rosebud / hoof hand
( all fused)

38. B. Haas syndrome
• Presence of 6 metacarpals is
characteristic
• >5 digits
• all having 3 phalanges

39. C. “Wind blown hand” in Freeman
sheldon syndrome
• Severe hyperflexion of fingers at
MCPJ with ulnar deviation .
• Due to metacarpal bone
shortening.
• “Whistling face” syndrome

40. Modified Classification

41. Modified classification of congenital
anomalies of hand & upper limb
I. Malformation
A.Failure in axis formation & differentiation – entire
upper limb
B.Failure in axis formation & differentiation – hand
plate
C.Failure in hand plate formation & differentiation –
II. Deformations –
unspecified axis Constriction ring syndrome
1.
III. Dysplasias
1.Macrodactyly
2.Limb hypertrophy
3.Tumorous conditions

42. A. Failure in axis formation & differentiation – entire
upper limb
Radio – ulnar axis
Dorso
Proximo – distal
ventral axis
axis
1.Symbrachydacty 1.Radial longitudinal 1.Nail
deficiency
ly
patella
2.Ulnar longitudinal
2.Transverse
syndrome
deficiency
deficiency
3.Intersegmental 3.Ulnar dimelia
4.Radio - ulnar
deficiency
synostosis
5.Humero - radial
synostosis

43. B. Failure in axis formation &
differentiation – hand plate
Radio-ulnar(AP)
axis
1.Radial polydactyly
2.Ulnar polydactyly
3.Triphalangeal
thumb
Dorsal vental axis
1.Dorsal dimelia
(palmar nail)
2.hypoplastic/aplasti
c nail

44. C. Failure in hand plate formation &
differentiation –unspecified axis
Soft
Skeletal
tissue
1.Syndacty 1.Brachydactyly
ly
2.Clinodactyly
2.Campto- 3.Kirner‟s
dactyly
deformity
3.Trigger 4.Metacarpal &
digits
carpal
synostoses
Complex
1.Cleft
hand
2.Synpolydactyly
3.Apert
hand

45. Symbrachydactyly
 Type 1- triphalangeal type
 Type 2 – diphalangeal type
 Type 3 - monophalangeal type
 Type 4 – aphalangeal type
 Type 5 – ametacarpia type
 Type 6 – acarpia type
 Type 7 – forearm amputation type

47. Types of symbrachydactyly
Short finger
peromely
atypical
cleft hand
monodactyly

48. Dorsal dimelia of little finger
 Failure in axis formation & differentiation in hand
plate
 Involves dorso ventral axis.
 Non ridge ectoderm – signaling centre.
 Palmar nail.

49. Triphalangeal thumb
 AD
 Extra phalanx of variable size, variable
shape(triangular/trapezoid/rectangular)
normal appearing thumb
 Fully developed extra phalanx lying in the finger
plane
- considered as five fingered hand
- absent thumb with index polydactyly

50. Brachydactyly
Bell’s classificationA. Brachymesophalangy
B. Apical dystrophy
C. Drinkwater type
D. Brachymegalodactyly
( stub thumb)
E. Brachymetacarpia
• Mohr – Wriedt syndrome –
Radial deviation (clinodactyly) of index
finger due to brachydactyly(middle
phalanx of index)
•

51. Bell‟s classification

52. Mirror hand / ulnar dimelia
 Rare
 Symmetric duplication of the limb in
midline
 A central digit with 3 digits (long, ring,
little) on either side
 Total 7 digits , but thumb is absent.
 2 ulna, no radius (ulnar dimelia)
 Due to transplatation/replication of ZPA

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