comprehensive detail about anomalies of hand

1. CONGENITAL ANOMALIES OF
THE HAND
DR. ANAND J KARIA

2. Embryology
• Upper limb development: during Day 27-56
• Same time as: heart and other organ
• Lower limb lags by 48 hrs.
• Wolfe’s crest
• Limb bud initiated by homeobox ( HOX ) genes
• Maintained by fibroblast growth factors. Normal limb bud growth and
development occur by three distinct signaling centers:-
• (A) Apical ectodermal ridge (AER) :primary signaling center of proximal to distal
growth.
• (B) Zone of polarizing activity (ZPA) : controls development primarily in the
anteroposterior or radioulnar axis
• (C) Progress zone: - proliferating mesodermal cells

4. Classification
• Failure of formation of parts (arrest of development)
• Failure of differentiation (separation) of parts
• Duplication
• Overgrowth
• Undergrowth
• Congenital constriction band syndrome
• Generalized skeletal abnormalities

5. Failure of formation of parts (arrest of
development)
• A :- TRANSVERSE ARREST
• B:- LONGITUDINAL ARREST
• a) Phocomelia
• b) Radial club hand ( pre-axial arrest )
• c) Cleft hand ( central arrest )
• d) Ulnar club hand ( post – axial arrest )

6. TRANSVERSE ARREST
• Deformities in which there is complete absence of parts distal to
some point on the upper extremity.
• 98%:-unilateral,
• Most common level :- Upper third of the forearm.
• Producing amputation-like stumps.
• Incidence :- 6.8 per 10,000
• Cause :- failure of the apical ectodermal ridge possibly secondary to
infarct

7. Presentation
• A newborn with a transverse deficiency usually has a
slightly bulbous, well-padded stump.
• In the more distal deficiencies, rudimentary vestigial digital
“nubbins” are common
• Upper forearm amputation:-The forearm usually is no
more than 7 cm long at birth and can be expected to
measure no more than 10 cm by skeletal maturity.
• Midcarpal amputations:-The second most frequent level of
deficiency, the rudimentary digital remnants usually are
nonfunctional.

8. Treatment
• Prosthetic treatment :- It usually consists of
early prosthetic fitting of the deficient limb.
• SURGICAL TREATMENT:-
• METACARPAL LENGTHENING :- it is reserved
at the level of the metacarpophalangeal joints
with at least one remaining digit.

9. LONGITUDINAL ARREST
Phocomelia
• The term phocomelia is derived from the Greek words for “seal limb” or
“flipper”.
• The hand is suspended from the body near the shoulder.
• The hand usually is deformed and contains only three or four digits.
• It was extremely rare (0.8% of congenital hand malformations) until the
appearance of thalidomide-related deformities in the 1950s.
• Sixty percent of infants born to mothers taking thalidomide between days
38 and 54 after conception had this deformity.

10. Frantz and O’Rahilly classification

11. PRESENTATION
• Children with phocomelia show slight differences in the overall length and
appearance of the limb and different degrees of humeral, forearm, and hand
deficiencies.
• The clavicle and scapula :-always present.
• The hand usually has only three or four digits,
• The thumb:- usually absent.
• Active and passive motion at the metacarpophalangeal and proximal
interphalangeal joints varies.
• By maturity, the patient usually is unable to reach the mouth, face, and
genitalia and is unable to clasp the hands together, resulting in considerable
functional and psychologic impairment.
• There is no true elbow joint.

12. Treatment
• Treatment of these patients generally is conservative.
• Devices have been developed to assist in hygiene, feeding, and
dressing.
• Surgery has very little role and is indicated only for shoulder
instability, limb shortening, or inadequate thumb opposition.

13. RADIAL CLUBHAND
• Include all malformations with longitudinal failure of formation of parts
along the preaxial or radial border of the upper extremity
• Deficient or absent thenar muscles
• A shortened, unstable, or absent thumb
• Shortened or absent radius
• Incidence:- 1 in 50,000 live births
• Cause :-unknown
• The deformities are believed to occur sporadically outside of the cases
caused by thalidomide use
• Although genetic and environmental factors have been suggested

14. Bones
• The scapula, clavicle, and humerus :- Reduced in size.
• The ulna :- Short, thick, and curved, with an occasional synostosis with any
radial remnant.
• The radius :-Total absence (most frequent).
• Scaphoid and Trapezium :- Absent in >50%
• Lunate, trapezoid and pisiform:- Deficient in 10%
• Thumb:-absent in more than 80%
• The Only present bones :- Capitate
Hamate
Triquetrum
Ulnar four metacarpals and phalanges

15. Muscles
Present Absent or hypoplastic
triceps long head of the biceps
extensor carpi ulnaris brachialis
extensor digiti quinti proprius brachioradialis is absent in nearly 50% of patients
lumbricals extensors carpi radialis longus and brevis
interossei (except for the first dorsal interosseous) pronator teres often is absent or rudimentary
hypothenar muscles pronator quadratus, extensor pollicis longus, abductor
pollicis longus, and flexor pollicis longus

16. Presentation
• Deformity of a short forearm and radially deviated hand is almost
invariably present at birth.
• The hand often is relatively small.
• The metacarpophalangeal joints usually have limited flexion and
some hyperextensibility.
• Flexion contractures often occur in the proximal interphalangeal
joints.
• Stiffness of the elbow.

17. Heikel’s Classification
Type
I
short distal radius
Type
II
hypoplastic radius
Type
III
partial absence of radius
Type
IV
total absence of radius

18. Associated syndromes
• Associated cardiac,
hematopoietic,
gastrointestinal, and renal
abnormalities occur in
approximately 25% to 44% of
patients and may lead to
significant morbidity and
mortality risks.
syndromes
Holt-oram AD
Thrombocytopenia
absent radius
AR
Fanconi anemia AR
VACTERL association SPORADIC

19. Tests and Treatment
• Tests for Evaluation at initial time:-
• 1. Complete blood count
• 2. Echocardiogram
• 3. Abdominal ultrasound
•Treatment
• Nonoperative :-
• Early casting and splinting generally are recommended.
• Operative :-
• Can be postponed for 2 to 3 years.
• 1. Centralization of the carpus on the forearm.
• 2. Thumb reconstruction.

21. CLEFT HAND—CENTRAL DEFICIENCIES
• Include malformations in which there is a longitudinal failure of
formation of the second, third, or fourth ray.
• Common names:- ectrodactyly, crab claw, lobster claw, and cleft
hand.
• Children with these deformities develop amazing dexterity but
frequently hide their hand in a pocket to avoid drawing attention to
its clawlike appearance
• Incidence :- 1 per 90,000 live births.
• Cause:- unknown most cases occur sporadically
• Classification :- (A) Typical (B) Atypical

22. • (A) TYPICAL:-
• central V-shaped cleft with variable degrees of deficiency of the long ray.
• Typically bilateral with similar bilateral foot deformities.
• (B) Atypical
• Severe U-shaped deficiency that involves the index, long, and ring ray, leaving only a thumb and little
finger attached to the hand.
• Usually unilateral without associated foot deformities.

23. Classification

24. Maisels’ suppression theory
• Suggests that as the severity of suppression
increases, absence of the central ray is seen
first, followed by loss of the radial rays and
eventually loss of all rays

25. Treatment
Nonoperative treatment:- No appropriate treatment is available.
Surgical :- 1.Thumb, thumb web space reconstruction
2. Central cleft reconstruction

26. ULNAR CLUBHAND—ULNAR DEFICIENCIES
• Longitudinal failure of formation along the postaxial border of the
upper extremity.
• Most common :-partial deficiency of the ulna and the ulnar two
digits.
• Cause:- unknown, occurrence is sporadic
• Associated Anomalies:- clubfoot, fibular deficiencies, spina bifida,
femoral agenesis, mandibular defects, and absence of the patella.

27. Presentation
• The forearm :-Shortened and frequently bowed.
• The small and ring fingers:- Usually absent.
• Syndactyly of the remaining digits is common.
• The long and index fingers and the thumb :- Absent in 2/3
• The pisiform and hamate :- Usually absent.
• coalitions of the other carpal bones frequently are present.
• Typical of an absent distal ulna and a bowed radius with an
increased ulnar slope along its distal articular surface

28. Swanson classification of ulnar deficiency
Types Description
Type 1 Hypoplasia or partial defect of ulna
Type 2 Total defect of ulna
Type 3 Total or partial defect of ulna with humeroradial
synostosis
Type 4 Total or partial defect of ulna with congenital
amputation at wrist

29. Cole and Manske classification
• Based on the involvement of the thumb and first web.
TYPE DESCRIPTION
A Normal first web space and thumb
B Mild first web and thumb deficiency
C Moderate-to-severe first web and thumb deficiency
D Absent thumb

30. Treatment
• Non-operative :-
• 1. Casting and splinting
• 2. Removable splints
• Operative :-
• ROTATIONAL OSTEOTOMY OF THE FIRST METACARPAL
• EXCISION OF AN ULNAR ANLAGE
• CREATION OF A ONE-BONE FOREARM

31. Failure of differentiation (separation) of parts
• 1) SYNDACTYLY:-
• Syndactyly, or “webbed fingers,” is caused by the failure of the fingers to
separate during embryologic development.
• most common congenital anomaly
• Incidence :- 1 per 2000 births.
• Cause :- abnormal slowing of growth and development of the finger buds
during weeks 7 and 8 of gestation.
• Inheritance :- AD in 20% cases
Associated Anomalies :- webbing of the toes , Polydactyly, constriction
rings, cleft feet , absence of muscles, heart disorders.

32. Associated syndromes :-
• Apert syndrome :- Multiple syndactylies.
• Poland syndrome:-The sternocostal portion of the ipsilateral
pectoralis major muscle is absent.
• Unilateral shortening of the index, long, and ring fingers
• Multiple simple incomplete syndactylies;. and hypoplasia of the hand

33. Classification
Types Description
Complete Fingers are joined from the web to the fingertip
Incomplet
e
Fingers are joined from the web to a point proximal to the fingertips
Simple Only skin or other soft-tissue bridges the fingers
Complex When there are common bony elements shared by involved fingers
Complicat
ed
Other anomalies present (eg) Poland syndrom

35. Treatment
• Reconstruction surgery :- Best done before the child is of school age
• Timing :-
• 1. Tethered border digits early
• 2. Central digits at a later date
• 3. Never operate on both side of a digit on a single setting
• Complications :- 1.Graft loss
2. Web creep
3.Keloid
4.Nail deformity

36. Duplication
• POLYDACTYLY:-
• Classified into three main categories:-
• (1) Preaxial—Duplication of the thumb
• (2) Central— Duplication of the index, long, or ring finger
• (3) Postaxial—Duplication of the small finger

37. PREAXIAL POLYDACTYLY (BIFID THUMB)
• The bifid thumb represents a complete or
partial duplication of the thumb.
• Incidence :- 1 per 10,000 births.
• Usually is unilateral
• Not associated with other malformation
syndromes.

38. Presentation :-
Varies from mild widening of the thumb tip to complete duplication of
the entire thumb
Some degree of hypoplasia of both duplicates seen. Common( radial
duplicate)
• The joints usually are stiff, with a widened joint surface.
• The phalanges may be angulated.
• The nail may be one large, conjoined nail or it may be completely
duplicated.
• The collateral ligaments of the duplicated joints often are shared.

39. Classificationtypes Wassel classification
I Partial duplication of the distal phalanx and a common epiphysis
II Complete duplication, including the epiphysis of the distal phalanx
III Duplication of the distal phalanx and bifurcation of the proximal phalanx
VI Complete duplication of the distal and proximal phalanges
V Complete duplication of the distal and proximal phalanges with bifurcation of the metacarpal
VI Complete duplication of the distal and proximal phalanges and the metacarpal
VII Variable degrees of duplication associated with a triphalangeal thumb

40. Treatment
• Surgical correction is almost always is indicated.
• Reconstruction surgery :-
• Generally is performed when the child is about 18 months old, but no
later than 5 years old if possible.

41. TRIPHALANGEAL THUMB
• It has three phalanges instead of the normal
two.
• Inheritance :- AD
• Types :-
• Type 1. It has small, wedge-shaped extra ossicle
that causes anngular deformity.
• Type 2. Extra phalanx that is normal or nearly
normal and creates the appearance of a five-
fingered hand.

42. Presentation
• Patients with type II deformities are unable to oppose
the thumb to the other digits.
• Hypoplasia of the thenar muscles often is associated
with type II deformities.
• Radiographs show a complete extra, rectangular
phalanx; the duplicated phalanx typically is the middle
phalanx

43. POSTAXIAL POLYDACTYLY
• Duplication of the small finger
• Demographics:- 10X more common in
African Americans
• Incidence:- 1 per 300 black births.
• It is believed to be genetically
determined.
• Temtamy and McKusick classification:-
• Type A:- A fully developed extra digit
• Type B:- Rudimentary supernumerary
digit
• Infants may have one one thses types.

44. classification
Stelling and Turek classification :- Based on morphology
Type 1 Duplication of soft parts only
Type 2 Partial duplication of the digit ,
including osseous structures
Type 3 Complete duplication of the
ray

45. Associated Anomalies With Type A Postaxial
Polydactyly
• Clubfeet
• Tracheomalacia
• Renal reflux
• Clubfeet
• Tongue malformation
• Gastroesophageal reflux
• Aortic insufficiency

46. Treatment
• 1. Ligatures :-
• Performed in the nursery.
• The use of ligatures around the base postaxial duplication with
sutures or a vascular clip such that blood flow is ceased.
• The digit becomes necrotic and falls off.
• 2. Surgical treatment :-
• EXCISION OF EXTRA DIGIT
complications :- Failure of the digit to fall off
Infection

47. Central polydactyly
• Refers to duplication of the index, long, or ring finger.
• Usually is associated with complex syndactyly.
• Associated anomalies :- Polydactyly and Syndactyly of the toes.
• Inheritance :- AD.
• Treatment :- 1. Excision of the most hypoplastic digit.
• 2. Reconstruction with excision of the extra digit.
• Reconstruction should be performed by the time the child is 6
months old.

48. Ulnar dimelia ( Mirror Hand )
• Radial and Ulnar clusters of fingers in the same hand that are near-
mirror images of each other.
• Incidence:- Exceedingly rare
• Cause:- unknown but It is believed to result from an aberration in the
control process of the apical ectodermal ridge of the limb bud.
• Inheritance :- AD
• Usually unilateral.

49. Presentation
1.Usually is unilateral and, with multiple fingers dangling from a
normal palm.
2.The hand usually has six to eight well-formed fingers that all
may lie in nearly the same plane or with slight opposition
between the two halves.
3.The digits may be flexed, hand is radially deviated at the wrist.
4.The wrist and elbow appear thick, elbow motion is decreased,
and the arm is shortened.
5.The ulna and ulnar carpal bones are completely duplicated.
6.the scaphoid and trapezium are replaced

50. Treatment
• Parents should be encouraged to maintain passive range of motion in
the fingers, wrist, elbow.
• shoulder by gentle stretching exercises until the child reaches an
appropriate age for surgical treatment.
• Operative treatment:-
• 1.EXCISION OF THE PROXIMAL ULNA
• 2.RECONSTRUCTION OF THE HAND AND WRIST

51. Overgrowth ( Macrodactyly )
• It is a rare congenital anomaly (0.9%) in which
there is enlargement of the finger.
• Most common :- Index finger
• Cause:- Unknown
• Associated with syndactyly in 10% of patients.
• Factors :- 1. Abnormal nerve supply
• 2. Abnormal blood supply
• 3. Abnormal humoral mechanism
• Types :- described by Barsky :-
• 1. Static macrodactyly
• 2. Progressive macrodactyly

52. Types
• 1. Static macrodactyly:- Enlargement in proportion to the rest of
the digits.
• 2. Progressive macrodactyly:- Enlargement out of proportion to
the rest of the digits.

53. Treatment
• No satisfactory nonsurgical methods.
• Indications for surgery :-Enlargement, angulation, carpal tunnel
syndrome
• 1. Debulking procedure
• 2. Epiphysiodesis ( Physeal arrest by drilling holes )

54. Undergrowth
• HYPOPLASTIC THUMB :-
• Any thumb with some degree of deficiency in any of its anatomic
parts—osseous, musculotendinous, or ectodermal.
• The thumb may be functional but simply shorter than normal or, in
the most severe manifestation, totally absent.
• Can occur with radial hypoplasia.
• B/L :- 20% to 60% of cases.

55. Blauth classification
Types Description
Type I Mild generalized hypoplasia (short thumb)
Type II Moderate hypoplasia ( thenar muscles absent )
Type III Sever hypoplasia ( skeletal hypoplasia )
Type IV Floating thumb
Type V Aplasia

56. CONGENITAL RING SYNDROME
• It occurs when deep cutaneous creases encircle a limb as if a string
were tightly tied around the part.
• Lymphedema distal to the crease is frequent
• Other terms:- Streeter bands or dysplasia, annular grooves or defects,
and intrauterine amputation.
• incidence :- one per 15,000 births
• Cause:- An external effect of amniotic adhesions formed in utero
after hemorrhages in the distal rays and failure of development of
subcutaneous tissue

57. Deformities
• Described by Patterson
• (1) A simple ring usually occurring transversely, but occasionally
obliquely, around the limb or digit
• (2) A deeper ring often associated with abnormality of the part
distally
• (3) Fenestrated syndactyly at their distal ends with proximal
fenestrations between the intervening skin and soft tissue
• (4) Intrauterine amputation
• These four types may be present in any combination in a single child.

58. Presentation
• Lymphedema distal to the crease is frequent.
• The skin often is normal, but subcutaneous
tissue usually is deficient.
• The superficial blood vessels that run across
the ring are absent,
• Deep vessels are intact. Digits distal to the rings
may be shortened or completely amputated.
• Terminal simple syndactyly with small
fenestrations through the proximal web is
frequent.
• The rings are not static in their effect.
• x-ray:-hourglass deformity of proximal phalanx

59. Treatment
• Multiple Z-plasties for severe congenital ring syndrome.

60. “The worst thing about a disability is that people
see it before they see you.” – Easter Seals
Thank you

61. Reference and study material
CAMPBELL’S OPERATIVE ORTHOPAEDICS 13th EDITION