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Congenital hand anomalies

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Congenital hand anomalies

  1. 1. CONGENITAL HAND ANOMALIES Dr Subhakanta Mohapatra IPGME&R,Kolkata.INDIA
  2. 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. 3. Swanson classification
  4. 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. 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. 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. 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. 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. 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. 10. Radial ray dysplasia
  11. 11. Bayne & Klug classification of radial longitudinal deficiency
  12. 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. 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. 14. Bayne & Klug classification of ulnar longitudinal ray deficiency
  15. 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. 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. 17. Typical cleft hand with central deep V shaped cleft
  18. 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. 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. 20. Complex & complicated syndactyly
  21. 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. 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. 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. 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. 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. 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. 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. 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
  29. 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. • Flatt’s classification Type I –
  30. 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. 31. Blauth classification (thumb hypoplasia)
  32. 32. B.Madelung’s deformity  Radial & palmar angulation of distal radius  Ulnar & palmar part of distal radial physis –growth disturbance point.
  33. 33. 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
  34. 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. 35. 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)
  36. 36. B. Haas syndrome • Presence of 6 metacarpals is characteristic • >5 digits • all having 3 phalanges
  37. 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. 38. Modified Classification
  39. 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. 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. 41. 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
  42. 42. 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
  43. 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. 44. Types of symbrachydactyly Short finger peromely atypical cleft hand monodactyly
  45. 45. Dorsal dimelia of little finger  Failure in axis formation & differentiation in hand plate  Involves dorso ventral axis.  Non ridge ectoderm – signaling centre.  Palmar nail.
  46. 46. 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
  47. 47. 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) •
  48. 48. Bell‟s classification
  49. 49. 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
  50. 50. THANK YOU

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