common congenital deformities of hand

Dr Sumer Yadav
Mch – Plastic and Reconstructive surgery
sumeryadav2004@gmail.com

Embryology of upper limb
 A bulge or limb bud on the ventrolateral wall
of the embryo on day 26 (4-mm crown-to-
rump length).
 Also known as Wolff crest and lies opposite
the 5 lower cervical and 2 upper thoracic
segments

 A thickening develops on the ventromedial border of the
limb bud: the apical ectodermal ridge (AER) and is vital in
axis orientation, outgrowth, and digitation
 It covers a layer of undifferentiated, proliferating
mesenchymal cells 5-15 cells thick, known as the
progress zone (PZ), essential in limb outgrowth.
 The AER and PZ work as a functional unit responsible for
the outgrowth of the limb along the proximodistal axis

 The limb bud continues to grow outward from the ventral wall, and
at day 32 it develops a somewhat flattened, paddle-shaped hand
plate (8-mm crown-to-rump length).
 During the fifth week, differentiating mesenchymal cells condense
in a proximal-to-distal fashion to form blastemas, which eventually
develop into cartilaginous models of, ultimately, the bones of the
upper extremity.
 At this time, nerve ingrowth from the rami of the spinal cord also
occurs proximally. During the sixth week, hyaline cartilage models of
the proximal bones of the extremity are formed.
 Vessels : 3+1, br-med-uln-int-rad

 In the seventh week, the upper extremity continues outgrowth and
rotates 90° so that the elbows project posteriorly and the
developing hands lie on the anterior thorax.
 Cartilaginous models of the proximal bones are undergoing
ossification
 Mesenchymal cells derived from the dermomyotome condense
within connective tissue (mesenchymal) scaffolds to form 2 common
muscle masses. They are immediately penetrated by the spinal
nerves. These dorsal and ventral common muscle masses split later
to form the muscles of the extensor and flexor compartments,
respectively.

 Anatomically, the fetal period is signified by
vascular penetration of the humerus
 Most of the morphologic differentiation of the
limb occurs during the embryonic period; the
most critical period for the development of
anomalies is from 24-36 days.

a brief timetable of hand
development (modified from
Tickle)
 Onset of development of arm bud - 27 days
 Well-developed arm bud - 28-30 days
 Elongation of arm bud - 34-36 days
 Formation of hand paddle - 34-38 days
 Onset of finger separation - 38-40 days
 Full separation of fingers - 50-52 days

Few out of so many…………..
 Camptodactyly, syndactyly, and polydactyly are
the most common abnormalities.
 Assoc with 40, 38 and unkn no. of sydromes too.

Something about anomalies
 When 3 or more minor anomalies exist in a
single patient, the chance of the presence of
a major anomaly is 90%
 Developmentalists have designated the
following 3 types of sequences:
 Malformation sequence
 Deformation sequence
 Disruption sequence

 Only 5% of congenital hand anomalies occur as part of a
recognized syndrome. Examples include the following:
 Holt-Oram syndrome - Cardiac defects (atrial septal defect
or ventriculoseptal defect) plus upper limb defects
 VATER syndrome - Vertebral (defects), (imperforate) anus,
tracheoesophageal (fistula), radial and renal (dysplasia)
 Fanconi syndrome - Pancytopenia, preaxial limb defects,
renal abnormalities, hyperpigmentation, short stature,
microcephaly, or mental retardation
 Nager syndrome - Preaxial aplasia associated with
mandibulofacial dysostosis (Treacher Collins syndrome)
 Roberts syndrome - Four deficient limbs plus cleft lip and
palate

Classification: ASSH
 Type I – Failure of formation:
 Transverse arrest
 Longitudinal arrest
 Type II - Failure of differentiation
 Soft tissue - Syndactyly, trigger thumb, Poland syndrome,
camptodactyly
 Skeletal - Various synostoses and carpal coalitions
 Tumorous conditions - Include all vascular and neurologic
malformations
 Type III – Duplication: May apply to whole limb,
mirror hand, polydactyly

 Type IV – Overgrowth: Includes conditions such
as hemihypertrophy and macrodactyly
 Type V – Undergrowth: Most commonly, radial
hypoplasia, brachysyndactyly, or brachydactyly
 Type VI - Constriction band syndromes: Streeter
hypoplasia - Occurs with or without
lymphedema; invs amputation at any level
 Type VII - Generalized anomalies and syndromes
 Unclassified category

Syndactyly : disorder of
separation
 Defn : variable fusion of soft tissue/or skeletal
elements of adjacent fingers
 Due to : failure of normal processes of digital
separation and web space formation

 Syndactyly is classified according to
 completeness (complete, incomplete)
 presence of bony union (simple, complex,
complex-complicated).

Presentation
 As
 Isolated
 Syndromic
 Associated syndromes:
 poland (brachiocephalic -subclav disruption)
 apert (FGFR2 acrocephalosyndactyly)
 Acrosyn(CRS)
 Considerations for examination

Management
 Surgery
 Indications
 Contraindications
 Principles of separation: from incision to
splintage

 Timing
 Order of release
 Commissure reconstruction
 Separation of digit
 Resurfacing of digit
 Paronychial fold

Complications
 Early
 Delayed

 Early surgery is defined as that performed within
the first 2 years of life
 Advantages
 Disadvantages

Polydactyly : disorder of
duplication
 They are
 Radial
 Ulnar
 Central
 Mirror hand, etc
 Old classification
 Preaxial/ postaxial
 Balanced/ unbalanced

Radial polydactyly
 Difference in black and other populations
 Classification :
 Iowa : 6+1, along a longitudinal level
 German : 10 levels of longitudinal axis and also
transverse axis
 Wassel :7 types
 Buck –Gramcko universal
 Etiology
 Imbalance between AER and mesoderm
 Cell division and apoptosis

classification of Stelling
(1963) and Turek (1967)
 Type I - Soft tissue attachment
 Type II - Bony articulation
 Type III - Ray duplication
 When it occurs in isolation, postaxial polydactyly has a
strong inheritance pattern (AD)
 Preaxial polydactyly most often presents as
triphalangeal thumb.

Presentation
 No two thumbs are alike
 Examine as per
 Radial or ulnar partner
 Each digit : nail, soft tissue, joint, MC head, its
collateral ligaments, web space configuration,
CMC joint, carpals

Other types
 Central
 Ulnar
 Mirror hand
 Triphalangeal thumb
 Are less common than radial polydactyly.

Treatment
 Primarily surgical
 The principle of surgical treatment is to ablate the most
useless digit and to reconstruct it.
 Correction of type III deformities involves a ray
resection.
 Complex central reduplications require individualized
treatment.
 Conversion to a 3-finger hand may be the best option in
some patients.

Bent finger in Greek

Failure of differentiation
 Types
 Congenital / Non-Congenital
 Sporadic / AD familial
 Flexion extension imbalance is caused by
 Abnormal intrinsic muscle anatomy:lumbrical
insertion
 Other contributing factors

Presentation & Diagnosis
 Age
 Deformity
 Order of frequency of occurrence
 Range of contractures
 Diagnosis-clinical/radiological
 D/D: DC, absent ext tendon,trigger

CRS
 Type of transverse deficiency
 Digit absent and proximal support str are
present to some degree
 Various eponyms used
 Incidence: 1:3000 to 1:15000
 Depends on environ / genetic factors

 Associated malformations in 40 to 80%
 2 types:
 Am Def Adh Mut complex : wuth craniofacial
 Am band disrup complex: only limbs
 Caused due to
 Defective germ plasm
 Early rupture of amnion
 Intrauterine trauma

 Classification
 Patterson’s
 Presentation :
 Time
 As rings, grooves,multiple extr
 As congenital amputation / acrosyndactyly
 D/D: cong amput , symbrachy, ADAM

Treatment
 Timing :
 In utero/Neonatal/When child walks/Complex
procedures/Before School age
 Principles of correction:
 Scar, digital length and jnt mobility, growth,
stump, web-space

 Specific management of
 Acrosyndactyly
 Balloon digits
 Sinuses
 Short thumb

 Classification depends on
 Deviation of hand
 Thumb , phalanges and metacarpal size
 Radial carpals
 Ist web space
 Ulnar and median innervated muscles
 Pollex abductus

Classification
 Type I : mild
 Type II : moderate
 Type III : severe, A,B,C
 Type IV : floating thumb(pouce flottant)
 Type V : absent(with and without radius)
 Others :
 Central defic
 CRS
 Five fingered hand
 Radial polydactyly
 Sydromic short skeletal thumb ray

Treatment
 Timing : early vs late
 Principles
 CMC jt
 MP jt stability
 2/3 jt mobility
 Web space
 Motors for MP & IP jt
 Opposition

 Management as per severity of situation
 Consists of Z-plasties, local and distant flaps ,
tendon transfers, reconstruction of pulleys
and eventually pollicisation

Pollicisation
 Principles
 Racquet shaped incision
 Dissection of intrinsics & A1 pulley
decompression
 Skeletal shortening with metacarpal osteotomy
 Tendon and intrinsic muscle rebalancing & final
positioning of thumb
 Broad web reconstruction and closure
 Diligent post-op regime

Some terms to know better….
 Symbrachydactyly or atypical cleft hand
 Symphalangism
 Brachysymphalangism
 Polysyndactyly or central polydactyly
 Wind blown hand
 Macrodactyly or gigantism

common congenital deformities of hand

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