Congenital Anamolies of Upper Limb Apert syndrome Club hand Cleft hand

1. CONGENITAL ANAMOLIES OF UPPER LIMB
DR. KK

2. DEFINITION
• Deformities since birth called congenital anamolies
• Anamolies of
hand,
forearm,
arm,
shoulder…

3. Incidence
each year about 4 out of every
10,000 babies will have upper
limb anamolies

4. 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

5. EMBRYOLOGY

6. International Federation of Societies for Surgery of the Hand
(IFSSH - 1983)
I. Failure of formation of parts (arrest of development)
A. Transverse arrest (common levels are upper third of
forearm, wrist, metacarpal, phalangeal)
B. Longitudinal arrest (including phocomelia, radial/ulnar club
hands, typical cleft hand, atypical cleft hand otherwise
referred to as part of the spectrum of symbrachydactyly)

7. International Federation of Societies for Surgery of the Hand
(IFSSH - 1983)
II.
A.
B.
C.
Failure of differentiation of parts
Soft tissue involvement
Skeletal involvement
Congenital tumorous conditions
radio-ulnar synostosis,
symphalangism (stiff PIP joints with short phalanges),
camptodactyly,
arthrogryposis,
syndactyly.

8. International Federation of Societies for Surgery of the Hand
(IFSSH - 1983)
III. Duplication
IV. Overgrowth
V. Undergrowth (thumb hypoplasia, Madelung's deformity
(abnormal distal radial growth)
VI. Congenital constriction band syndrome
VII. Generalised skeletal abnormalities.

9. 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.

10. CLUB HAND
• Club hand deformites are classified into two main
categories radial and ulnar.
• Radial club hand
• Ulnar club hand

11. RADIAL CLUB HAND

12. RADIAL CLUB HAND
• Radial club hand includes a wide spectrum of disorders that
encompass absent thumb, thumb hypoplasia, thin first
metacarpal and absent radius.
• Radial club hand is frequently syndromatic
• 1733

13. RADIAL CLUB HAND
Well-developed arm bud - 28-30 days
males : females (3:2)
1:55000 to 1:100000 live births
maternal drug exposure, compression of the uterus,
vascular injury, Apical Ectodermal Ridge (AER)

14. RADIAL CLUB HAND

15. RADIAL CLUB HAND
Type I: Short distal radius - mildest type,
Type II: Hypoplastic radius,
Type III: Partial absence of radius,
Type IV: Total absence of radius - most common variant.

16. RADIAL CLUB HAND

17. RADIAL CLUB HAND
Syndromes associated
Holt-Oram,
TAR syndrome ,
thrombocytopenia
pancytopenia of Fanconi's anaemia
VATER syndrome
vertebral
Anal
Tracheo-oesohageal
Radial club hand
DeLange,
Daune,
Ives Houston,
Roberts,
Rothmund Thompson
Shokeir syndromes.
Aase syndrome

18. RADIAL CLUB HAND

19. RADIAL CLUB HAND
TREATMENT :
slow distraction by external fixation
hand can be aligned on the forearm
preserve some wrist movement
index finger is pollicised.

20. Ulnar club hand
• Ulnar club hand is much less frequent than radial club hand
• ranges from mild deviation of hand on the ulnar side of
forearm to complete absence of ulna.
• ulnar club hand is usually isolated anomaly

21. TREATMENT
Exercise
limb lengthening
Osteotomy
Radialization
Splint
Wrist centralization

22. Madelung deformity
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.

23. Madelung deformity

24. Madelung deformity
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 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

25. Madelung deformity

26. Apert's syndrome
craniofacial anomalies
with mitten hands.

27. Apert's syndrome
• Apert syndrome is a form of acrocephalosyndactyly, a
congenital disorder characterized by malformations of the
skull, face, hands and feet.
• 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.

28. Apert's syndrome

29. Apert's syndrome

30. CLEFT HAND

31. CLEFT HAND
• Typical cleft hand is usually bilateral, often affecting the
feet as well
• AD
• The deficiency is maximal on the ulnar size, leaving in
severe cases only a hypoplastic thumb.

32. CLEFT HAND

33. Syndromes
Cornelia de Lange’s syndrome
Oculodigital complex
Orodigital complex
Otodigital complex (Wildervank syndrome)
Silver-Russell syndrome
Electrodactyly-ectodermal dysplasia-clefting syndrome

34. RING CONSTRICTIONS

35. RING CONSTRICTIONS
These are released by cutting
large Z-plasties, which often
have to be repeated as the
finger grows.

36. Polydactyly

37. THUMB HYPOPLASIA AND APLASIA
• no trapezium or trapeziometacarpal joint.
• Hypoplastic thumbs can be
stabilised and given more
movement by tendon
transfers.
• The operation of choice is to
pollicise the index finger

38. THANKZ
"The only disability in life is a
bad attitude.“ Scott Hamilton

39. CONGENITAL ANAMOLIES OF UPPER LIMB
…….. Known is a drop….
…………………..unknown is an
ocean………..
Dr. Kalaivanan Kanniyan
Assistant Professor – Orthopaedics
Arthroplasty and Adult Reconstruction Unit
SMCH, Saveetha University, chennai, Tamil Nadu, India.