Invited Article Hand Surgery 2015;20(3):336-342 • DOI: 10.

1142/S0218810415400055

The OMT Classification of Congenital Anomalies

of the Hand and Upper Limb
Michael A. Tonkin, Kerby C. Oberg*
Department of Hand Surgery & Peripheral Nerve Surgery, Royal North Shore Hospital, The Children’s Hospital
at Westmead, University of Sydney, Sydney, Australia, *Divisions of Human Anatomy and Pediatric Pathology,
Loma Linda University & Children’s Hospital, California, USA

The Oberg, Manske and Tonkin (OMT) Classification of congenital anomalies of the hand and upper limb uses dysmorphological
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terminology, placing conditions in one of three groups: Malformations, Deformations and Dysplasias. The main group, Malforma-
tions, is further subdivided according to whether the whole of the limb is affected or the hand plate alone, and whether the primary
insult involves one of the three axes of limb development and patterning or is non-axial. The common surgical diagnoses, such as
thumb duplication and thumb hypoplasia, are then placed within this framework. Recently the International Federation of Societies
for Surgery of the Hand Scientific Committee for Congenital Conditions approved the OMT Classification as a timely and appropri-
ate replacement of the previously accepted Swanson Classification. This review charts the development of and modifications to
the OMT Classification and its current status.

Keywords: Congenital, Hand, Upper limb, Classification

INTRODUCTION priate, children affected by such conditions.

Congenital anomalies in the hand demand a repro- HISTORICAL PERSPECTIVE

ducible and consistent terminology, a universal language
which allows discussion of complex clinical entities, in-
dications for treatment, and comparisons of results.
Optimally, a classification of congenital hand anoma-
lies would be based on aetiology, giving some indica-
tion as to the site in the molecular pathway and/or the
anatomical site in the developing limb bud at which the
error occurs and the timing at which the error occurs.
The terminology should be understandable by geneti-
cists, anatomists, pathologists and surgeons, and should
allow an ease of explanation to parents and, when appro-
Received: Feb. 2, 2015; Revised: Jun. 29, 2015; Accepted: Jun. 30, 2015
Correspondence to: Michael A. Tonkin
Department of Hand Surgery & Peripheral Nerve Surgery, Royal North
Shore Hospital, St Leonards. 2065, Australia
Tel: +61 2 9463 1820
E-mail: mtonkin@med.usyd.edu.au
Isidore Saint-Hilaire, in 1832, is credited with pre-
senting one of the first classifications of congenital upper
limb and hand anomalies.1) This classification introduced
such terms as “phocomele” (seal-limb), “hemimele” (part
of the limb missing) and “ectromele” (limb absence).
In 1961, Frantz and O’Rahilly introduced the concepts
of terminal and intercalary defects based on skeletal ap-
pearance.2) They added the sub-categories of transverse
and longitudinal deficiencies and referred to the involve-
ment of pre- or post-axial limb involvement. Kelikian’s
subsequent text in 1974 provides a thorough summary
of the development of classifications to that date.3) There
were differences in definitions of terms between German
and American scholars and some confusion remains to-
day. Kelikian acknowledged that “We have not as yet at-
tained enough latitude of knowing about congenital hand
anomalies to formulate a comprehensive classification”.
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Hand Surgery • Vol. 20, No. 3, 2015 • www.jhs-ap.org
A B
A B
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Swanson attempted to introduce a system which
would be suitable to all. With colleagues Barsky and
Entin in 1968, he produced the basis of the Swanson
Classification which was subsequently accepted by the
International Federation of Societies for Surgery of the
Hand (IFSSH) and the American Society for Surgery of
the Hand (ASSH) as the appropriate classification for
hand surgeons.4,5) This system was, more or less, ad-
opted universally. It provided some indication as to the
aetiology of the disorder for those conditions classified
under Failure of Formation or Failure of Separation.
The remaining four groups – Duplication, Undergrowth,
Overgrowth and Constriction Band Syndrome – relied
on clinical appearance rather than cause. Seventh and
eighth categories, Generalised Skeletal Anomalies and
Unclassifiable Conditions, were subsequently added.
The Swanson/IFSSH Classification served us well for
many years and reflected the understanding of the em-
bryological limb development that was available at the
time of its introduction. However, with increasing under-
standing of limb embryology at a molecular level, con-
tradictions in the Swanson Classification have become
more apparent. Furthermore, it does not easily allow
modifications which reflect the expanding knowledge of
current researchers. Many conditions, such as thumb du-
plication and thumb hypoplasia, are failures in formation
and/or differentiation, but are classified as a Duplication
Fig. 1. (A) Thumb duplication and
(B) thumb hypoplasia: Examples of
conditions which may be classified
within differing groups of the Swanson
Classification. In the OMT Classification
these are Malformations affecting the
hand plate (duplication) and the hand
plate or whole upper limb (thumb hy­
poplasia), both involving the radial-ulnar
axis.
Fig. 2. (A, B) Two forms of cleft hand.
A Failure of Formation (central longi­
tudinal deficiency) in the Swanson
Classification; an Abnormal Induction
of Rays according to the Japanese mo­
dification of the Swanson Classi­fication;
and a Malformation affecting the hand
plate alone in the OMT Classi­fication.
and Undergrowth respectively (Fig. 1). The Japanese
Society for Surgery of the Hand (JSSH) added a further
category within the Swanson Classification – “Abnormal
induction of rays” – to cater for the observation that cleft
hand complex includes central polydactyly (previously
classified within the category of Duplication), clefting
(previously central longitudinal deficiency – Failure of
Formation) and syndactyly (previously Failure of Sepa-
ration) (Fig. 2).6) Whether any particular condition is a
failure of formation, or a failure of differentiation or an
abnormal induction may well be a dated and unhelpful
concept.
It has become clear that a system that is partly based
on appearance is unable to incorporate changes based on
our increasing knowledge of aetiology and causation at a
molecular level.
DEVELOPMENT OF THE
OMT CLASSIFICATION
A number of researchers questioned the continued
applicability of the Swanson/IFSSH Classification.7-10)
Luijsterburg et al. in 2003, advised charting all anoma-
lies of any one limb, preferring this approach in an at-
tempt to capture and document all anomalies, rather than
being restricted by specific classifications.11) Manske
and Oberg transferred those conditions listed under
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Michael A. Tonkin and Kerby C. Oberg. The OMT Classification of Congenital Anomalies of the Hand and Upper Limb

Proximodistal asymmetry

Fgfs
(AER)

Stg 13 Stg 15 Stg 17

Radioulnar asymmetry
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Fgfs
(AER)

Shh
(ZPA)

Stg 13 Stg 17 Stg 21

Dorsovolar asymmetry Rad Rad

Fig. 3. Diagrammatic representation of
Do Wnt7a
the signal centres within the developing
AER Do Vo limb bud. Proximodistal outgrowth is
Lmx1b
PZ AER PZ AER controlled by the apical ectodermal
PZ
Di ridge; radioulnar polarity is controlled
Pr
Pr Di
A
by the zone of polarizing activity; and
ZP
Vo ZPA dor­soventral polarity is controlled by the
Uln Uln
dorsal ectoderm.

Swanson’s Failure of Development and Failure of Sepa-

ration categories into a system which gave indication of
the primary axis of development that was involved.10)
However, they retained those Swanson categories which
were defined by appearance alone. Subsequently, Oberg,
Manske and Tonkin expanded upon this work.12) Their
system, the OMT Classification, separated all anomalies
into Malformations – an abnormal formation/differen-
tiation of tissues; Deformations – an alteration of tissue
which is already formed; and Dysplasias – an abnormal
organisation of cells into tissue. These dysmorphological
terms offer a sound basis for understanding the aetiol-
ogy of congenital limb anomalies. Malformations, which
make up a preponderance of congenital hand and upper
limb conditions, are sub-divided according to whether
the insult affects the upper limb as a whole or the hand Fig. 4. Constriction ring syndrome - Deformation: an alteration to formed
plate alone, and whether or not it primarily involves one tissue. Note the acrosyndactyly demonstrated by the probe.
of the three axes of growth and patterning – proximal-
distal outgrowth, antero-posterior (radio-ulnar) pattern-
ing, or dorsal-ventral patterning (Fig. 3). Separation constriction ring syndrome in which an insult occurs to
of Malformations from Deformations and Dysplasias tissue that has already formed (Fig. 4), or those hyper-
allows a separate classification of conditions such as trophies and tumours which result from an abnormal
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Hand Surgery • Vol. 20, No. 3, 2015 • www.jhs-ap.org

Table 1. OMT Classification of Congenital Hand and Upper

Limb Anomalies

I. MALFORMATIONS

A. Abnormal axis formation/differentiation–entire upper limb

1. Proximal-distal axis
i. Brachymelia with brachydactyly
ii. Symbrachydactyly
a) Poland syndrome
b) Whole limb excluding Poland syndrome
iii. Transverse deficiency
a) Amelia
b) Clavicular/scapular
c) Humeral (above elbow)
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d) Forearm (below elbow)

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e) Wrist (carpals absent/at level of proximal carpals/at level of

Fig. 5. Macrodactyly - Dysplasia: an abnormal organisation of cells into
distal carpals) (with forearm/arm involvement)
tissues.
f) Metacarpal (with forearm/arm involvement)
g) Phalangeal (proximal/middle/distal) (with forearm/arm
involvement)
organisation of cells into tissues (Fig. 5). The surgical di- iv. Intersegmental deficiency
agnoses, familiar to all of us, retain their identity within a) Proximal (humeral – rhizomelic)
b) Distal (forearm – mesomelic)
this system.
c) Total (Phocomelia)
The OMT Classification has undergone a number of v. Whole limb duplication/triplication
assessments and modifications. Those of Tonkin et al.13), 2. Radial-ulnar (anterior-posterior) axis
Ekblom et al.14), and Goldfarb et al.15) have confirmed i. Radial longitudinal deficiency - Thumb hypoplasia
the validity of inter- and intra-observer documentation (with proximal limb involvement)
of congenital conditions within the classification system. ii. Ulnar longitudinal deficiency
Members of an international Congenital Hand Anoma- iii. Ulnar dimelia
lies Study Group (CHASG) and others have offered iv. Radioulnar synostosis
advice regarding modification of the OMT system. No v. Congenital dislocation of the radial head
classification system is perfect. However, the OMT sys- vi. Humeroradial synostosis - Elbow ankyloses
vii. Madelung deformity
tem would appear to be flexible and able to respond to
3. Dorsal-ventral axis
new developments and additional conditions. The clas- i. Ventral dimelia
sification of some conditions remains controversial. For a) Furhmann/Al-Awadi/Raas-Rothschild syndromes
these the principle of best fit is utilised. b) Nail Patella syndrome
ii. Absent/hypoplastic extensor/flexor muscles
MODIFIED OMT CLASSIFICATION 4. Unspecified axis
i. Shoulder
The modified OMT Classification incorporates a) Undescended (Sprengel)
improvements which have followed the assessments b) Abnormal shoulder muscles
referred to in the preceding section (Table 1). It is in- c) Not otherwise specified
ii. Arthrogryposis
tuitively logical to include those conditions involving
B. Abnormal axis formation/differentiation–hand plate
an “Unspecified Axis” within both of the sub-groups of 1. Proximal-distal axis
“Malformations affecting the whole upper limb” and i. Brachydactyly (no forearm/arm involvement)
“Malformations affecting the hand plate alone”. In the ii. Symbrachydactyly (no forearm/arm involvement)
original version, these anomalies involving an unspeci- iii. Transverse deficiency (no forearm/arm involvement)
fied axis regardless of whether they involve the whole a) Wrist (carpals absent/at level of proximal carpals/at level of
limb or simply the hand plate, were classified together distal carpals)
in a separate sub-group. The system has been expanded. b) Metacarpal
Some conditions have been moved from one sub-group c) Phalangeal (proximal/middle/distal)
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Michael A. Tonkin and Kerby C. Oberg. The OMT Classification of Congenital Anomalies of the Hand and Upper Limb

Table 1. Contineud Table 1. Contineud

2. Radial-ulnar (anterior-posterior) axis 4. Skeletal

i. Radial deficiency (thumb - no forearm/arm involvement) i. Osteochondromatosis
ii. Ulnar deficiency (no forearm/arm involvement) ii. Enchondromatosis
iii. Radial polydactyly iii. Fibrous dysplasia
iv. Triphalangeal thumb iv. Epiphyseal abnormalities
v. Ulnar dimelia (mirror hand – no forearm/arm involvement) v. Others
vi. Ulnar polydactyly
3. Dorsal-ventral axis IV. SYNDROMES*
i. Dorsal dimelia (palmar nail) A. Specified
ii. Ventral (palmar) dimelia (including hypoplastic/aplastic nail) 1. Acrofacial Dysostosis 1 (Nager type)
2. Apert
4. Unspecified axis
3. Al-Awadi/Raas-Rothschild/Schinzel phocomelia
i. Soft tissue
4. Baller-Gerold
a) Syndactyly 5. Bardet-Biedl Carpenter
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b) Camptodactyly
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6. Beales
c) Thumb in palm deformity 7. Catel-Manzke
d) Distal arthrogryposis 8. Constriction band (Amniotic Band Sequence)
ii. Skeletal deficiency 9. Cornelia de Lange (types 1-5)
a) Clinodactyly 10. Crouzon
b) Kirner’s deformity 11. Down
c) Synostosis/symphalangism (carpal/metacarpal/phalangeal) 12. Ectrodactyly-Ectodermal Dysplasia-Clefting
iii. Complex 13. Fanconi Pancytopenia
14. Fuhrmann
a) Complex syndactyly
15. Goltz
b) Synpolydactyly–central
16. Gorlin
c) Cleft hand 17. Greig Cephalopolysyndactyly
d) Apert hand 18. Hajdu-Cheney
e) Not otherwise specified 19. Hemifacial Microsomia (Goldenhar syndrome)
20. Holt-Oram
II. DEFORMATIONS 21. Lacrimoauriculodentodigital (Levy-Hollister)
A. Constriction ring sequence 22. Larsen
B. Trigger digits 23. Leri-Weill Dyschondrosteosis
24. Moebius sequence
C. Not otherwise specified
25. Multiple Synostoses
26. Nail-Patella
III. DYSPLASIAS 27. Noonan
A. Hypertrophy 28. Oculodentodigital dysplasia
1. Whole limb 29. Orofacialdigital
i. Hemihypertrophy 30. Otopalataldigital
ii. Aberrant flexor/extensor/intrinsic muscle 31. Pallister-Hall
2. Partial limb 32. Pfeiffer
i. Macrodactyly 33. Pierre Robin
ii. Aberrant intrinsic muscles of hand 34. Poland
35. Proteus
B. Tumorous conditions
36. Roberts-SC Phocomelia
1. Vascular
37 Rothmund-Thomson
i. Hemangioma 38. Rubinstein-Taybi
ii. Malformation 39. Saethre-Chotzen
iii. Others 40. Thrombocytopenia Absent Radius
2. Neurological 41. Townes-Brock
i. Neurofibromatosis 42. Trichorhinophalangeal (types 1-3)
ii. Others 43. Ulnar-Mammary
3. Connective tissue 44. VACTERLS association
i. Juvenile aponeurotic fibroma B. Others
ii. Infantile digital fibroma *The specified syndromes are those considered most relevant; however, many
iii. Others other syndromes have a limb component categorized under “B. Others”.
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Hand Surgery • Vol. 20, No. 3, 2015 • www.jhs-ap.org
to another to satisfy the “best fit” principle for condi-
tions whose aetiology remains controversial.
The intent of the new system is:
1. To provide a classification of congenital hand and
upper limb anomalies which relates to our increased un-
derstanding of the aetiology of anomalies and to relate
this understanding to a determination as to which axis of
development and differentiation is primarily involved,
and whether the problem involves the whole of the upper
limb or the hand plate primarily.
2. To allow documentation of all anomalies present-
ing in a single limb. For instance, if polydactyly, clefting
and syndactyly occur together, then this is simply clas-
sified under "cleft hand complex". However, if a limb
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presents with apparently unassociated anomalies, such as
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syndactyly and clinodactyly, these are documented sepa-
rately. Therefore, each limb may have multiple entries
within the system.
3. To cross reference anomalies with syndromes. If
an anomaly is part of a syndrome, the specific anomaly
is documented, as is the syndrome, and the two are
cross-referenced. For instance, Holt-Oram syndrome is
documented and the limb anomaly - radial longitudinal
deficiency (entire upper limb or hand plate alone) - is
also documented
Although aberrations in molecular pathways have
been identified as causative of some specific anomalies,
it is not yet possible to develop a classification which re-
lates cause and effect at the molecular level for all limb
anomalies. Furthermore, the complex interaction be-
tween the various signalling centres and the cascades of
molecular pathways which they control must be appreci-
ated. Any disruption of one signalling centre or pathway
will have consequences upon other signalling centres
and pathways, both upstream and downstream. The clas-
sification attempts to identify the primary site of error.
Recently, the IFSSH Scientific Committee for Con-
genital Conditions approved the OMT Classification as
a timely and appropriate replacement of the Swanson
Classification.16,17) That Committee recommended that
there be reviews at three year intervals and invites com-
ments, advice and questions which are based on im-
provements in knowledge and/or concerns of incorrect
placement of specific diagnoses within sub-groups.* If
the system allows appropriate adoption of any concerns
and is flexible, without compromise of its integrity, then
it will be useful. If the system does not allow flexibility
then it does not deserve to be retained. Time will tell.
*Recommendations, concerns and questions relating
to the OMT Classification should be forwarded to the
Chair of the Committee, Dr Marybeth Ezaki (Marybeth.
Ezaki@tsrh.org).
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