1.CONGENITAL HAND ANOMALIESDr 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 & morphologicalappearance. 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 ofparts 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 benefitedfrom 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 trunkType 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 andshortened 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 absentulna. Elbow severely affected (with a relatively stable wrist). M>F , Lt>Rt , U/L>B/L. 13. Bayne classification I Ulnarhypoplasia II Partial ulnaraplasia III- Total ulnaraplasiaPaley & Herzenberg classification I Ulnar hypoplasia with intactdistal epiphysis II Partial ulnar aplasia (distal 1/3rd ) III Partial ulnar aplasia (distal 2/3rd ) IV Total ulnar aplasia IV Radiohumeralsynostosis 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 severecase. 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 handTypical 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. Manskes classification of cleft hand Type I Normal 1st web Type IIA 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 handmalformations. 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 ofPIPJ ( 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 ofMCPJ 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) Kirners deformity Progressive palmar radial curvature of thedistal 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 typesymmetric 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 upperextremity . 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 29. 4.Overgrowth A. Macrodactyly Rare Misleading term Digital nerve oriented neurofibroma correct term Whole finger clinodactyly if one digital nerve involved. Syndactyly may coexist. Flatts classification Type I 30. 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 31. Blauth classification (thumb hypoplasia) 32. B.Madelungs deformity Radial & palmar angulation of distal radius Ulnar & palmar part of distal radial physis growthdisturbance point. 33. 6. Constriction band syndrome (streeters 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 34. 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) 35. A. Apert syndrome(acrocephalosyndactyly) Characterised by1. 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) 36. B. Haas syndrome Presence of 6 metacarpals is characteristic >5 digits all having 3 phalanges 37. 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 38. Modified Classification 39. 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 40. 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 41. B. Failure in axis formation & differentiation hand plate Radio-ulnar(AP) axis1.Radial polydactyly 2.Ulnar polydactyly 3.Triphalangeal thumbDorsal vental axis 1.Dorsal dimelia (palmar nail) 2.hypoplastic/aplasti c nail 42. C. Failure in hand plate formation & differentiation unspecified axis Soft Skeletal tissue 1.Syndacty 1.Brachydactyly ly 2.Clinodactyly 2.Campto- 3.Kirners dactyly deformity 3.Trigger 4.Metacarpal & digits carpal synostosesComplex1.Cleft hand 2.Synpolydactyly 3.Apert hand 43. 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 44. Types of symbrachydactylyShort finger peromelyatypical cleft handmonodactyly 45. Dorsal dimelia of little finger Failure in axis formation & differentiation in handplate Involves dorso ventral axis. Non ridge ectoderm signaling centre. Palmar nail. 46. Triphalangeal thumb AD Extra phalanx of variable size, variableshape(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 47. Brachydactyly Bells 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) 48. Bells classification 49. Mirror hand / ulnar dimelia Rare Symmetric duplication of the limb inmidline 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 50. THANK YOU