1. Dr O O Were

2. Congenital deformities are attributable to faulty development and are present at birth, though they may not be recognised till later Vary from severe malformations incompartible with life to minor structural abnormalities with no practical significance

3. Congenital anomalies affect 1-2% newborns with ≈ 10% with upper limb anomalies Accurate diagnosis and communication to family required

4. Embryogenesis of upper limb between 4-8 week gestation guided by signalling centres within developing limb bud Anomalies may be associated with systemic disorders, in isolation or in combination with other musculoskeletal problems

5. Signalling centres Apical ectodermal ridge Zone of polarizing activity Wingless-type( Wnt) signalling centre Abnormalities within 1 centre indirectly prohibit functioning of other 2 and affect limb formation

6. Apical ectodermal ridge Ectoderm layer guiding underlying mesoderm to differentiate to appropriate structures Limb development in proximal to distal direction Interdigital necrosis

7. Zone of polarizing activity Within posterior margin of limb bud Signalling centre for anterior to posterior(radioulnar) limb development Signalling molecule for limb orietation sonic hedgehog protein

8. Wnt signalling centre Dorsal ectoderm Secrete factors that induce mesoderm to adopt dorsal characteristics Mediates development of dorsal-to-ventral axis configuration and alignment of the limb with dorsal orientation( dorsalization)

9. Causes Genetic Environmental Combined genetic and environmental: most congenital malformations in man

10. Classification I: Failure of formation of parts II: Failure of differentiation of parts III: Duplication IV: Overgrowth V: Undergrowth VI: Congenital constriction band syndrome VII: Generalized skeletal abnormalities International Federation of Societies for Surgery of the hand- 1976

11. Failure of longitudinal formation- radial club hand

12. Failure of longitudinal formation- Cleft hand

13. Failure of differentiation- Syndactily

14. Congenital constriction band syndrome

20. Constriction bands Type 1: mild transverse/oblique digital groove Type 2: deeper groove with abnormal distal part Type 3: incomplete or complete syndactyly of distal part( acrosyndactyly) Type 4: Complete amputation distal to constriction

21. Incomplete type 1 treated by observation If can cause vascular impairment, surgical release by multiple Z-plasty closure Entire release if shallow If deep, only 1 side of digit released at each procedure to avoid vascular compromise Acrosyndactyly separation initiated at 6/12

22. Madelung’s deformity Abnormal growth of volar and ulnar distal radial epiphysis Ulnar and volar tilt of distal radial articular surface Premature fusion of ulnar half of radial physis Short, bowed radius Short ulna Wedging of carpus between distal radius and ulna

23. Ulnar head enlarged and dorsally subluxated Apparent in late childhood/ early adolescence Degrees of motion limitation and pain due to ulnocarpal impingement

24. Rx Initial splinting( Can provide complete and permanent relief) Surgery if persistent pain Radial osteotomy plus ulna shortening osteotomy Radial osteotomy with distractionlengthening of the radius

25. Functional development of child’s hand Well coordinated control of the grasp and pinch between thumb and fingers at end of 1 st year 1-3, refined coordination with bimanual dexterity and ↑ strength of grasp and pinch

26. Maximal functional gain before child conforms to fixed pattern of activities Most reconstruction should be completed before school

27. Initial assessment Definition and classification of abnormality Assessment of severity of deformity with provision for deterioration with growth If necessary, conservative treatment by splintage, stretching exercises Inform parents if later surgery needed Clinical geneticist consult if necessary

28. Surgery Achievement of function and cosmesis( In order of priority) 2-handed pattern superior to single hand Unsightly abnormality may lead to psychological strain thus affecting function No operative intervention should compromise existing function

29. Timing Depends on specific anomaly Usually 6-18 months Earlier Rx for conditions that threaten limb viability e.g. constriction bands

30. Goals of reconstructive surgery Functional position of components of the hand Provide good skin cover with adequate sensation Satisfactory power grip and precision pinch

31. Pitfalls in reconstructive surgery Diversity of anomalies leads to difficulty in surgery( Every pt should be individualised) Unpredictable growth potential e.g. recurrence of webbing in syndactily Lack of cooperation from child complicates post operative rehabilitation

32. Rehabilitation Team approach Functional capability assessment by P.T./O.T. Parental care and encouragement Counselling by clinical psychologist

33. Child prosthesis Only realistic option in some anomalies e.g. transverse arrest at or above forearm Training as early as 18/12 ↑ complexity in accordance with functional need

34. Chronological management plan

36. Isaac Newton “ In the absence of any other proof, the thumb alone would convince me of God’s existence”

37. Thumb hypoplasia Short thumb: Doesn’t reach PIPJ of index finger Adducted thumb Abducted thumb Pouce flottant: Short, unstable thumbmore distal and radial than normal Absent thumb( Index pollicization) Blauth classification

38. Other anomalies Congenital trigger thumb Congenital clasped thumb All neonates hold thumb in that position till 3/12 age

39. THUMB DUPLICATION Both radial and ulnar duplicates display some hypoplasia, but radial usually affected more Intrinsic muscles innervated by ulnar nerve insert on ulnar duplicate while those by median nerve on radial duplicate Digits may be angulated and joints may be stiff M ˃ F

40. Many forms ranging from degrees of splitting to complete duplication Occasionally only fleshy nubbins on radial border Duplication alone usually unilateral and sporadic Duplication associated/w triphalangeal thumb usually AD

44. Treatment Surgical treatment recommended Recommended time Combination of elements of both digits For unequal digits, excision of smaller digit with collateral ligament reconstruction Care to ensure normal articular contour of distal phalanx

45. Individualised for more complex deformities For type 4, least developed digit( usually radial duplicate) amputated Intrinsic and extrinsic tendon transfers, with radial collateral ligament reconstruction Occasionally, osteotomy or growth plate arrest to improve alignment