2. Objectives
A. General introduction to congenital limb-
deficiency
B. Some example of limb deficiency terminology
based on Latin/Greek origin
C. Causes of congenital deficiency
D. ISPO- Classification of Congenital Limb
Deficiency and its purpose
a) Constraints for ISPO classification
b) Type of congenital deficiency under ISPO
classification
3. (A) Congenital Limb deficiency
• A congenital anomaly is a condition of congenital disorder/disease
existing at or before birth regardless of cause. It involve defects in a
developing fetus
• Dysmelia is the congenital disorder of limb resulting from
disturbance in the embryonic development
– Types:
• Aplasia (missing) limbs:
– Amelia
– Oligodactyly
– Congenital limb loss
• Malformation of limbs
– shortening (rhizomelia or mesomelia),
– Ectrodactyly,
– Phocomelia,
– Meromelia,
– Syndactyly,
– Brachydactyly,
– Club foot
4. (B) Some example of limb deficiency
terminology based on Latin/Greek origin
• Oligodactyly (from the Ancient
Greek oligos meaning "few"
and
δάκτυλος daktylos meaning
"finger") is the presence of
fewer than five fingers or toes
on a hand or foot
• Oligodactyly is therefore the
opposite of polydactyly
• Oligodactyly is sometimes a
sign or symptom of several
syndromes including Poland
syndrome and Weyer Ulnar
Ray Syndrome
5. (C) Causes of congenital deficiency
• Inheritance of abnormal genes,
e.g. polydactyly, ectrodactyly or brachydactyly,
symptoms of deformed limbs then often occur in
combination with other symptoms (syndromes)
• External causes during pregnancy (thus not inherited),
e.g. via amniotic band syndrome
• Teratogenic drugs (e.g. thalidomide, which
causes phocomelia) or environmental chemicals
• Ionizing radiation (nuclear
weapons, radioiodine, radiation therapy)
• Infections
• Metabolic imbalance
6. (D) ISPO- Classification of Congenital
Limb Deficiency
• Is a nomenclature/classification of congenital
limb deficiency published by Dr H.J. B. Day in
Prosthetics and Orthotics International journal
in 1991
• Congenital (Greek word): before birth
• Deficiency: failure of formation
7. Purpose of “Classification of
deficiencies”
• Purpose:
– To define variables/ characteristics in detail that
are affecting the outcome of intervention
– To aid clinician to choose the best treatment
method
– Provide information for useful counseling of the
patient and parent about its prognosis
– To define the patient population so that to serve
for future studies
8. (a) Constraints for ISPO classification
• The congenital deficiency present at birth are
described using three constraints:
– It is restricted to Skelton deficiency only, i.e. majority
of such cases are due to failure of formation
– It described on anatomical and radiological basis. No
attempt is made to classify in term of etiology,
embryology etc
– The classically derived term (of Greek/Latin origin)
such as Hemi-melia, Peromelia, meromelia etc are
avoided
9. (b) Type of congenital deficiency under
ISPO classification
(i) Transverse deficiency
• Congenitally amputated
residual limb so that the
limb has developed
normally to a particular
level, beyond which no
skeletal element are
present
• There may be digital buds at
the amputated/ deficient
level
(ii) Longitudinal deficiency
• All other : A reduction,
absence of elements with in
the long axis of limb
10. (i) Transverse Nomenclature
• Naming the segment at which the limb terminates
• Then describing the level with in that segment beyond
which no Skelton element exist
• Note: This nomenclature should be done with caution
in case of disarticulations level/ or when there is full
limb segment exist. So that in such cases, the next non-
existing Skelton segment is used in the nomenclature.
For example:
– Transverse deficiency of forearm total: meant congenital
absent of limb form the forearm origin and is equivalent to
elbow disarticulation.
11. (ii) Longitudinal nomenclature
• There is reduction or absence of element with in the long axis of
limb
• There may be normal Skelton element distal to the affected bones.
• Procedure of naming :
– Name the bone affected in proximal –distal sequence by using by
using name as Noun. Bones not named is considered as presence
– State where each affected bone is total/ Partially
– In case of partial deficiency , the fraction & position of bone may be
stated
– The number of digit should be stated in relation to metacarpal meta
tarsal and phalanges, the number starts from pre-axial (along the long
axis of the limb, the proximal lost bone should be named first),
Radial (in upper limb), Tibial side (in lower limb)
– The term ray may be used to refer to a meta-carpal, meta-tarsal &
corresponding phalanges