Presentation

2. • Early Embryology
• Definition of bodies
• Swanson classification

3. • Limb formation begins relatively late in gestation
after the basic body plan has taken shape. The
limb buds are first visible along the embryonic
flanks in the middle (upper) and end(lower) of
the 4th week.
• The activation of mesenchymal cells derived from
lateral mesoderm (to form the limb field) appears
to be the crucial step.
• Indeed the skeletal structures of the limbs are
derived from this mesoderm as opposed to the
somitic sclerotomes that form the rest of the
skeletal system from the neck down.

5. EMBRYOLOGY
• Onset of development of arm bud - 27 days
4th week
• Well-developed arm bud - 28-30 days
• Elongation of arm bud - 34-36 days
5th week
• Formation of hand paddle - 34-38 days
• Onset of finger separation - 38-40 days
• Full separation of fingers - 50-52 days
7th week

6. • Limb buds have a specialized distal
ectodermal region at the
dorsal/ventral margin called the
apical ectodermal ridge (AER), which
signals to the underlying mesoderm
called the Progress zone.
• Limb development occurs as a result
of the continuous interactions
between the ectodermal and
mesodermal components of the bud.

7. • It is not currently known what is the primary
signal for initiation of limb buds, but based on
model systems that can be manipulated
experimentally FGF 10 is a good candidate.
• FGF 10, a member of the FGF family of growth
factors is secreted locally from axial structures in
the specific regions adjacent to the limb buds,
apparently dictated by the HOX gene expression
pattern of those segments.
• FGF 10 when implanted ectopically can induce
the formation of accessory limbs. Moreover,
targeted gene ablation of FGF10 results in amelia
(No limbs).

8. • The AER is required for limb outgrowth.
• Removal of AER results in a stunted limb whose
development is arrested shortly thereafter. However
segments that have begun to form continue to do so
reasonably normally.
• The AER produces FGF 8 at an early stage, and thus
seem to take over the function from the axial
structures that initiate limb bud formation.
• Later, production of several different FGFs including
FGF2, 4, 9 and 17 by the AER appears to be necessary
for maintenance of limb development.

9. • Once initiation has occurred and migration of
mesoderm has begun, the limb field develops
independently of any signals from the axial
region.
• The AER is though to take over the function of
maintaining the limb bud.

10. • The mesoderm in the PROGRESS ZONE, just
underneath the AER is thought to be the most
important determinant of the actual limb
structures that will form.
• These mesodermal cells determine whether
for example, leg or arm structures will form.
• The formation of arm vs. leg structures
appears to be set in the progress zone
mesoderm very early by cues from the axial
skeleton.

11. • Finally, there is a time dependent change in
the cells of the progress zone that determines
the type of structures that can be formed in
the proximal-distal axis.
• Superimposed on all of these is the expression
of specific transcription factors that mediate
the cellular programs of differentiation, one of
which is the retinoic acid receptor family of
transcriptional regulators.

12. • A family of transcription factors, one specific
for arm and a related one for leg, are turned
on in the limb buds and appear to be
important in the arm/leg distinctions.
• In general, most of the GFs and TFs produced
are similar in the Upper and lower limb buds.
• The mesoderm in the progress zone is also
thought to set the time clock for the proximal
distal axis. Cells leaving this region are fixed in
their developmental potential and those
leaving earlier have different capabilities than
those leaving later on.

13. • Limb development occurs in dimensions, each
controlled by a separate process and different
growth factors.
• First is the proximal distal Axis, initiated by
signals from axial structures, including the
secretion of FGF, and later maintained by the
AER.
• FGF gene: Produced at apical ectodermal
ridge. Stimulates mitosis of underlying
mesoderm, providing for lengthening of limbs.

15. • Second there is the anterior posterior axis that
specifies the position of the thumb versus little
finger, for example
• A region located along the posterior side of the
limb bud called the Zone of polarizing activity
(ZPA), controls the anterior-posterior process.
This zone produces SHH gene which is critical for
its function.
• Sonic hedgehog gene: Produced at base of limbs
in zone of polarizing activity. Involved in
patterning along anterior-posterior axis. Involved
in CNS development; mutation can cause
holoprosencephaly.

16. • The ZPA is located in the posterior mesoderm.
• It is responsible for establishing polarization along the
A-P axis.
• SHH Gene produced by the ZPA is necessary for its
function.
• SHH production is sustained by FGF produced by AER.
• The signals from the ZPA promote a shift from the
proximal to distal pattern of the HOX gene transcripts
to an anterior-to-posterior pattern.
• It is clear that the HOX gene expression is critical for
cells to understand the positional information they are
receiving during development.

18. • Third there is the dorsal/ventral axis, which
involves the ectoderm and a growth factor of
the WNT family.
• Wnt-7 gene Produced at apical ectodermal
ridge (thickened ectoderm at distal end of
each developing limb). Necessary for proper
organization along dorsal-ventral axis.

19. .
• Directed by the ectoderm skin from back of palm
is different from that on the back.
• It is possible to detach the ectoderm from the
mesoderm in a limb bud.
• The dorsal ectoderm produces the growth factor
Wnt7, a member of the Wnt family which has
been shown to be necessary for dorsalization.
• Ectopic expression of Wnt7 can dorsalize a ventral
surface and ablation of Wnt7a results in
ventralization of the dorsal limb.

20. • Wnt7a signaling from the ectoderm is critical for
the dorsal expression of the transcription factor
Lmx1b in the distal mesenchyme.
• Lmx1b is the gene defective in human nail-patella
syndrome - xterised by abnormal development of
dorsal limb structures, such as nails and patella.
• Engrailed-1, another TF, is expressed in the
ventral ectoderm and is required for specifying
ventral limb fates by repression of the dorsalizing
genes WNT7a and indirectly Lmx1b.

21. • Perhaps most important is the regional
expression of HOX(Homeobox) gene family
members (paralogues). As was true in the
axial region of the embryo, HOX genes encode
transcription factors that control the
formation of particular structures (e.g. type of
digit) in specific regions of the limb.
• Homeobox (Hox) genes: Involved in segmental
organization of embryo in a craniocaudal
direction. Hox mutations = appendages in
wrong locations.

22. • Finally, the differentiation of the mesoderm
into the various tissues inside the limb= bone,
cartilage, muscle, CT, and blood vessels, are
controlled by another series of growth factors.
• Bone Morphogenic Proteins (BMP’s) initially
play a role downstream of SHH in patterning
the A-P axis of the limb and then later
function to induce cartilage and bone
formation.
• It is fairly obvious that the development of the
limb has implications not only for congenital
malformation of the limbs, but also for tissue
regeneration and wound healing processes

23. • These cells have received specific positional
information that will determine the type of
tissue they will become.
• This is best illustrated when an older limb bud
is substituted for a younger one. Only distal
structures are produced. It is too late for the
proximal structures to form.
• Conversely when a young bud is grafted into
an old stump, the proximal structure are
duplicated.

24. Axis Signaling Center Molecular signal
Proximal/Distal
FGF 17
Apical Ectodermal Ridge
Limb mesenchyme
FGF2, FGF4,FGF8, FGF9
FGF10
Anterior/Posterior Zone of polarizing
activity
Sonic Hedgehog, BMP’s
Dorsal-Ventral Dorsal ectoderm
Dorsal mesenchyme
Ventral ectoderm
WNT7a
LMX1b
Engrailed-1

25. Summary of 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) - proximal-
distal.
2. ZPA (zone of polarizing activity) – anterior-
posterior growth.
3. NRE (non ridge ectoderm)(wing less type) -
dorso-ventral growth.

26. • Mesoderm: blood vessels, muscle, bone,
connective tissue and cartilage.
• Lateral plate mesoderm migrating into the
region can only make certain tissue: blood
vessels, connective tissue, bone, cartilage
• Somitic Myotomes make the muscle masses.
• All bones in the limbs initially form as cartilage
models and ossify as endochondral bones.

27. • ASSH: American society for surgery of the hand
• IFSSH: International federation of societies for
surgery of the hand
• ISPO: International society of prosthetics and
orthotics
• Pre-axial: refers to the lateral/radial aspect of the
forearm
• Post-axial: refers to the medial/ulnar aspect of
the forearm
• Central: when there is absence of digits or
metacarpals in the central region of the hand.

28. Diagnosis before birth
Antenatal diagnosis by ultrasound is
increasingly possible, particularly in cases
of aplasia.
This will prepare the parents for the
deficiency before birth.

29. SWANSON Classification
• The IFSSH proposed a 7 categories
classification based on the proposed
classification of Swanson et al in 1976.
• This classification was based on
etiopathogenic pathways.

30. 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.

31. Swanson classification
• Failure of formation of parts (Transverse or
Longitudinal)
• Failure of differentiation or separation of parts
• Duplication (Polydactyl)
• Overgrowth
• Undergrowth
• Congenital constriction ring syndrome (Amniotic
band syndrome).
• Generalized skeletal abnormalities & syndromes

32. 1. Failure of formation of parts
• Detected prenatally.
2 types:
A. Transverse arrest
 Complete deficiencies
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.

33. 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 benefit from
prosthesis if referred early. Recently developed
myoelectric prostheses enable muscle action to trigger
the prosthesis.

34. B. Longitudinal arrest
I) Phocomelia (seal limb)
• Intercalary arrest
• Absence of the entire UL Is termed Amelia.
• Phocomelia on the other hand is used when a functional
terminal unit is present.
• Intervening segment of limb is absent (arm/forearm)
• Thalidomide in 1st trimester (an anti-emetic)
• Type I (complete) - hand directly attached to trunk
(absence of forearm and arm)
Type II (proximal) – short forearm(with the hand attached to
it) attaches to trunk (absence of arm).
Type III (distal) – short humerus attached to hand i.e. hand is
attached to the arm at the elbow (absence of forearm).
• Surgery – very little role.

36. Pre-axial Deficiencies
• Include a variety of conditions varying from minor
abnormalities of the thenar muscles to complete absence of
pre-axial (radial/lateral structures.
• Most common presentation of pre-axial deficiency is radial
club hand.
• The term radial club hand comprises a spectrum of disorders
consisting of a
Dysplastic radial bone including a radially deviated flexed
hand
Absence of scaphoid and trapezium
And either a Hypoplastic or absent thumb
• Unilateral or bilateral but rarely occurs symmetrically on both
sides.
• Incidence 1:30,000 (M) and 1:100,000 (F)live births.

38. ii) Radial ray dysplasia (aka: Radial club hand/Pre-axial
deficiency/Longitudinal radial deficiency)
• Clinical features of radial club hand include:
 Radially deviated, flexed hand with pronated and
shortened forearm
 The radius is either partially or completely absent,
being replaced by fibrous band (anlage)
 The thumb is either absent or Hypoplastic
 Hypoplasia of other radial structures such as the
scaphoid, trapezium, 1st metacarpal, radial artery,
superficial branch of the radial nerve and radial-sided
musculature.
 Stiffness of the elbow due to synostosis (bony fusion)
 Stiffness of the fingers due to stretching of the tendons
caused by radial deviation of the hand.

39. • Normal ulnar two digits
• Median nerve subluxed towards concave side.
• U/L , M>F , Rt>Lt .
• Radial club hand (and pre-axial deficiencies in general)
is associated with a variety of syndromes affecting the
CVS, GIT and hematological systems:
 Holt-Oram syndrome: cardiac abnormalities,
commonly septal defects and radial club hand
 VATERR Syndrome: also referred to as VACTERL;
consists of Vertebral anomalies, anal atresia, Cardiac,
Esophageal, Renal and Limb anomalies.
 TAR syndrome: thrombocytopenia @ birth which
improves with time and radial club hand
 Fanconi Anemia: Aplastic anemia which develops at
around 6 years of age and radial club hand.

40. Classification…(O’Rahilly, Bayne &
Klug)
• I –Short distal radius with no radial bowing or
deviation; Mildest type; No Rx.
II – Hypoplastic radius (Rare); No Rx.
III – Partial absence of radius (replaced by
anlage); Most common; centralization
procedure required
IV – Complete absence of radius – most severe
& second most common. Requires soft tissue
release and centralization.

42. Radial ray dysplasia

43. Bayne & Klug classification of radial longitudinal
deficiency

44. RADIAL CLUB HAND

45. Bayne & Klug classification of radial
longitudinal deficiency

46. • Maternal drug exposure, compression of the
uterus, vascular injury, ?Apical Ectodermal Ridge
(AER) Defect.
• Treatment of radial club hand (and pre-axial
deficiencies in general) is dependent on the Px. Age,
severity of deformity and extent of functional deficit.
• Conservative Mgt. Vs. Surgical mgt.
• Conservative mgt. which include Splints, casts and
passive stretching techniques which helps to reduce
stiffness and maintain soft tissue length.
• Surgical Mgt. which includes soft tissue release,
centralization and radialization procedures, thumb
reconstruction via pollicization and tendon transfers.

47. iii) Ulnar ray dysplasia (aka: Ulnar club hand
/Postaxial deficiency)
• Rarest of longitudinal ray deficiency.
• Compared to radial club hand, has a larger spectrum of
abnormalities ranging from minimal hypoplasia of the
ulnar digits to total absence of the ulna.
• Short, bowed radius with a Hypoplastic or absent ulna.
• AD pattern of inheritance.
• Association with syndromes – uncommon
• Disruption of ZPA signaling.
• Elbow severely affected (with a relatively stable wrist).
• M>F , Lt>Rt , U/L>B/L.

48. Ulnar club hand differs from radial club
hand in a number of key ways..
Ulnar Club hand Radial Club Hand
• Elbow joint is unstable
while the wrist is stable
• Ulnar is typically only
partially absent
• Wrist is unstable while
elbow is either stiff or
stable.
• Radius is usually totally
absent.
• Syndromic associations
are rare, but if they do
occur involve the MSS
• Syndromic associations
are common and always
involve either the
cardiac, GIT or
hematological systems.

49. Classification
• The most commonly used classification for ulnar
club hand is that which has been proposed by
Bayne.
Type 1: hypoplasia of the ulna with minimal
deformity.
Type 2: partial absence of the ulnar
Type 3: total absence of ulnar with anlage and a
normal radiohumoral joint.
Type 4: radius is fused to the humerus with no
elbow joint (radiohumoral synostosis)

50. Bayne
classification
Paley & Herzenberg
classification
• I – Ulnar hypoplasia
• II – Partial ulnar
aplasia
• III- Total ulnar aplasia
• IV – Radiohumeral
synostosis
• 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
• V – Radiohumeral synostosis

51. Bayne & Klug classification of ulnar
longitudinal ray deficiency

52. • Involves hand therapy and splinting to
improve the range of motion.
• Surgical intervention where appropriate
• Surgery usually involves release of the fibrous
anlage and realignment of the carpus and
forearm.

53. iv) Central ray deficiency /cleft
hand
• Involves an absence of digits or
metacarpals of the central portion of the
hand.
• Most common longitudinal deficiency.
• Defect in AER signaling.
• B/L (frequently).
• Divided into typical and atypical types.
• Structures proximal to wrist – normal.
• Little finger – always present
• Associated syndactyly & narrow web
space.

54. • Complex syndactyly (thumb & index) – in
severe case.
• Hand – “functionally good but aesthetically a
disaster’’.
• Association with cleft feet in 1/3rd cases
(absence of the 3rd toe of the foot) (SHSF)
• Other Syndromic associations: EEC
syndrome(ectrodactyly, ectodermal dysplasia,
cleft lip/palate)

55. Typical cleft hand Atypical cleft hand
• Deep V shaped central defect
• Bilateral
• Inherited (AD)
• Cleft feet associated (3rd toe of
foot)
• Partial or complete absence of
the middle finger (central ray) in
the hand.
• Thumb involved
• Associated cleft lip/palate
• No chest wall involvement
• Little finger – only digit
• No finger nubbins (buds)
• Shallow U shaped defect
• Unilateral
• Sporadic
• Not associated with cleft feet
• Rays of central 3 digits(index,
long and ring fingers)
• Rarely involves thumb
• No associated cleft lip/palate
• Seen in Poland syndrome
• Thumb - only digit
• Finger nubbins may occur
• Now recognized as a form of
symbracydactyly.

56. Typical cleft hand with central deep V shaped
cleft

57. 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

58. • Where possible is via surgical intervention to
improve cosmesis and function.

59. • Soft tissue
1. Syndactyly
2. Camptodactyly
3. Trigger thumb
4. Clasped thumb
• Skeletal
1. Clinodactyly
2. Symphalangism
3. Synostosis
4. Arthrogryposis
5. Windblown hand

60. • The term “SYN” is derived from Greek and
means “together” while “dactyly” is also
derived from the Greek term “dactylos” which
means “digits”.
• Both of them used together describes a
condition where the fingers of the hand are
joined together.
• Syndactyly is thought to be caused by a failure
of programmed cell death (apoptosis) in the
interdigital tissue.

61. • When all the different varieties of Syndactyly
are counted together, it becomes the most
common congenital deformity of the hand.
• Incidence of 1 in 1000-2000 live births.
• Males > female
• 30% Bilateral
• 20% of cases have a positive family history.
• Thought to be associated with at least 28
other syndromes including Apert’s and
Poland’s syndrome.

62. • 3rd web > 4th web > 2nd web
• Foot may also be affected, with the commonest form being
an incomplete second web space syndactyly.
• Syndactyly is classified as follows:
1. Complete: digits are fused together up to the level of the
tips of the fingers
2. Incomplete: fusion of the digits does not reach up to the
level of the fingers.
3. Simple: connection between the digits only involves soft
tissue.
4. Complex: in addition to soft tissue connections, there are
also bony connections between the fingers.
5. Acrosyndactyly: there is distal soft tissue and bony
connections (i.e. complex Syndactyly) but proximally the
web space is present to a degree, resulting in small spaces
referred to as fenestrations.

63. • 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

65. Complex & complicated Syndactyly

66. • Involves surgical correction of deformity.
• Goals of surgery include:
a. Separation of the digits
b. Creation of a web space
c. Skin coverage
d. Immobilization and avoidance of scars.
The timing of surgery depends on the deformity.
• Surgery to release fingers of unequal length, such
as the ring and the little finger, thumb and index
finger, maybe carried out as early as 6 months.

67. • Complex and Acrosyndactyly are also often
released early as the bone to bone
connections between the digits may adversely
affect growth.
• Most other less severe deformities can be
deferred to age 12-36 months.

68. A number of surgical techniques exist but most
share the following principles
• If several digits are involved, the border digits are
released first.
• If a digit is joined on both sides a single stage
release procedure to separate that finger should
be avoided as this may adversely impact finger
vascularity.
• Zigzag incisions should be used and straight line
incisions avoided along the borders of digits to
reduce the likelihood of scar contracture which
may lead to digital deformity.

69. • A proximally based dorsal flap is usually used
to reconstruct the web space as skin grafts in
this area may cause a partial recurrence of
Syndactyly
• Defects along the borders of the digits are
closed via volar and dorsal interdigitating
flaps.
• Any other resultant defects are closed via
FTSG
• Skeletal abnormalities need to be corrected.
• Reconstruction of a normal nail fold.

70. )
• Congenital flexion deformity of the PIPJ.
• Painless, progressive flexion Contracture of
PIPJ( antero-posteriorly).
• Most commonly involves the little finger (70%)
although other fingers could be involved.
• Presents at two distinct time periods:
Infancy – 1-4 yrs. with an equal sex incidence
Adolescence – 10-14 yrs. Occurs more
commonly in girls.

71. • 3 types:
type I . newborn (M=F)
type II. adolescent females
type III. Multiple digits/with
syndromes

72. • Almost every structure in the region of
PIPJ has been implicated in the
pathogenesis of camptodactyly although
the most common causes seem to be:
 Either an abnormal lumbrical insertion
 An abnormal flexor digitorum
superficialis (FDS) insertion.
 Or simply Due to imbalance in flexors &
extensors

73. .
• Initial Rx. Is conservative – splinting and
stretching.
• If conservative mgt. fails or there is a rapidly
progressing deformity of the finger, then surgical
intervention is considered.
• Surgery can be deceptively complex and may
involve
1. Release of any anomalous lumbricals or
lengthening of a tight FDS
2. Agulation osteotomy or arthrodesis of the joint.

74. • Presents in infants with similar clinical features to
that in adults
• Includes a thumb that clicks, catches or locks as the
Interphalangeal joint moves from a flexed to an
extended position.
• IP joint is usually held in a flexed position by the
child.
• 25% present at birth; 25% are B/L
• 30% resolve spontaneously by 1 yr. of age
• Nodule known as “Notta’s node” is usually palpable
over the flexor aspect of the MCP joint of thumb
proximal to A1 pulley.

75. • Snapping/popping as the nodule passes beneath
A1 pulley.
• Stenosing tenosynovitis of FPL tendon at A1
pulley
• Compensatory hyperextension at MCPJ.

79. • Initially stretching exercises + splintage are
used.
• If above fails, surgical release of the A1 pulley
is carried – provides excellent result with few
complications.

80. 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

81. • Splintage in ext. for up to 6 months
• If conservative Rx. Fails or there is significant
adduction contraction, release of the first web
space may be indicated.
• Tendon transfers, tendon grafts and
arthrodesis may be indicated in more severe
cases.

82. • Progressive Palmar radial curvature of the
distal phalanx of little finger.(deviation in 2
planes)
• Distortion & widening of epiphyseal plate along
with curvature of the diaphysis of the distal
phalanx.

83. • Xterised by curvature of a digit in a radio ulnar
plane (>100) distal to MCPJ.
• Most common presentation is inward (radial)
deviation of the little finger @ DIP. (Middle
phalanx of little finger - last bone to ossify)
• Proximal phalanx of thumb – 2nd most common
• The pathoanatomical basis of clinodactyly rests
with an abnormally shaped middle phalanx
known as a DELTA phalanx.

84. • Due to an abnormality of its epiphysis, the
delta phalanx assumes an abnormal
Trapezoidal shape, which in turn gives rise to
curving of the digit.

85. • Most patients with this condition do not have
any functional deficits and hence surgery is
not indicated purely for aesthetic purposes.
• Wedge osteotomy techniques can be
employed In cases of severe angulation and
interference with function.

86. • Harvey Cushing coined the term
• To describe the congenital stiffness of the
PIPJs. (most commonly)
• Has now been extended to include stiffness of
the DIPJs as well.
• Caused by failure of differentiation of the
Interphalangeal joint – there is absence of the
joint capsule.
• Occurs in assoc. with a number of other
conditions including, Apert’s syndrome,
Poland’s Syndrome and Radial club hand.

87. • Usually conservatively as the hand functions
quite well.
• Mainstay of treatment involves hand therapy
and dynamic splintage.
• Arthroplasty and Arthrodesis may be
considered following skeletal maturity to
obtain a more functional position.

88. • This involves the fusion of 2 bones
• Either in a partial manner permitting some
degree of movt. Or in a complete manner
permitting absolutely no movement at the
joint.
• Can occur at any site along the UL where there
are two bones adjacent to one another.
• Can occur between phalanges (complex
Syndactyly), metacarpal bones, carpal bones
and the radius and ulnar.

89. Mainstay of
treatment is
surgery and
involves
rotational
osteotomies to
improve the
position and
hence function
of the hand.

90. • Non progressive multiple congenital joint contractures
• An abnormality of the nerves in the motor unit is
thought to be the cause of this condition.
• Elbow – most commonly with lack of flexion.
• Amyoplasia – classic type
▪symmetric limbs
▪shoulder- adducted , internally rotated
▪elbow –extension
▪forearm- pronation
▪wrist – flexion
▪hand – club-like, ulnar deviation
▪thumb – flexed, adducted
▪fingers - flexed

91. Treatment is usually confined to dynamic and static splinting
with surgery being indicated to correct specific functional
problems.

92. • Fingers are deviated in an ulnar direction
• Severe hyper flexion of fingers at MCPJ with
ulnar deviation .
• Due to metacarpal bone shortening.
• “Whistling face” syndrome
• Usually B/L
• Progressively worse as the child matures
• Treatment is surgical and involves reconstruction
of the deformed hand.

95. • In duplication, the entire limb or part of the limb may
be duplicated. Polydactyly refers to the presence of
more than 5 fingers in the hand. It is the most common
congenital anomaly in Upper extremity.
• It can occur on its own or as a condition associated
with a syndrome.
• Classed into:
 Ulnar polydactyly (Post-axial)
 Central polydactyly
 Radial polydactyly (Pre-axial)
 Ulnar dimelia

96. • Post axial polydactyly; Africans; syndromic
• 8x as common as polydactyly of the other fingers
• Stelling has divided ulnar polydactyly (duplication
of the little finger) into 3 types:
1. Type 1: a mass of soft tissue lacking a skeletal
structure attached to the post axial region.
2. Type 2: an extra digit with all the normal
components articulating with a normal or bifid
Metacarpal or phalanx.
3. Type 3; an extra digit articulating with an extra
metacarpal.
Treatment involves removal of the extra digit in 2
and 3 and removal of skin tag in 1.

97. ULNAR
POLYDACTYLY

98. • Duplication of the index, middle and ring fingers
• Seen in association with varying degrees of
Syndactyly, and in this case it is referred to as
POLYSYNDACTYLY.
• Surgical intervention usually involves release of
the Syndactyly, removal of the extra digit and
augmentation of the retained digit via
reconstruction.
• Complex operative procedure; requires more
than one operation.

100. • Generally thumb duplication
• Usually U/L; Asians; isolated
• Wassell classified it into 7 types
i. Bifid distal Phalanx
ii. Duplicated distal phalanx
iii. Bifid proximal phalanx with duplicated distal phalanx
iv. Duplicated proximal and distal phalanx (Most
Common; 44% of cases)
v. Bifid metacarpal with duplication of the proximal and
distal phalanx.
vi. Duplicated metacarpal, proximal and distal phalanx
vii. Triphalangeal thumb

103. • Rare condition
• Duplication of the ulna, absence of the radius and
7 or 8 fingers; A central digit with 3 digits (long,
ring, little) on either side with no thumb.
• Sometimes referred to as Mirror hand.
• Due to transplantation/replication of ZPA
• There is usually stiffness of the elbow joint with
reduced forearm rotation
• Treatment involves excision of the Olecranon (to
improve elbow stiffness) and excess fingers.

104. • Macrodactyly: Only deformity in this group
• Enlargement of all structures within a digit
• True macrodactyly needs to be differentiated
from other causes of enlarged digits such as
vascular malformations, osteoid osteomas,
fibrous dysplasia and lipomatoses.
• Most common presentation is macrodactyly
associated with nerve-orientated
lipofibromatosis.

105. • In this condition, there is adipose tissue and
fibroblast deposition in the cutaneous nerve
supplying the digit (leading to its
enlargement) and hence it is alternatively
described as nerve territory orientated
macrodactyly.
• Most commonly occurs in the median nerve
distribution supplying the index finger and is
usually U/L.

106. Classification
• Flatt’s classification -
Type I – lipofibromatosis
Type II- neurofibromatosis
Type III- hyperostosis
Type IV- Gigantism and hemihypertrophy
• Majorly into 2 types
1. Static Macrodactyly: enlarged digit grows in
proportion with the rest of the child’s body
2. Progressive Macrodactyly: the enlarged digit
grows progressively out of proportion with the
rest of the child’s body

107. •Brachydactyly
•Thumb hypoplasia
•Madelung deformity

108. • Fingers that are shorter than normal
• Occurs in association with symbrachydactyly
where the fingers are replaced by small
nubbins
• Treated either via distraction, free phalangeal
transfers from the toes or free microvascular
joint or bone transfer.

109. Thumb Hypoplasia
• The thumb is the digit that is most commonly
hypoplastic.
classified thumb hypoplasia into 5
types
Type 1: small thumb with normal
components. This deformity does not affect
function adversely and hence in the vast
majority of cases does not require surgical
correction.

110. Type 2: the thenar muscles are hypoplastic. The
first web space is narrowed due to adduction
contracture and the MCP joint is unstable due to
laxity of the ulnar collateral ligament. The skeletal
structure of the thumb is however normal.
Treated via release of the 1st web space and an
opponensplasty (an operation where a muscle is
transferred to restore thumb opposition)
Type 3: there is hypoplasia of the skeletal
structure + intrinsic muscles with abnormalities
of the extrinsic tendons. A - stable CMC joint, B-
unstable CMC joint. It is treated by amputation
and pollicization of the index finger (index finger
is removed and used to create thumb) or by soft
tissue and skeletal re-construction.

111. Type 4: A small thumb is attached to the hand
via a skin bridge; floating thumb (pouce
Flottant)
Type 5: Aplasia. Both types 4 and 5 are treated
via pollicization of the index finger.

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

113. A growth disturbance in
the volar-ulnar distal
radial physis
volar and ulnar tilted
distal radial articular
surface,
volar translation of the
hand and wrist,
a dorsally prominent
distal ulna.

115. • Adolescent females
• Pain, Decreased range of motion, and
deformity.
• Genetic etiology and is associated with
mesomelic dwarfism and a mutation on
the X chromosome.
• Surgery involves addressing the deforming
bony and ligamentous lesions, correcting
the abnormal position of the radial articular
surface, and equalizing the longitudinal
levels of the distal radius and ulna

116. )
• Involves the presence of tight bands around any
part of a limb or digit.
• May encircle entire circumference or partially
encircle.
• 1:15000 live births.
• Two hypotheses to its etiology
1. First one proposes that it is caused by extrinsic
amniotic bands encircling the limb in utero
2. Proposes that it is caused by an intrinsic defect
in the germ cell layer.

117. • Categorized by Paterson into 4 main groups
A. Type 1: simple constriction ring involving only
a groove in the skin (partial/circumferential)
B. Type 2: Constriction ring with distal
lymphedema
C. Type 3: constriction ring associated with
fusion of digits distally (known as
Acrosyndactyly – fenestrated Syndactyly)
D. Type 4: intrauterine amputation.

120. • Typically involves excision of the ring via
multiple Z-plasty or W-plasty.
• If Acrosyndactyly is present, it should be
released within the 1st year of life to enable
the digits to grow normally.

121. 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).

122. • Craniofacial
anomalies with
mitten hands.
• Apert syndrome is
a form of
acrocephalosyndac
tyly, a congenital
disorder
characterized by
malformations of
the skull, face,
hands and feet

123. • It is classified as a branchial arch
syndrome, affecting the first branchial (or
pharyngeal) arch, the precursor of the
maxilla and mandible
• Disturbances in the development of the
branchial arches in fetal development
create lasting and widespread effects.

125. Apert syndrome (acrocephalosyndactyly)
• Characterized 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)

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

127. 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 – unspecified axis
II. Deformations –
1. Constriction ring syndrome
III. Dysplasias
1.Macrodactyly
2.Limb hypertrophy
3.Tumorous conditions

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

129. 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

131. Types of symbrachydactyly
Short finger Atypical Cleft hand monodactyl Peromely

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

133. Dorsal Dimelia of little finger
• Failure in axis formation & differentiation in
hand plate
• Involves dorso-ventral axis.
• Non ridge ectoderm – signaling centre.
• Palmar nail.

134. 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

135. 1.Syndactyly
2.Campto-
dactyly
3.Trigger
digits
1.Brachydactyly
2.Clinodactyly
3.Kirner’s
deformity
4.Metacarpal &
carpal
synostoses
1.Cleft hand
2.Syn-
polydactyly
3.Apert
hand
Soft tissue Skeletal Complex
C. Failure in hand plate formation &
differentiation –unspecified axis

136. Brachydactyly
• Bell’s classification-
A. 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)

137. Bell’s classification

138. THANK YOU