CONGENITAL ANOMALIES OF UPPER

LIMB BY EFFIOM, VICTOR

HOUSE OFFICER, BPUSURGERY DEPT. UCTH.

OUTLINE• Early Embryology• Definition of bodies • Swanson classification

Early Embryology• Limb formation begins relatively late in gestation

after the basic body plan has taken shape. The limb buds are first visible along the embryonic flanks in the middle (upper) and end(lower) of the 4th week.

• The activation of mesenchymal cells derived from lateral mesoderm (to form the limb field) appears to be the crucial step.

• Indeed the skeletal structures of the limbs are derived from this mesoderm as opposed to the somitic sclerotomes that form the rest of the skeletal system from the neck down.

EMBRYOLOGY• Onset of development of arm bud - 27

days 4th week • Well-developed arm bud - 28-30 days• Elongation of arm bud - 34-36 days

5th week • Formation of hand paddle - 34-38 days• Onset of finger separation - 38-40 days• Full separation of fingers - 50-52 days

7th week

• Limb buds have a specialized distal ectodermal region at the dorsal/ventral margin called the apical ectodermal ridge (AER), which signals to the underlying mesoderm called the Progress zone. • Limb development occurs as a result of

the continuous interactions between the ectodermal and mesodermal components of the bud.

Initiation of Limb Bud Formation• It is not currently known what is the primary signal

for initiation of limb buds, but based on model systems that can be manipulated experimentally FGF 10 is a good candidate.

• FGF 10, a member of the FGF family of growth factors is secreted locally from axial structures in the specific regions adjacent to the limb buds, apparently dictated by the HOX gene expression pattern of those segments.

• FGF 10 when implanted ectopically can induce the formation of accessory limbs. Moreover, targeted gene ablation of FGF10 results in amelia (No limbs).

APICAL ECTODERMAL RIDGE AND THE PROGRESS ZONE THEORY

• The AER is required for limb outgrowth.• Removal of AER results in a stunted limb whose

development is arrested shortly thereafter. However segments that have begun to form continue to do so reasonably normally.

• The AER produces FGF 8 at an early stage, and thus seem to take over the function from the axial structures that initiate limb bud formation.

• Later, production of several different FGFs including FGF2, 4, 9 and 17 by the AER appears to be necessary for maintenance of limb development.

• Once initiation has occurred and migration of mesoderm has begun, the limb field develops independently of any signals from the axial region.

• The AER is though to take over the function of maintaining the limb bud.

PROGRESS ZONE• The mesoderm in the PROGRESS ZONE, just

underneath the AER is thought to be the most important determinant of the actual limb structures that will form.

• These mesodermal cells determine whether for example, leg or arm structures will form.

• The formation of arm vs. leg structures appears to be set in the progress zone mesoderm very early by cues from the axial skeleton.

• Finally, there is a time dependent change in the cells of the progress zone that determines the type of structures that can be formed in the proximal-distal axis.

• Superimposed on all of these is the expression of specific transcription factors that mediate the cellular programs of differentiation, one of which is the retinoic acid receptor family of transcriptional regulators.

• A family of transcription factors, one specific for arm and a related one for leg, are turned on in the limb buds and appear to be important in the arm/leg distinctions.

• In general, most of the GFs and TFs produced are similar in the Upper and lower limb buds.

• The mesoderm in the progress zone is also thought to set the time clock for the proximal distal axis. Cells leaving this region are fixed in their developmental potential and those leaving earlier have different capabilities than those leaving later on.

Proximal Distal Axis• Limb development occurs in dimensions, each

controlled by a separate process and different growth factors.

• First is the proximal distal Axis, initiated by signals from axial structures, including the secretion of FGF, and later maintained by the AER.

• FGF gene: Produced at apical ectodermal ridge. Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs.

Anterior Posterior Axis• Second there is the anterior posterior axis that

specifies the position of the thumb versus little finger, for example

• A region located along the posterior side of the limb bud called the Zone of polarizing activity (ZPA), controls the anterior-posterior process. This zone produces SHH gene which is critical for its function.

• Sonic hedgehog gene: Produced at base of limbs in zone of polarizing activity. Involved in patterning along anterior-posterior axis. Involved in CNS development; mutation can cause holoprosencephaly.

The Anterior-Posterior Axis and the Zone of Polarizing Activity

• The ZPA is located in the posterior mesoderm.• It is responsible for establishing polarization along the A-P

axis.• SHH Gene produced by the ZPA is necessary for its function.• SHH production is sustained by FGF produced by AER.• The signals from the ZPA promote a shift from the proximal

to distal pattern of the HOX gene transcripts to an anterior-to-posterior pattern.

• It is clear that the HOX gene expression is critical for cells to understand the positional information they are receiving during development.

DORSAL VENTRAL AXIS• Third there is the dorsal/ventral axis, which

involves the ectoderm and a growth factor of the WNT family.

• Wnt-7 gene Produced at apical ectodermal ridge (thickened ectoderm at distal end of each developing limb). Necessary for proper organization along dorsal-ventral axis.

Dorsal Ventral Polarity.• Directed by the ectoderm skin from back of palm

is different from that on the back.• It is possible to detach the ectoderm from the

mesoderm in a limb bud.• The dorsal ectoderm produces the growth factor

Wnt7, a member of the Wnt family which has been shown to be necessary for dorsalization.

• Ectopic expression of Wnt7 can dorsalize a ventral surface and ablation of Wnt7a results in ventralization of the dorsal limb.

• Wnt7a signaling from the ectoderm is critical for the dorsal expression of the transcription factor Lmx1b in the distal mesenchyme.

• Lmx1b is the gene defective in human nail-patella syndrome - xterised by abnormal development of dorsal limb structures, such as nails and patella.

• Engrailed-1, another TF, is expressed in the ventral ectoderm and is required for specifying ventral limb fates by repression of the dorsalizing genes WNT7a and indirectly Lmx1b.

• Perhaps most important is the regional expression of HOX(Homeobox) gene family members (paralogues). As was true in the axial region of the embryo, HOX genes encode transcription factors that control the formation of particular structures (e.g. type of digit) in specific regions of the limb.

• Homeobox (Hox) genes: Involved in segmental organization of embryo in a craniocaudal direction. Hox mutations = appendages in wrong locations.

• Finally, the differentiation of the mesoderm into the various tissues inside the limb= bone, cartilage, muscle, CT, and blood vessels, are controlled by another series of growth factors.

• Bone Morphogenic Proteins (BMP’s) initially play a role downstream of SHH in patterning the A-P axis of the limb and then later function to induce cartilage and bone formation.

• It is fairly obvious that the development of the limb has implications not only for congenital malformation of the limbs, but also for tissue regeneration and wound healing processes

• These cells have received specific positional information that will determine the type of tissue they will become.

• This is best illustrated when an older limb bud is substituted for a younger one. Only distal structures are produced. It is too late for the proximal structures to form.

• Conversely when a young bud is grafted into an old stump, the proximal structure are duplicated.

Axis Signaling Center Molecular signal

Proximal/Distal

FGF 17

Apical Ectodermal Ridge

Limb mesenchyme

FGF2, FGF4,FGF8, FGF9

FGF10

Anterior/Posterior Zone of polarizing activity

Sonic Hedgehog, BMP’s

Dorsal-Ventral Dorsal ectodermDorsal mesenchymeVentral ectoderm

WNT7aLMX1bEngrailed-1

Summary of Embryology• Upper limb bud Develops from lateral wall of embryo . On 4th wk after fertilization . Consists of mesodermal cells covered by

ectoderm . Under guidance of three signaling centers: 1. AER (apical ectodermal ridge) - proximal-distal. 2. ZPA (zone of polarizing activity) – anterior-

posterior growth. 3. NRE (non ridge ectoderm)(wing less type) -

dorso-ventral growth.

Tissue Development in Limbs

• Mesoderm: blood vessels, muscle, bone, connective tissue and cartilage.

• Lateral plate mesoderm migrating into the region can only make certain tissue: blood vessels, connective tissue, bone, cartilage

• Somitic Myotomes make the muscle masses.• All bones in the limbs initially form as cartilage

models and ossify as endochondral bones.

Definition of Bodies• ASSH: American society for surgery of the hand• IFSSH: International federation of societies for surgery

of the hand• ISPO: International society of prosthetics and orthotics• Pre-axial: refers to the lateral/radial aspect of the

forearm• Post-axial: refers to the medial/ulnar aspect of the

forearm• Central: when there is absence of digits or

metacarpals in the central region of the hand.

Diagnosis before birthAntenatal diagnosis by ultrasound is

increasingly possible, particularly in cases of aplasia.

This will prepare the parents for the deficiency before birth.

SWANSON Classification

• The IFSSH proposed a 7 categories classification based on the proposed classification of Swanson et al in 1976.

• This classification was based on etiopathogenic pathways.

SWANSON CLASSIFICATION

• Accepted by IFSSH & ASSH.• Based on their embryologic origin &

morphological appearance.• Expanded by Knight & Kay in 2000, & Upton

in 2006.• But recently , adequacy of this classification

has been questioned.

Swanson classification

• Failure of formation of parts (Transverse or Longitudinal)

• Failure of differentiation or separation of parts• Duplication (Polydactyl)• Overgrowth• Undergrowth• Congenital constriction ring syndrome (Amniotic

band syndrome).• Generalized skeletal abnormalities & syndromes

1. Failure of formation of parts• Detected prenatally. 2 types:A. Transverse arrest Complete deficiencies

B. Longitudinal arrest: radial club hand (pre-axial arrest) ulnar club hand (post-axial arrest) cleft hand (central arrest) phocomelia (intercalary arrest) – an intervening segment of

limb is absent.

A. Congenital transverse arrest• Rare, always U/L. • Sporadic / environmental.• Level defined by skeletal absence. • Commonly at level of proximal forearm. • Defect in AER signaling• Lt > Rt • 2 groups: defect in limb formation Intrauterine amputation after limb formation• Most will not require surgery, but benefit from prosthesis

if referred early. Recently developed myoelectric prostheses enable muscle action to trigger the prosthesis.

B. Longitudinal arrest I) Phocomelia (seal limb)

• Intercalary arrest• Absence of the entire UL Is termed Amelia.• Phocomelia on the other hand is used when a functional terminal

unit is present.• Intervening segment of limb is absent (arm/forearm)• Thalidomide in 1st trimester (an anti-emetic)• Type I (complete) - hand directly attached to trunk (absence of

forearm and arm) Type II (proximal) – short forearm(with the hand attached to it)

attaches to trunk (absence of arm). Type III (distal) – short humerus attached to hand i.e. hand is

attached to the arm at the elbow (absence of forearm).• Surgery – very little role.

Pre-axial Deficiencies• Include a variety of conditions varying from minor

abnormalities of the thenar muscles to complete absence of pre-axial (radial/lateral structures.

• Most common presentation of pre-axial deficiency is radial club hand.

• The term radial club hand comprises a spectrum of disorders consisting of a

Dysplastic radial bone including a radially deviated flexed handAbsence of scaphoid and trapeziumAnd either a Hypoplastic or absent thumb• Unilateral or bilateral but rarely occurs symmetrically on both

sides.• Incidence 1:30,000 (M) and 1:100,000 (F)live births.

ii) Radial ray dysplasia (aka: Radial club hand/Pre-axial

deficiency/Longitudinal radial deficiency)

• Clinical features of radial club hand include: Radially deviated, flexed hand with pronated and shortened

forearm The radius is either partially or completely absent, being

replaced by fibrous band (anlage) The thumb is either absent or Hypoplastic Hypoplasia of other radial structures such as the scaphoid,

trapezium, 1st metacarpal, radial artery, superficial branch of the radial nerve and radial-sided musculature.

Stiffness of the elbow due to synostosis (bony fusion) Stiffness of the fingers due to stretching of the tendons

caused by radial deviation of the hand.

• Normal ulnar two digits• Median nerve subluxed towards concave side. • U/L , M>F , Rt>Lt . • Radial club hand (and pre-axial deficiencies in general) is

associated with a variety of syndromes affecting the CVS, GIT and hematological systems:

Holt-Oram syndrome: cardiac abnormalities, commonly septal defects and radial club hand

VATERR Syndrome: also referred to as VACTERL; consists of Vertebral anomalies, anal atresia, Cardiac, Esophageal, Renal and Limb anomalies.

TAR syndrome: thrombocytopenia @ birth which improves with time and radial club hand

Fanconi Anemia: Aplastic anemia which develops at around 6 years of age and radial club hand.

Classification…(O’Rahilly, Bayne & Klug)

• I –Short distal radius with no radial bowing or deviation; Mildest type; No Rx.

II – Hypoplastic radius (Rare); No Rx. III – Partial absence of radius (replaced by anlage);

Most common; centralization procedure required IV – Complete absence of radius – most severe &

second most common. Requires soft tissue release and centralization.

Radial ray dysplasia

Bayne & Klug classification of radial longitudinal deficiency

RADIAL CLUB HAND

Bayne & Klug classification of radial longitudinal deficiency

Possible Etiology and Treatment..• Maternal drug exposure, compression of the

uterus, vascular injury, ?Apical Ectodermal Ridge (AER) Defect.

• Treatment of radial club hand (and pre-axial deficiencies in general) is dependent on the Px. Age, severity of deformity and extent of functional deficit.

• Conservative Mgt. Vs. Surgical mgt.• Conservative mgt. which include Splints, casts and passive

stretching techniques which helps to reduce stiffness and maintain soft tissue length.

• Surgical Mgt. which includes soft tissue release, centralization and radialization procedures, thumb reconstruction via pollicization and tendon transfers.

iii) Ulnar ray dysplasia (aka: Ulnar club hand /Postaxial deficiency)

• Rarest of longitudinal ray deficiency.• Compared to radial club hand, has a larger spectrum of

abnormalities ranging from minimal hypoplasia of the ulnar digits to total absence of the ulna.

• Short, bowed radius with a Hypoplastic or absent ulna.• AD pattern of inheritance.• Association with syndromes – uncommon• Disruption of ZPA signaling.• Elbow severely affected (with a relatively stable wrist).• M>F , Lt>Rt , U/L>B/L.

Ulnar club hand differs from radial club hand in a number of key ways..

Ulnar Club hand Radial Club Hand

• Elbow joint is unstable while the wrist is stable

• Ulnar is typically only partially absent

• Wrist is unstable while elbow is either stiff or stable.

• Radius is usually totally absent.

• Syndromic associations are rare, but if they do occur involve the MSS

• Syndromic associations are common and always involve either the cardiac, GIT or hematological systems.

Classification

• The most commonly used classification for ulnar club hand is that which has been proposed by Bayne.

Type 1: hypoplasia of the ulna with minimal deformity.

Type 2: partial absence of the ulnarType 3: total absence of ulnar with anlage and a

normal radiohumoral joint.Type 4: radius is fused to the humerus with no elbow

joint (radiohumoral synostosis)

Bayne classification

Paley & Herzenberg classification

• I – Ulnar hypoplasia

• II – Partial ulnar aplasia

• III- Total ulnar aplasia

• IV – Radiohumeral synostosis

• I – Ulnar hypoplasia with intact distal epiphysis

• II – Partial ulnar aplasia (distal 1/3rd )• III –Partial ulnar aplasia (distal 2/3rd )

• IV – Total ulnar aplasia

• V – Radiohumeral synostosis

Bayne & Klug classification of ulnar longitudinal ray deficiency

Treatment of ulnar Club hand.

• Involves hand therapy and splinting to improve the range of motion.

• Surgical intervention where appropriate• Surgery usually involves release of the fibrous

anlage and realignment of the carpus and forearm.

iv) Central ray deficiency /cleft hand• Involves an absence of digits or metacarpals

of the central portion of the hand.• Most common longitudinal deficiency.• Defect in AER signaling.• B/L (frequently).• Divided into typical and atypical types.• Structures proximal to wrist – normal.• Little finger – always present • Associated syndactyly & narrow web space.

CLEFT HAND• Complex syndactyly (thumb & index) – in

severe case. • Hand – “functionally good but aesthetically a

disaster’’.• Association with cleft feet in 1/3rd cases

(absence of the 3rd toe of the foot) (SHSF)• Other Syndromic associations: EEC

syndrome(ectrodactyly, ectodermal dysplasia, cleft lip/palate)

Typical cleft hand Atypical cleft hand

• Deep V shaped central defect• Bilateral• Inherited (AD) • Cleft feet associated (3rd toe of foot)• Partial or complete absence of the

middle finger (central ray) in the hand.

• Thumb involved• Associated cleft lip/palate• No chest wall involvement• Little finger – only digit • No finger nubbins (buds)

• Shallow U shaped defect• Unilateral • Sporadic• Not associated with cleft feet• Rays of central 3 digits(index, long

and ring fingers)• Rarely involves thumb• No associated cleft lip/palate• Seen in Poland syndrome• Thumb - only digit• Finger nubbins may occur• Now recognized as a form of

symbracydactyly.

Typical cleft hand with central deep V shaped cleft

Manske’s classification of cleft hand• Type I – Normal 1st web• Type II A – mildly narrowed web B – severely narrowed • Type III – Syndactylised web• Type IV – Merged web• Type V – Absent web A – Partial suppression of radial ray B – Complete suppression of radial ray

Treatment• Where possible is via surgical intervention to

improve cosmesis and function.

Failure of Differentiation• Soft tissue1. Syndactyly2. Camptodactyly3. Trigger thumb4. Clasped thumb

• Skeletal1. Clinodactyly2. Symphalangism3. Synostosis4. Arthrogryposis5. Windblown hand

SYNDACTYLY• The term “SYN” is derived from Greek and

means “together” while “dactyly” is also derived from the Greek term “dactylos” which means “digits”.

• Both of them used together describes a condition where the fingers of the hand are joined together.

• Syndactyly is thought to be caused by a failure of programmed cell death (apoptosis) in the interdigital tissue.

• When all the different varieties of Syndactyly are counted together, it becomes the most common congenital deformity of the hand.

• Incidence of 1 in 1000-2000 live births.• Males > female• 30% Bilateral• 20% of cases have a positive family history.• Thought to be associated with at least 28

other syndromes including Apert’s and Poland’s syndrome.

• 3rd web > 4th web > 2nd web• Foot may also be affected, with the commonest form being an

incomplete second web space syndactyly.• Syndactyly is classified as follows:1. Complete: digits are fused together up to the level of the tips of

the fingers2. Incomplete: fusion of the digits does not reach up to the level

of the fingers.3. Simple: connection between the digits only involves soft tissue.4. Complex: in addition to soft tissue connections, there are also

bony connections between the fingers.5. Acrosyndactyly: there is distal soft tissue and bony connections

(i.e. complex Syndactyly) but proximally the web space is present to a degree, resulting in small spaces referred to as fenestrations.

• Complicated Syndactyly More than only distal bony fusion Abnormal bone structure inside

(fusion ,missing bone, abnormal joints, rudimentary bones ,cross bones)

Seen in ▪Apert syndrome, ▪Central synpolydactyly ▪Typical cleft hand

Complex & complicated Syndactyly

Treatment• Involves surgical correction of deformity.• Goals of surgery include:a. Separation of the digitsb. Creation of a web spacec. Skin coveraged. Immobilization and avoidance of scars.The timing of surgery depends on the deformity.• Surgery to release fingers of unequal length, such

as the ring and the little finger, thumb and index finger, maybe carried out as early as 6 months.

• Complex and Acrosyndactyly are also often released early as the bone to bone connections between the digits may adversely affect growth.

• Most other less severe deformities can be deferred to age 12-36 months.

A number of surgical techniques exist but most share the following principles

• If several digits are involved, the border digits are released first.

• If a digit is joined on both sides a single stage release procedure to separate that finger should be avoided as this may adversely impact finger vascularity.

• Zigzag incisions should be used and straight line incisions avoided along the borders of digits to reduce the likelihood of scar contracture which may lead to digital deformity.

• A proximally based dorsal flap is usually used to reconstruct the web space as skin grafts in this area may cause a partial recurrence of Syndactyly

• Defects along the borders of the digits are closed via volar and dorsal interdigitating flaps.

• Any other resultant defects are closed via FTSG

• Skeletal abnormalities need to be corrected.• Reconstruction of a normal nail fold.

CAMPTODACTYLY (Arched Finger)

• Congenital flexion deformity of the PIPJ.• Painless, progressive flexion Contracture of

PIPJ( antero-posteriorly).• Most commonly involves the little finger (70%)

although other fingers could be involved.• Presents at two distinct time periods:Infancy – 1-4 yrs. with an equal sex incidenceAdolescence – 10-14 yrs. Occurs more

commonly in girls.

• 3 types: type I . newborn (M=F) type II. adolescent females type III. Multiple digits/with syndromes

• Almost every structure in the region of PIPJ has been implicated in the pathogenesis of camptodactyly although the most common causes seem to be:

Either an abnormal lumbrical insertion An abnormal flexor digitorum

superficialis (FDS) insertion. Or simply Due to imbalance in flexors &

extensors

Treatment of Camptodactyly.• Initial Rx. Is conservative – splinting and

stretching.• If conservative mgt. fails or there is a rapidly

progressing deformity of the finger, then surgical intervention is considered.

• Surgery can be deceptively complex and may involve

1. Release of any anomalous lumbricals or lengthening of a tight FDS

2. Agulation osteotomy or arthrodesis of the joint.

Congenital Trigger Thumb• Presents in infants with similar clinical features to that

in adults• Includes a thumb that clicks, catches or locks as the

Interphalangeal joint moves from a flexed to an extended position.

• IP joint is usually held in a flexed position by the child. • 25% present at birth; 25% are B/L• 30% resolve spontaneously by 1 yr. of age• Nodule known as “Notta’s node” is usually palpable

over the flexor aspect of the MCP joint of thumb proximal to A1 pulley.

Congenital trigger thumb• Snapping/popping as the nodule passes beneath

A1 pulley.• Stenosing tenosynovitis of FPL tendon at A1

pulley • Compensatory hyperextension at MCPJ.

Treatment of Trigger Thumb• Initially stretching exercises + splintage are

used.• If above fails, surgical release of the A1 pulley

is carried – provides excellent result with few complications.

Congenital clasped thumb• Deficient thumb extensor mechanism.• Mild clasped (type I) – deficiency of EPB . Extension lag at MCPJ.• Severe clasped (type II) – deficiency of EPB &

EPL - Extension lag at both MCPJ & IPJ.• Type III – clasped associated with

arthrogryposis

Treatment of Clasped Thumb• Splintage in ext. for up to 6 months

• If conservative Rx. Fails or there is significant adduction contraction, release of the first web space may be indicated.

• Tendon transfers, tendon grafts and arthrodesis may be indicated in more severe cases.

*KIRNER’S DEFORMITY*• Progressive Palmar radial curvature of the

distal phalanx of little finger.(deviation in 2 planes)

• Distortion & widening of epiphyseal plate along with curvature of the diaphysis of the distal phalanx.

SKELETAL:1) Clinodactyly (Inclined Finger)

• Xterised by curvature of a digit in a radio ulnar plane (>100) distal to MCPJ.

• Most common presentation is inward (radial) deviation of the little finger @ DIP. (Middle phalanx of little finger - last bone to ossify)

• Proximal phalanx of thumb – 2nd most common• The pathoanatomical basis of clinodactyly rests

with an abnormally shaped middle phalanx known as a DELTA phalanx.

• Due to an abnormality of its epiphysis, the delta phalanx assumes an abnormal Trapezoidal shape, which in turn gives rise to curving of the digit.

Treatment of Clinodactyly

• Most patients with this condition do not have any functional deficits and hence surgery is not indicated purely for aesthetic purposes.

• Wedge osteotomy techniques can be employed In cases of severe angulation and interference with function.

2) SYMPHALANGISM (IPJ Ankylosis)

• Harvey Cushing coined the term• To describe the congenital stiffness of the PIPJs.

(most commonly)• Has now been extended to include stiffness of

the DIPJs as well.• Caused by failure of differentiation of the

Interphalangeal joint – there is absence of the joint capsule.

• Occurs in assoc. with a number of other conditions including, Apert’s syndrome, Poland’s Syndrome and Radial club hand.

Management• Usually conservatively as the hand functions

quite well.

• Mainstay of treatment involves hand therapy and dynamic splintage.

• Arthroplasty and Arthrodesis may be considered following skeletal maturity to obtain a more functional position.

3) Synostosis• This involves the fusion of 2 bones• Either in a partial manner permitting some

degree of movt. Or in a complete manner permitting absolutely no movement at the joint.

• Can occur at any site along the UL where there are two bones adjacent to one another.

• Can occur between phalanges (complex Syndactyly), metacarpal bones, carpal bones and the radius and ulnar.

Mainstay of treatment is surgery and involves rotational osteotomies to improve the position and hence function of the hand.

4) Arthrogryposis• Non progressive multiple congenital joint contractures• An abnormality of the nerves in the motor unit is thought

to be the cause of this condition.• Elbow – most commonly with lack of flexion.• Amyoplasia – classic type ▪symmetric limbs ▪shoulder- adducted , internally rotated ▪elbow –extension ▪forearm- pronation ▪wrist – flexion ▪hand – club-like, ulnar deviation ▪thumb – flexed, adducted ▪fingers - flexed

Treatment is usually confined to dynamic and static splinting with surgery being indicated to correct specific functional problems.

WINDBLOWN HAND (in Freeman Sheldon syndrome)

• Fingers are deviated in an ulnar direction• Severe hyper flexion of fingers at MCPJ with ulnar

deviation .• Due to metacarpal bone shortening.• “Whistling face” syndrome • Usually B/L• Progressively worse as the child matures• Treatment is surgical and involves reconstruction of

the deformed hand.

WINDBLOWN HAND

WINDBLOWN HAND

DUPLICATION• In duplication, the entire limb or part of the limb may be

duplicated. Polydactyly refers to the presence of more than 5 fingers in the hand. It is the most common congenital anomaly in Upper extremity.

• It can occur on its own or as a condition associated with a syndrome.

• Classed into: Ulnar polydactyly (Post-axial) Central polydactyly Radial polydactyly (Pre-axial) Ulnar dimelia

ULNAR POLYDACTYLY• Post axial polydactyly; Africans; syndromic• 8x as common as polydactyly of the other fingers• Stelling has divided ulnar polydactyly (duplication of

the little finger) into 3 types:1. Type 1: a mass of soft tissue lacking a skeletal

structure attached to the post axial region.2. Type 2: an extra digit with all the normal components

articulating with a normal or bifid Metacarpal or phalanx.

3. Type 3; an extra digit articulating with an extra metacarpal.

Treatment involves removal of the extra digit in 2 and 3 and removal of skin tag in 1.

ULNAR POLYDACTYLY

CENTRAL POLYDACTYLY

• Duplication of the index, middle and ring fingers• Seen in association with varying degrees of

Syndactyly, and in this case it is referred to as POLYSYNDACTYLY.

• Surgical intervention usually involves release of the Syndactyly, removal of the extra digit and augmentation of the retained digit via reconstruction.

• Complex operative procedure; requires more than one operation.

CENTRAL POLYDACTYLY

RADIAL POLYDACTYLY• Generally thumb duplication • Usually U/L; Asians; isolated• Wassell classified it into 7 typesi. Bifid distal Phalanxii. Duplicated distal phalanxiii. Bifid proximal phalanx with duplicated distal phalanxiv. Duplicated proximal and distal phalanx (Most

Common; 44% of cases)v. Bifid metacarpal with duplication of the proximal and

distal phalanx.vi. Duplicated metacarpal, proximal and distal phalanxvii. Triphalangeal thumb

RADIAL POLYDACTYLY

TYPES OF RADIAL POLYDACTYLY

ULNAR DIMELIA• Rare condition• Duplication of the ulna, absence of the radius and

7 or 8 fingers; A central digit with 3 digits (long, ring, little) on either side with no thumb.

• Sometimes referred to as Mirror hand.• Due to transplantation/replication of ZPA• There is usually stiffness of the elbow joint with

reduced forearm rotation• Treatment involves excision of the Olecranon (to

improve elbow stiffness) and excess fingers.

OVERGROWTH• Macrodactyly: Only deformity in this group• Enlargement of all structures within a digit• True macrodactyly needs to be differentiated

from other causes of enlarged digits such as vascular malformations, osteoid osteomas, fibrous dysplasia and lipomatoses.

• Most common presentation is macrodactyly associated with nerve-orientated lipofibromatosis.

• In this condition, there is adipose tissue and fibroblast deposition in the cutaneous nerve supplying the digit (leading to its enlargement) and hence it is alternatively described as nerve territory orientated macrodactyly.

• Most commonly occurs in the median nerve distribution supplying the index finger and is usually U/L.

Classification• Flatt’s classification - Type I – lipofibromatosis Type II- neurofibromatosis Type III- hyperostosis Type IV- Gigantism and hemihypertrophy

• Majorly into 2 types1. Static Macrodactyly: enlarged digit grows in

proportion with the rest of the child’s body2. Progressive Macrodactyly: the enlarged digit grows

progressively out of proportion with the rest of the child’s body

UNDERGROWTH

•Brachydactyly•Thumb hypoplasia•Madelung deformity

Brachydactyly • Fingers that are shorter than normal

• Occurs in association with symbrachydactyly where the fingers are replaced by small nubbins

• Treated either via distraction, free phalangeal transfers from the toes or free microvascular joint or bone transfer.

Thumb Hypoplasia• The thumb is the digit that is most commonly

hypoplastic.• Blauth classified thumb hypoplasia into 5

typesType 1: small thumb with normal

components. This deformity does not affect function adversely and hence in the vast majority of cases does not require surgical correction.

Type 2: the thenar muscles are hypoplastic. The first web space is narrowed due to adduction contracture and the MCP joint is unstable due to laxity of the ulnar collateral ligament. The skeletal structure of the thumb is however normal. Treated via release of the 1st web space and an opponensplasty (an operation where a muscle is transferred to restore thumb opposition)

Type 3: there is hypoplasia of the skeletal structure + intrinsic muscles with abnormalities of the extrinsic tendons. A - stable CMC joint, B- unstable CMC joint. It is treated by amputation and pollicization of the index finger (index finger is removed and used to create thumb) or by soft tissue and skeletal re-construction.

Type 4: A small thumb is attached to the hand via a skin bridge; floating thumb (pouce Flottant)

Type 5: Aplasia. Both types 4 and 5 are treated via pollicization of the index finger.

Madelung’s deformity

• Radial & palmar angulation of distal radius• Ulnar & palmar part of distal radial physis –

growth disturbance point.

Made-lung deformity A growth disturbance

in the volar-ulnar distal radial physis

volar and ulnar tilted distal radial articular surface,

volar translation of the hand and wrist,

a dorsally prominent distal ulna.

Madelung deformity

Made-lung deformity • Adolescent females • Pain, Decreased range of motion, and

deformity. • Genetic etiology and is associated with

mesomelic dwarfism and a mutation on the X chromosome.

• Surgery involves addressing the deforming bony and ligamentous lesions, correcting the abnormal position of the radial articular surface, and equalizing the longitudinal levels of the distal radius and ulna

Constriction Ring/Band Syndrome (Streeter’s Dysplasia)

• Involves the presence of tight bands around any part of a limb or digit.

• May encircle entire circumference or partially encircle.

• 1:15000 live births.• Two hypotheses to its etiology1. First one proposes that it is caused by extrinsic

amniotic bands encircling the limb in utero2. Proposes that it is caused by an intrinsic defect

in the germ cell layer.

Constriction Ring Syndrome

• Categorized by Paterson into 4 main groupsA. Type 1: simple constriction ring involving only a

groove in the skin (partial/circumferential)B. Type 2: Constriction ring with distal

lymphedemaC. Type 3: constriction ring associated with fusion

of digits distally (known as Acrosyndactyly – fenestrated Syndactyly)

D. Type 4: intrauterine amputation.

RING CONSTRICTIONS

Treatment of Constriction Ring

• Typically involves excision of the ring via multiple Z-plasty or W-plasty.

• If Acrosyndactyly is present, it should be released within the 1st year of life to enable the digits to grow normally.

Generalized skeletal abnormalities• Most common – multiple exostoses.• Others – Poland syndrome(symbrachydactyly) Apert syndrome(complex syndactyly) Haas syndrome Freeman Sheldon syndrome (wind blown hand) Mohr Wriedt syndrome (radial clinodactyly of

index finger) Pierre – Robin syndrome (clasped thumb).

Apert's syndrome• Craniofacial anomalies

with mitten hands.• Apert syndrome is

a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet

• It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible

• Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.

Apert’s syndrome

Apert syndrome (acrocephalosyndactyly)• Characterized by 1. Craniosynostosis . 2. Acrosyndactyly. 3. Symphalangism (2nd , 3rd , 4th finger) 4. Radial clinodactyly of thumb. 5. Simple Syndactyly of 5th finger (4th web)• Upton classification –

Type I – Spade / obstetrician hand (thumb & little fingers are free) Type II – Mitten / spoon hand (only thumb is free) Type III – Rosebud / hoof hand ( all fused)

B. Haas syndrome• Presence of 6 metacarpals is characteristic• >5 digits • All having 3 phalanges

Modified classification of congenital anomalies of hand & upper limb

I. MalformationA.Failure in axis formation & differentiation – entire upper limb B.Failure in axis formation & differentiation – hand plate C.Failure in hand plate formation & differentiation – unspecified axis

II. Deformations – 1. Constriction ring syndrome

III. Dysplasias 1.Macrodactyly 2.Limb hypertrophy 3.Tumorous conditions

A. Failure in axis formation & differentiation – entire upper limb

Proximo–distal axis1.Symbrachydactyly2.Transverse deficiency3.Intersegmental deficiency

Radio – ulnar axis Dorsoventral axis

1.Radial longitudinal deficiency2.Ulnar longitudinal deficiency3.Ulnar dimelia4.Radio - ulnar synostosis5.Humero - radial synostosis

1.Nail patella syndrome

Symbrachydactyly

• Type 1- triphalangeal type• Type 2 – diphalangeal type• Type 3 - monophalangeal type• Type 4 – aphalangeal type• Type 5 – ametacarpia type• Type 6 – acarpia type• Type 7 – forearm amputation type

Types of symbrachydactyly

Short finger Atypical Cleft hand monodactyl Peromely

B. Failure in axis formation & differentiation – hand plate

1.Radial polydactyly2.Ulnar polydactyly3.Triphalangeal thumb

1.Dorsal dimelia (palmar nail)2.hypoplastic/aplastic nail

Radio-ulnar(AP) axis Dorsal ventral axis

Dorsal Dimelia of little finger• Failure in axis formation & differentiation in

hand plate• Involves dorso-ventral axis.• Non ridge ectoderm – signaling centre.• Palmar nail.

Triphalangeal thumb• AD• Extra phalanx of variable size, variable

shape(triangular/trapezoid/rectangular) normal appearing thumb • Fully developed extra phalanx lying in the finger plane - considered as five fingered hand - absent thumb with index polydactyly

1.Syndactyly2.Campto-

dactyly3.Trigger

digits

1.Brachydactyly 2.Clinodactyly3.Kirner’s

deformity4.Metacarpal &

carpal synostoses

1.Cleft hand2.Syn- polydactyly3.Apert hand

Soft tissue Skeletal Complex

C. Failure in hand plate formation & differentiation –unspecified axis

Brachydactyly • Bell’s classification- A. Brachymesophalangy B. Apical dystrophy C. Drinkwater type D. Brachymegalodactyly (stub thumb) E. Brachymetacarpia• Mohr – Wriedt syndrome – Radial deviation (clinodactyly) of index fingerdue to brachydactyly(middle phalanx of index)

Bell’s classification

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