Congenital Hand

Anomalies
dr. Muchtar, SpBP

Basic Terms
Congenital:

present at birth

Does not denote etiology

may or may not be genetic

Genetic:

Determined by genes
Anomaly: A structural defect

Major anomalies, minor anomalies, normal

variants

Basic Terms
Malformation:

A primary structural defect

in tissue formation
Abnormal development (morphogenesis) of tissues
due to genetic or teratogenic causes

Deformation:

result of abnormal
mechanical forces acting on normally
developed tissue
Disruption: represents an interruption of
development of otherwise normal tissue.

Basic Terms

Sequence (ms, ds, ds): A pattern of multiple

anomalies derived from a single known or
presumed cause
ie Potter Sequence (Renal & Lung), Pierre-Robin Sequence

Association: a nonrandom occurrence of multiple

malformations for which no specific or common
etiology has been found
ie VATERL Association

Syndrome: a recognized pattern of anomalies with

a single, specific cause
ie Holt-Oram Syndrome (mutation on Chromosome 12q) ,
Down Syndrome (trisomy 21)

Epidemiology / Etiology

Major anomalies evident at birth occur in

approx. 2% of live births.
Some major anomalies present later in life
of all aborted fetuses prior to 20 wks gest. have a
chromosomal anomaly (esp. Turners and trisomies)
66% of major anomalies have no known etiology

Minor anomalies present in 20% of infants

with major anomalies
May contribute to a recognizable pattern which may aid
in diagnostic impression
Most frequent in the face, distal extremities

 Phenotypic Variants:

Helpful to look at parents, racial/ethnic

background
Mongolian spots

Common in hispanics, blacks, but only 2% of whites

Macrocephaly

Can be a sign of hydrocephalus

Can be familial measure the parents head sizes

Etiology of Anomallies

Multifactorial
Mendelian Inheritance
Chromosomal
Teratogenic

Multifactorial
Occur when one or more genetic factors

combine with environmental factors.

Includes congenital heart disease, neural tube
defects, cleft, clubbed foot, and congenital hip
dysplasia

Mendelian and Chromosomal

Mendelian
Responsible for causing 0.4% of newborns to have
major malformations
Mostly autosomal dominant traits

Chromosomal
Represent 0.2% of all newborns with major
malformations
10% of infants with major malformations have
chromosomal disorders

Teratogenic Forces

Drugs, chemical exposures, maternal

infection, maternal metabolic state (ie
diabetes), mechanical forces
Exposure usually most significant during 1 st 212 weeks

Congenital Hand deformation

Insidens : 1 : 626 (Conway, 1956, New

York). Others : 0,7%

Clinical significance
6% births have anomaly
Infant deaths related to congenital

anomaly in 20%
Limb deficiency in 3-8 per 1000 births

Embryology Upper Extremity

4 8 weeks
Three signaling centers

1. The apical ectoderm ridge (proximal to

distal direction)
2. The zone of polarizing activity (anterior
to posterior /radioulnar direction)
3. The Wingless type signaling center
(dorsal to ventral axis configuration)

Classification (Swanson, 1968)

Type I Failure of formation

Type II Failure of differentiation
Type III Duplication
Type IV Overgrowth
Type V Undergrowth
Type VI Constriction band syndrome
Type VII Generalized anomalies and
syndrome

Type I failure of formation

Transvere arrest : shoulder to phalanx
2. Longitudinal arrest :
a. Preaxial : hypoplasia of the thumb or
radius
b. Central : typical (V shape deformity)
& atypical cleft hand (lobster
hand)
1.

c. Postaxial : - Hypoplasia of the ulna or

hypothenar
d. Intercalated longitudinal arrest :
: -Phocomelia

1. Transverse arrest

Amelia
Transverse arrest at forearm level
Transverse arrest at the carpal, metacarpal, and
phalangeal level

2. Longitudinal arrest
a. Preaxial deficiency
The classification (O'Rahilly,1951),
Type I - Short radius, no radial bowing or
deviation, no treatment
Type II - Hypoplastic radius, rare, no treatment
Type III - Partial absence with fibrous anlage
most common; requires centralization procedure
Type IV - Total absence, 2nd most common;
elbow joint usually deficient; soft tissue release
and centralization

Classification

A, Type Ishort distal

radius.
B, Type IIhypoplastic
radius.
C, Type IIIpartial
absence of radius.
D, Type IVtotal
absence of radius

Total absence of radius

Treatment
Types I and II do not require treatment
In the severe forms, some patients should not
be operated on, including adult patients well
adapted to the deformity, those with severe
associated malformations, patients with mental
retardation such that hand function is immaterial,
those with inadequate elbow flexion, and those
with tight neurovascular structures

1.
2.
3.
4.

Serial splintage, casts, and passive

stretching are useful to maintain soft
tissue length
Surgical management :
Soft tissue release
Centralization of the carpus
Pollicization of the index finger
Tendon transfers and arthrodesis of the
wrist

b. Central Longitudinal arrest

The typical cleft hand
Varying degree of long ray absensene :
most commonly the phalanges are
missing, & metacarpals are present.
Often bilateral
Usually inherited
Associated with cleft lip & palate

b. Central Longitudinal arrest

The typical Cleft hand
Three generations of typical
central deficiency with different
degrees of expression. Both of
the grandmother's hands
(bottom) and the mother's left
hand (center) are missing only
the long finger. The mothers
right hands and both of the
infants finger also missing the
adjacent index and/or ring
finger

b. Central Longitudinal arrest

The Atypical Cleft Hand (lobster hand)
Index, long & ring fingers are absent,
metacarpals are present
A form of Symbrachydactyly
Not associated with systemic conditions
Not inherited
Usually unilateral, & sporadic

The right upper

extremity has an
atypical cleft hand, a
form of
symbrachydactyly.

c. Postaxial : - type I : Deficient ulna,

minimal deformity
- type II : Partial absent
- Type III : Total absent
- Type IV : Humeroradial
synostosys; short
limb

A three-year-old child
with ulnar deficiency
of the right upper
extremity. The elbow
is fused, and the hand
has two fingers and
no thumb.

d. Intercalated longitudinal arrest

-- various type of phocomelia
a functional terminal element is always
present.
The types of phocomelia : (1) the hand
attaches to the shoulder (forearm and
arm deficient), (2) forearm attaches to
the shoulder (arm deficient), and (3) the
hand attaches to the arm (forearm
deficient).

Intercalated Phocomelia

Type II Failure of differentiation

Soft tissue - Syndactyly, trigger thumb,
Poland syndrome (Pectoralis may&min -,
breast hyploplasia), camptodactyly
Skeletal - Various synostosis and carpal
coalitions
Tumorous conditions - Include all vascular
and neurologic malformations

 Syndactyly

- Failure of separation 2 or more digits

- Incomplete or complete
- Simple, complex, complicated
- Most common in white, male children
- sporadically or autosomal dominant trait

 Trigger thumb

- Flexion deformity of the interphalangeal

joint cause by constriction of the A 1
pulley
- Can occur in other fingers
- Spontaneous resolution > 30%

 Camptodactyly

- Painless flexion contracture of the

proximal interphalangeal joint of the small
finger
- Gradually progressive
- Occur in < 1% population
- Billateral in 1/3 patients

A sixteen-year-old boy
with otopalatodigital
syndrome and bilateral
hand camptodactyly.
Flexion deformities of
all fingers are present;
they are most severe
in the ring and small
finger

Type II - Failure of differentation

(Vascular malformations)

Type III - Duplication

Whole limb, mirror hand (ulnar dimelia),
polydactyly

 Polydactyly

- Most frequently reported

- Radial, central, or ulnar polydactyly
- Central or ulnarpolydactyly : often
autosomal dominant trait,

Type IV - Overgrowth
Macrodactyly, hemihypertrophy
Macrodactyly :

- unknown etiology
- 1 or multiple fingers
- Radial fingers more common
- Usually isolated abnormality, can occur
with neurofibromatosis or KlippelTrenaunay-Weber syndrome

Type V - Undergrowth
Thumb hypoplasia, radial hypoplasia,

brachysyndactyly, brachydactyly.

Type VI- Constriction band

syndromes
Simple constriction ring
Constriction ring with distal deformity

(lymphedema)
Contriction ring with distal soft tissue
fusion
Intrauterine amputation

The Goal For Treatment

Ability to orient hand in space
Sensate skin coverage
Grasping power
Precise handling of objects

Treatment :
- Stretching
- Splinting or casting
- Physical therapy
- Prosthetic
- Surgery

TIMING OF SURGERY
Early surgery

: first 2 years of life

- Advantages : full potential for growth
and development , improved scarring,
anatomic adaptation of the reconstructed
part (eg, broadening of pollicized index
finger), and reduced psychologic scarring
- Disadvantages : technical difficulty &
anesthetic risk

Most surgeons perform in the second

year of life but no later than when the the
patient enters school.

AGE
INFANCY

6 MONTHS -1 YEAR

CONGENITAL HAND ANO.

Ulnar polydactyly
Strang. Amniotic bands
Radial polydactyly
Central polycactyly
Border syndactyly
Complex osseous synd.
Radial longhitudinal def.

AFTER 1 YEAR

Simple syndactyly
Ulnar longitudinal def.
Central longitudinal def.
Trigger thumb

The End