Congenital Hand Deformities

Dr. Muchtar, Sp.BP.

 Insidens : 1 : 626 (Conway, 1956, New York).
Others : 0,7%
The causes :
- Genetic
- Environmental
- Unknown causes.
Only 5% of congenital hand anomalies occur as part of a
recognized syndrome
VATER syndrome - Vertebral (defects), (imperforate) anus,
tracheoesophageal (fistula), radial and renal (dysplasia)
Fanconi syndrome - Pancytopenia, preaxial limb defects, renal
abnormalities, hyperpigmentation, short stature,
microcephaly, or mental retardation
TAR syndrome - Thrombocytopenia with absent radii (thumbs
are present [compare Fanconi syndrome])
Aase syndrome - Triphalangeal thumb and aplastic anemia
Nager syndrome - Preaxial aplasia associated with
mandibulofacial dysostosis (Treacher Collins syndrome)
3 Types of sequences:
Malformation sequence (intrinsic malformation
exists) eg, radial dysplasia
Deformation sequence, (no intrinsic defect an
abnormal external mechanical or structural force) eg,
constriction bands
Disruption sequence, (tissue breakdown or injury) eg,
TORCH [ie, toxoplasmosis, other infections, rubella,
cytomegalovirus infection, and herpes simplex] &
thalidomide-caused deformities)
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
1. Transverse arrest : shoulder to phalanx
2. Longitudinal arrest :
- Preaxial : hypoplasia of the thumb or
radius
- Central : typical (V shape deformity) &
atypical cleft hand (lobster
hand)
-
 Transvere arrest
Amelia
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).
Transverse arrest at forearm level
Transverse arrest at the carpal, metacarpal, and
phalangeal level
Phocomelia
 Longitudinal arrest
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
Treatment
Types I and II do not require treatment
Serial splintage, casts, and passive stretching are
useful to maintain soft tissue length
Surgical management :
1. Soft tissue release
2. Centralization of the carpus
3. Pollicization of the index finger
4. Tendon transfers and arthrodesis of the wrist
Central (longitudinal arrest)

Lobster
hand
- Postaxial : - type I : Deficient ulna,
minimal deformity
- type II : Partial absent
- Type III : Total absent
- Type IV : Humeroradial
synostosys; short
limb
Type II Failure of differentiation
Soft tissue - Syndactyly
Skeletal - Various synostoses and carpal
coalitions
Tumorous conditions - Include all vascular and
neurologic malformations
Type III - Duplication
Whole limb, mirror hand (ulnar dimelia),
polydactyly
Type IV - Overgrowth
Macrodactyly, hemihypertrophy
Type V - Undergrowth
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
 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 patien
enters school.
Treatment :
- Stretching
- Splinting or casting
- Physical therapy
- Prosthetic
- Surgery
 Two minutes with Venus, two years with
mercury.
Attributed to J. Earle Moore (1892 - 1957)
U.S. physician.

Alluding to the former use of mercury

compounds in the treatment of syphilis.