Congenital deformities of the Upper Limb

Courtesy: Dr Rishi Dhir, FRCS Tr and Orth, Consultant Upper Limb Surgeon, Princess Alexandra Hopsital, Harlow, UK

INITIAL EVALUATION

History

• Detailed history of presenting deformity.

• Antenatal history:

  • Maternal illness

  • Drug exposure

  • Radiation exposure

• Determine whether the anomaly is:

  • Isolated

  • Part of a syndrome

• Reason for presentation:

  • Functional limitation

  • Cosmetic concern

  • Associated systemic illness

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CLINICAL ASSESSMENT

• Identify whether the deformity is:

  • Simple or complex

  • Soft tissue only

  • Involving bone and joints

• Evaluate limb function and range of motion.

• Assess involvement of elbow, wrist, hand, and digits.

• Determine whether referral is to a tertiary care center.

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INVESTIGATIONS

• Blood investigations when indicated.

• Chromosomal analysis and genetic testing.

• Ultrasonography of:

  • Kidneys

  • Heart

• Echocardiography if syndromic association is suspected.

• Radiographs to assess skeletal involvement.

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MULTIDISCIPLINARY APPROACH

• Paediatric orthopaedic surgeon

• Hand surgeon

• Geneticist

• Paediatrician

• Cardiologist and nephrologist when required

• Physiotherapist and occupational therapist

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CLASSIFICATION OF CONGENITAL UPPER LIMB ANOMALIES

Swanson Classification

1. Failure of formation

2. Failure of differentiation

3. Duplication

4. Undergrowth

5. Overgrowth

6. Constriction band syndrome

7. Skeletal dysplasia

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RADIAL CLUB HAND (RADIAL LONGITUDINAL DEFICIENCY)

Overview

• Caused by deficiency of the radial side of the forearm.

• Associated with abnormalities of the sonic hedgehog gene pathway.

• Frequently associated with:

  • Renal anomalies

  • Cardiac anomalies

  • Gastrointestinal malformations

  • Spinal anomalies

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Associated Conditions

• VACTERL association

• Fanconi anemia

• Holt–Oram syndrome

• Thrombocytopenia absent radius syndrome

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Clinical Features

• Radial deviation of the wrist

• Shortened forearm

• Absent or hypoplastic thumb

• Incidence approximately 1 in 100,000

• Represents a wide spectrum of severity

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Classification (Bayne and Klug)

• Type 1: Distal radial epiphysis absent

• Type 2: Both proximal and distal radial epiphyses absent

• Type 3: Partial absence of radius

• Type 4: Complete absence of radius

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Management Goals

• Central positioning of the hand over the ulna

• Improvement of cosmesis

• Optimization of function

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Prerequisites for Surgery

• Functional elbow joint

• Functioning biceps muscle

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Treatment Strategy

• Less than 6 months of age:

  • Serial casting

  • Passive stretching

• By 1 year of age:

  • Centralization or radialization of the wrist

• Before 2 years of age:

  • Thumb reconstruction

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Centralization Procedure

• Bilobed incision

• Soft tissue release on the radial side

• Tendon transfer from radial to ulnar extensors

• Stabilization using a single transcarpal Kirschner wire

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Challenges

• High rate of recurrence

• Need for prolonged splinting and follow-up

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SYNDACTYLY

Definition

• Congenital fusion of adjacent digits.

• Results from failure of differentiation.

• Common congenital hand anomaly.

• Male predominance.

• Caused by failure of programmed cell death.

• Autosomal dominant inheritance in isolated cases.

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Associated Syndromes

• Apert syndrome

• Poland syndrome

• Acrosyndactyly

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Classification

• Simple or complex (bone involvement)

• Complete or incomplete

• May involve accessory phalanges

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Management

• Surgical separation of fused digits.

• Goals:

  • Increase hand span

  • Prevent growth tethering

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Timing of Surgery

• Acrosyndactyly: neonatal period

• Simple syndactyly: around 1 year of age

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Surgical Principles

• Avoid separating adjacent sides simultaneously.

• Border digits separated first, preferably before 6 months.

• Central digits separated later, between 1 and 2 years.

• Use zig-zag skin flaps to prevent linear scarring.

• In bilateral hand involvement:

  • Preserve grasp and function

  • Staged procedures recommended

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Complications

• Web creep

• Necrosis of dorsal skin flaps

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CLINODACTYLY

Definition

• Congenital curvature of a digit in the radioulnar plane.

• Commonly associated with Down syndrome.

• Autosomal dominant inheritance.

• Usually does not cause functional impairment.

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Types

1. Minor angulation

2. Minor angulation with shortening

3. Significant angulation with delta-shaped phalanx

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Management

• Splinting is ineffective.

• Surgery indicated for type 3 deformity:

  • Excision of abnormal phalanx or corrective osteotomy

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KIRNER DEFORMITY

Definition

• Also known as dystelephalangy.

• Characterized by radiovolar curvature of the terminal phalanx.

• Commonly affects the little finger.

• Usually cosmetic with minimal functional impact.

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KEY POINTS

• Early diagnosis allows better functional outcomes.

• Timing of intervention is critical.

• Preservation of growth potential and joint function is essential.

• Family counseling and long-term follow-up are integral components of care.