Principles of management

Congenital Hand
anomalies

Christian Dumontier, MD, PhD

FWI- Guadeloupe
 The aim of surgery

• Provide the child with the best functional and

cosmetic outcome possible.

• Best functional outcome will provide the child with

normal grasp patterns for both single and bimanual
tasks.
 Contraindications to surgery ?

• « Absolute » : if surgical
reconstruction will interfere with
function (ex: centralization
procedure in a patient with poor
elbow function or with a primary
postaxial pinch).
 Contraindications to surgery ?
• Relative : if reconstruction will only
improve cosmesis and not alter
function (ex: separating functionless
or stiff digits),

• Relative: In adult patients who

function well with minor cosmetic
deformity.

• Relative: Cultural aspects should be considered. A

malformation considered intolerable in one culture
may be tolerable or even desirable in another.
 How to handle patients with hand
anomalies (congenital differences)

• Correct diagnosis

• May need the help of a

pediatrician +/- genetician
Apert
• Knowledge of normal
embryology (see
www.diuchirurgiemain.org)

Referral to a specialized hand clinic where psychological, genetic and hand therapy input is available
and should be arranged as soon as possible after diagnosis.
 How to handle patients with hand
anomalies (congenital differences)

• Treatment plan

• Evaluation of deficit (may be minor)

• Non-surgical treatment (needs parents’ cooperation)

• Timing of surgery if needed

• Psychological coping (both parents and patient)

Referral to a specialized hand clinic where psychological, genetic and hand therapy input is available
and should be arranged as soon as possible after diagnosis.
 Correct diagnosis

• Isolated anomaly ?

• Associated anomalies ? Classification

• Syndromic disease ?
Classification

• IFSSH classification derives

from Swanson (1964)

• Very questionable
(descriptive, difficulty to
classify many presentations,
do not take into account the
genetical basis,…)
 Descriptive classification is difficult owing to
our limited knowledge of the pathophysiology

• Bulsulfan in rats

• Evaluation of embryos at days 12

to 21

• Similar abnormal clefts in the

embryos accounted for the
development of central deficiency
(Type I), polydactyly (Type III),
and syndactyly (type II) - should
now be classified as a single
category- « abnormal induction of
digital rays «
➡duplication; ➤ syndactyly; * cleft
Naruse T et al. Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: A common mechanism of disruption
leads to divergent phenotypes . Develop. Growth Differ. (2007) 49, 533–541
 Descriptive classification is difficult owing to
our limited knowledge of the pathophysiology

• Radial longitudinal
deficiency (RLD)
represents a spectrum of
abnormalities from
thumb hypoplasia alone
to the complete absence
of the radius.

James MA, Green HD, McCarroll HR Jr, et al. The association of radial deficiency with thumb hypoplasia. J Bone Joint Surg Am
2004;86(10):2196–205.
James MA, McCarroll HR Jr, Manske PR. The spectrum of radial longitudinal deficiency: a modified classification. J Hand Surg
[Am] 1999;24(6): 1145–55.
 Evaluation of deficit ?
• Most children do very well with their congenital
differences

• A stable, sensate and mobile thumb is essential for a

competent hand function.

• If the thumb is competent, then the focus can turn to the

other digits.

• Other upper limb anomalies should be noticed (elbow

function, …)
 Timing of surgery ?
• Urgent: No, except for ring constriction syndrome with
severe distal oedema and neonatal Volkmann’s ischaemic
contracture.

• Very early: if it can be done under local anaesthesia in

neonates (ex: some extra digits, release of minor
acrosyndactyly (the distal joining of finger tips in ring
constriction syndrome).

• Early: (<1 year) is for the separation of syndactylized

border digits (the first web space).
 Surgery means general anesthesia
• « …The actual risk of a fatal event under anesthesia (for an
otherwise healthy child) is about 1 in 300,000. To put that number
into perspective, the risk of death from an unexpected reaction to
penicillin is about 1 in 80,000. »

• « …Children exposed to general anesthesia before 4 years had 17%,

34%, and 23% increased odds of being developmentally high risk;
or scoring below the national minimum standard in numeracy and
reading, respectively. Although the risk for being developmentally
high risk and poor reading attenuated for children with only 1
hospitalization and exposure to general anesthesia, the association
with poor numeracy results remained… »

Schneuer FJ, Bentley JP, Davidson AJ, Holland AJ, Badawi N, Martin AJ, Skowno J, Lain SJ, Nassar N. The impact
of general anesthesia on child development and school performance: a population-based study. Paediatr Anaesth. 2018
Jun;28(6):528-536.
 Timing of surgery ?
• As a rule, surgery is possible when he following criteria are
satisfied:

• The risk of general anaesthesia is minimal or as low as

possible given any other organ anomalies;

• Knowledge of the severity of other anomalies is apparent and

they have been treated where possible;

• Size of the hand structures is such that surgery is possible;

• Sufficient time has elapsed so that the benefit of splinting has

had time to be effective.
•
 Timing of surgery ?
• In the majority of children surgery is performed
between the ages of 1 and 2 years.

• Surgery performed before school age makes recovery

easier and faster.

• May be postponed if co-operation and compliance are

essential.

• Some anomalies can be treated late (trigger thumb,

camptodactyly,…)
 Psychological issue
• Even if many malformations lead to minor functional
deficits, they can pose a concern for the parents and
lead to psychological distress in children.

• The attitude of the child’s parents affects their long-

term outcome.

• Parents often have difficulty making decisions about

surgery on behalf of their new baby. This can lead to
parental disharmony and feelings of guilt.
 Common hand anomalies ?
• Second to congenital heart disease,

• Congenital anomalies of the upper extremity are

noted in approximately 2-3 per 1000 live births.

• Incidence varies by country due to higher incidence

of certain malformations in patients of certain
ethnic backgrounds, such as polydactyly in those of
African descent or amniotic bands in Japanese.
 Real incidence in population studies ?
Prevalence looks at
existing cases, while
incidence looks at new
• 5-year Edinburgh birth registry cases.

• Prevalence of babies born with any limb anomalies

to be 30 cases per 10,000 live births and the
incidence of upper limb anomalies to be 22.5 cases
per 10,000 live births.

• Of those with upper limb anomalies, 35% had

another non–upper limb anomaly.

Rogala EJ, Wynne-Davies R, Littlejohn A, Gormley J. Congenital limb anomalies: frequency and aetiological factors.
Data from the Edinburgh Register of the Newborn (1964-68). J Med Genet. 1974 Sep. 11(3):221-33
 Real incidence in population studies ?
• An 11-year total population study of Western Australia

• Prevalence of babies born with upper limb anomalies was 19.76 cases
per 10,000 live births.

• Forty-six percent of those affected had another non-hand congenital

anomaly.

• Fifty-two percent had bilateral hand anomalies,

• 17% had multiple different hand anomalies.

• No significant differences in prevalence or frequency of anomalies

were found between whites and people of color, left and right sides,
and in babies who survived and those who died shortly after birth.

Giele H, Giele C, Bower C, Allison M. The incidence and epidemiology of congenital upper limb anomalies: a total
population study. J Hand Surg Am. 2001 Jul. 26(4):628-34
 Real incidence in population studies ?
• An 11-year total population study of the Stockholm region of Sweden
found an incidence of congenital anomalies of the upper limb of 21.5
cases per 10,000 live births.

• 54 % were boys

• Right side only in 30%, the left side only in 33%, and both sides in
37%.

• Non-hand anomalies were recorded in 23% of the children with

congenital anomalies of the upper limb, most commonly in the lower
limbs.

• In 17% of the effected children, there was a known occurrence among

relatives.

Ekblom AG, Laurell T, Arner M. Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007:
a total population study from Stockholm, Sweden. J Hand Surg Am. 2010 Nov. 35(11):1742-54.
 Real incidence in population studies ?
• 1993-2005 period

• 419 cases (234 male, 185 female) of upper limb deficiencies

• Incidence was 5.56 per 10,000 births and 5.25 per 10,000 live births.

• Most common: radial ray deficiency (138), undergrowth (91), upper limb defects due
to constriction band syndrome (51), central ray deficiency (41), and ulnar ray
deficiency (33).

• Additional birth defects were found in 60% of these children.

• Prevalence of upper limb defects in relatives of the census population was 2% (11 of
419).

• Perinatal mortality was 14%.

• Infant mortality among children with upper limb deficiencies was 137 per 1,000 live
births, compared with an overall infant mortality of 3.7 per 1,000 live births in Finland.
•

Koskimies E, Lindfors N, Gissler M, Peltonen J, Nietosvaara Y. Congenital upper limb deficiencies and associated
malformations in Finland: a population-based study. J Hand Surg Am. 2011; 36(6): 1058–1065.
 Real incidence in population studies ?

• Midwestern USA : Of 480 extremities with a

malformation, 62% had anomalies of the hand plate
alone, with radial polydactyly (15%),
symbrachydactyly (13%), and cleft hand (11%)
being the most common of these.

• New York registry: 27,2 cases / 10,000 live births

(upper extremity). Polydactyly, syndactyly and
reduction defects were the most frequent
Goldfarb CA, Wall LB, Bohn DC, Moen P, Van Heest AE. Epidemiology of congenital upper limb anomalies in a midwest
United States population: an assessment using the Oberg, Manske, and Tonkin classification. J Hand Surg Am. 2015 Jan.
40 (1):127-32.e1-2.
Goldfarb CA, Shaw N, Steffen JA, Wall LB. The Prevalence of Congenital Hand and Upper Extremity Anomalies based
upon the New York Congenital Malformations Registry . J Pediatr Orthop. 2017 March ; 37(2): 144–148
 As a summary

Incidence 5,5-30 / 10,000 births

Associated upper limb anomalies 17 %

Sex 54% ⚦

Bilateral 37-52 %

Relatives up to 17 %

Associated congenital anomalies 23- 46 %

The 1-year mortality of patients with hand malformations is 14% to 18% due to associated
malformations involving the heart, kidneys, or tracheoesophageal complex
 Radial club hand
4,6 %
Brachydactyly Hypoplastic thumb
5,2 % 3,5 %
Clinodactyly Central defects
5,5 % Polydactyly
3,9 %
Amputation 14,6 %
6,8 %
Camptodactyly
6,9 %

Syndactyly
18,2 %
Other
30,8 %

% of live births with congenital defects