Embryology of the Upper limb and congenital hand anomalies Flashcards
Describe upper extremity embryogenesis
- Wk 4-8 - at end of embryogensis, structures are present (including cartilage, not bone) and will then differentiate/mature
- at birth - carpal bones and epiphyseal plates not yet ossified/not visible on xray
3 axes of development
- derived from MESODERM (lateral plate & somatic)
- PROXIMODISTAL = AER and PZ
- Apical Ectodermal Ridge controls the apoptosis interdigital and guides differentiation of cells in Progress Zone defines digits
- ANTEROPOSTERIOR = ZPA
- Zone of Polarizing Activity defines A-P axis by amount of SHH signalling defines thumb on radial side
- DORSOVENTRAL = WNT
- Wnt singnalling in dorsal ectoderm defines nail pulp from plate
OSSIFICATION
- clavicle first to ossify
- Radius, ulna, DP, MC, PP, MP
- Carpal bones post natal - C, H, Tq, L, STT, Pisiform
How do you classify and list congenital upper extremity deformities
IFSSH
- FAILURE OF FORMATION
- transverse arrest
- longitudinal arrest
- Ulnar longitudinal deficiency
- Radial longitudinal deficiency
- Central ray deficiency (cleft hand
- longitudinal Intercalary deficiency (phocomelia)
- FAILURE OF DIFFERENTIATION
- Syndactyly
- Apert
- Acrosyndactyly
- symphalangism
- clinodactyly
- camptodactyly
- arthrogriposis
- flexed thumb
- trigger
- clasped
- Syndactyly
- DUPLICATION
- Polydactyly
- preaxial (thumb)
- postaxial (little)
- axial (central)
- Ulnar dimelia (mirror hand)
- Triphalangism
- Polydactyly
- UNDERGROWTH
- symbrachydactyly
- hypoplastic/adactyly
- OVERGROWTH
- macrodactyly
- limb
- CONGENITAL BAND SYNDROME
- GENERALIZED SKELETAL ABNORMALITIES
What is the incidence of congenital hand anomalies
1/600
and 10% of these have functional sequelae
What is the etiology of congenital hand anomalies
- Unknown (60%)
- Genetics (30%)
- unknown mutations
- Environment (10%)
- Warfarin => limb hypoplasia
- Dilantin => nail dysplasia, DP hypoplasia
- Alcohol => nail dysplasia, DP hypoplasia
- Thalidomide => phocomelia
- Varicella =>longitudinal deficiency
At what age is power grip, tip pinch and hand preference established?
- power grip: 7mths
- tip pinch: 9mths
- hand preference 3-4yo
What are the goals of surgical planning for correction of congenital hand anomaly
- precise pinch
- palmar pinch most used
- lateral pinch also important
- tip pinch precise but used less often
- power grasp
Failure of formation: Transverse arrest
What is the etiology, clinical presentation, management
- Etiology
- sporadic mutation
- RFs: smoking, cocaine, misoprostol, CVS
- Clinical presentation
- usually, LEFT, UNILATERAL
- level of amputation proximal forearm most common, then midcarpal/metacarpal
- named according to last present structure
- contralateral and proximal structures hypoplastic
- may have finger nubbis/nails
- Management
- prosthesis is mainstay
- may remove nubbins or not (usefu lfor sensory feedback)
- revision of stump for prosthesis fitting
Failure of formation: longitudinal deficiency, Radial
What is the etiology, clinical presentation, classification
- Etiology:
- injury to AER
- Clinical presentation
- RIGHT, MALE
- 50% bilateral
- 50% associated with congenital syndrome
- On exam -
- wrist: unstable, radially deviated, pronation
- ulna - bowed, shortened
- radial structures absent (including muscle, nerve, vessel and upper arm/BP too
- Classification: Baynes & Klug
- Type 1 - <2mm hypoplastic radius
- short epiphysis
- no wrist angulation
- Type 2: >2mm hypoplastic radius
- short epiphysis and proximal hypoplasia
- wrist radially deviated, supported
- ulna bowed
- Type 3: partial absence of radius
- wrist radially deviated, unsupported
- ulna thick, bowed, shortened+ anlage (fusion of tendon/fibrous tissue 2’ to absnt muscle)
-
Type 4: Absent radius
- most commone type
- wrist: unstable, radial, pronated
- ulna short bowed, anlage
- elbow may be unstable
- Type 1 - <2mm hypoplastic radius
What syndromes are associated with radial longitudinal deficency and what work-up is necessary if RLD is identified?
- Holt-Oram
- ASD/VSD
- VACTERL
- Verterbral, Anam, Choanal/Cardiac, TE fistula, Renal, Limb
- TAR
- thrombocytopenia + absent radius
- Fanconi
- pancytopenia, ASD, poly/clino/syndactyly
- Nager
- craniosynostosis
WORK-UP
- blood panel (low plat, pancytopenia)
- cardiac echo (HO, VACTERL, Fanconi)
- renal U/S (VACTERL)
- xrays
How what are treatment options for RLD?
Non-operative
- start at birth
- splinting, serial casting, PT/hand therapy
- improve position of wrist, maintain full PROM
Operative
Indicated: no wrist stability, extensor excursion
Contraindicated: elbow stiff (want wrist radial to feed)
- Wrist/Hand
- centralization: realign 3rd MC with distal ulna and fixate (steinmann/kwire)
- radialization: realign 2nd MC with distal ulna
- ulnocarpal arthrodesis
- closing wedge ulna osteotomy
- Soft tissue relese/rebalance
- tendon trasner FCU to ECU
- release anlage to achieve ROM (watch median nerve
Failure of formation: longitudinal deficiency, Ulnar
What is the etiology, clinical presentation, classification
- Etiology
- ZPA abnormal
- Clinical presentation
- elbow unstable, fixed in flexion. fused w radius
- wrist stable
- Many associated HAND abnormalities: thumb hypoplasia, syndactyly ulnar digit, absense radial digit
- wrist deviated ulnar
- 25% bilateral
- 50% associated with MSK defect or 3 syndromes (CdL, PFFD, Schinzel)
- Classification (Baynes)
- Type 1 - ulna hypoplastic
- distal + proximal epiphysis present
-
Type 2 - partial ulna absence
- most common
- presence distal 1/3 only
- Type 3 - total ulna absence
- Type 4 - radiohumeral synostosis (fusion)
- Type 1 - ulna hypoplastic
What 3 syndromes are most commonly associated with ULD and what MSK abnormalities are associated w ULD
- Cornelia de Lange
- excess facial hair, short, DD, seizure
- PFFD
- proximal femoral focal deficiency
- Schinzel
- renal abnormalitiy, DD
- MSK abnormalities
- scoliosis, spia bifida
- fibula/femur deficiency
- contralat phocomelia
What are treatment options for ULD
Non-operative
- splinting, serial casting to maintian PROM
Operative
- Correct ass. HAND abnormalities
- thumb recon: pollicization, web deepen, MC rotational osteotomy
- syndactyly release
- wrist/forearm/elbow
- release anlage
- rerotational radius osteotomy/humerus
What are difference between ULD/RLD
- Incidence: RLD 10x more common
- Associated syndrome/abnormalities
- RLD - cardiac/renal/hematopoetic
- ULD - MSK, DD
- Hand abnormalities
- RLD - thumb
- ULD - syndactyly ulnar digit, absent radial 2-3digits
- Elbow/wrist
- RLD - elbow stable, wrist unstable
- ULD - wrist stable, elbow unstable
*
Failure of formation: longitudinal deficiency, Central
How do you distinguish between the 2 types of central deficiency
- cleft hand
- symbrachydactyly
- Cleft hand = D5 intact
- V-shaped cleft
- variable deficiency of D3
- hypoplasia of radial digits
- syndactyly 1st web
- AR/sporadic genetics
- MALE
- BILATERAL
- may have 1-4 limbs affected
- no finger nubbins
- carpal bones normal
- Associated with: EED (ectrodermal-ectrodactyly Dysplasia w clefting), eye, nail, teeth abnormalities
- Symbrachydactyly (thumbs up!)
- U-shaped cleft
- involves D2,3,4, leaving only D1/D5
- hypoplasia/absence of ulnar digits
- finger nubbins present
- sporadic - no inheritance
- UNILATERAL
- only hands affected, normal legs/feet
- carpal bones hypoplastic
- Associated with POLANDS syndrome
- Common to both
- transverse lying MC bones
- triphalangeal thumb, Longitudinal Bracketed epiphyses (clinodactyly)
- PIP flexion contracture (camptodactyly
What are goals of treatment, treatment options and timing for both types of central deficiencies?
- CLEFT HAND
- Goal: pinch, grasp
- Timing: early syndactyly release. 1-2yo for correction of cleft
- Excise transverse MC
- Syndactylyl release
- Close Cleft: Snow-Littler technique: volar skin flap from cleft for 1st web adduction contracture, DTML recon with A1 pulley radial/ulnar flaps, transposition D2 to D3 MC base
- Thumb hypoplasia/absence recon
- SYMBRACHYDACTYLY
- Goal: grasp
- Timing: 4-5yo to consider 2nd toe trasnfer to D5 position
- Excise finger nubbins
- nonvascularized PP bone transfer for length
- digit trasnposition to better position
- free 2nd toe trasnfer to ulnar side of hand for grasp
Failure of Formation; longitudinal intercalary deficiency; Phocomelia
What is the definition, etiology, clinical presentation, classification and treatment options
- Def: absence of segment between shoulde and hand - hand is normal in develop/presence of structures
- Etiology
- Ass RF: thalidomide, smoking, anticoagulants, anticonvulsants
- Associated with syndromes:
- CLP, Holt Oram, TAR, Adontia-adactylyl
- Classification - Frantz (based on absent structure)
- Complete - absence of arm+forearm
- Proximal - absence of humerus
- Distal - absence of radius/ulna
- Clinical presentation
- BILATERAL commonly
- presence of digital bones distinguishes from trasnverse arrest
- Treatment options
- aimed at positioned hand better in space
- osteotomies (rotational, lenthening)
*
How do you distinguish symbrachydactyly from transverse arrest?
- Nail plate (absent in arrest, present in Symbrachy)
- U-cleft in SB, non cleft in Arrest
- All digits are arrested at same level in Arrest (including thumb) but SB has different length digits
What are causes of CTS in ediatric population?
- persistent median artery
- anomalous muscle FDS
- MPS (hurler syndrome)
Failure of Differentiation: Arthrogryposis multiplex congenita
What is the definition, clinical presentation, classification, treatment options
- Definition
- joint contracture and paralysis of extremities
- Clinical presentation
- bilateral, symmetric, affecting both LE & UE
- cylindrical/fusiform appearing limbs
- absence of skin creases/joint dimples
- muscle atrophy, fibrosis
- Assocaited with brachycephaly, club foot, tarsal fusions, carpal fusions
- Classification: Weekes
- Single localized: hand or UE: internal rotation, elbow extended, wrist flexed, pronated, ulnarly deviated, thumb in palm
- Full expression: all limbs - as above for UE + shoulder adduction/internal rotation; LE hips adducted, internal rotated, knees flexed, club foot
- treatment options
- Non-operative - splint, serial casting
- Operative - tendon trasnfers, rotational osteotomies
Failure of Differentiation: finger flexion deformities
- trigger finger
- clasped thumb
What is the definition, clinical presentation, classification (clasped only) treatment options
TRIGGER FINGER
- Def: IP flexion deformity - due to A1 pulley or flexor sheath deformity
- Clinical presentation: at birth or later, IP flexion deformity, palpable Nota’s node. Familial inheritance.
- Cannot passively correct
- Associated with trisomy 13
- No classification
- Treatment
- 1/3 resolve if present at birth by age 1
- 1/10 resolve if present after birth
- If no resolution >3yo, release A1 pulley
CLASPED THUMB
- Def: MCP flexion deformity. Extensor lag at MCp +/-IP
- Clinical presentation
- on spectrum of thumb hypoplasia
- absence of EPB MOST COMMON
- BILATERAL, familial association
- Associated with windblown hand (ulnar flexion MCP deformity), Whistling face Freeman Sheldon (long philtrum, windblown hand, rocker bottom feet
- Classification: Weckesser
- type1 - extensor lag only
- type 2 - flexion contracture + extensor lag
- type 3 - thumb hypoplasia
- treatment accoding to weckesser
- Type 1 - abduction thumb splint 6mths, if no improvement=> EPB absent, do EIP transfer
- Type 2 - FPL lengthen, MCP jt release or MCP arthrodesis
- Type 3 - release adduction contracture, EIP for EPL, PL for APL
Failure of Formation: Syndactyly
What is the etiology, epidemiology, clinical presentation, classification
- etiology:
- Failure of AER, apoptosis, digital patterning
- Epidemiology:
- most common Congenital hand anomaly (1:2000)
- M:F 2:1
- R>L
- 50% bilateral (familial often bilat)
- 25% inherited, AD with variable penetrance
- Clinical presentation
- Patterns of Fusion: D3-4 > D4-5 >D3-2, >D2-1
- Associated with 3 syndromes: Polands, Aperts, Acrosyndactyly
- Associated with symbrachydactylyl, cleft hand/foot, toe syndactyly
- Synonychia - fused Nail plate => complex
- DIfferential motion fo DP =>simple
- Classification
- incomplete or complete: complete from web to tip at DIPjt, incomplete longer web
- simple or complex: simple sc only, complex fusion of bones
- Complicated: additional bones, some synostosis
Failure of Formation; Syndactyly
Discuss treatment timing, goals, staging, procedures
TIMING
- Early (6mth) if
- fusion of different length digit (border)
- complex
- acrosyndactyly
- Later (12-18mths)
- all others - not after 3yrs b/c cortex patterning instilled
GOALS
- as many functional digits as possible with fewest surgeries as possible
- early separation of border digits
- separation of nail plate, NV bundles, correct skeletal deformities
- wide deep webs
STAGING
- if multiple digits fused, staging to prevent ischemia, tension on closure
- Stage 1 - release D1-2, D3-4
- Stage 2 - release D4-5, D2-3
PROCEDURES
- DIGIT SEPARATION
- Dorsal flap: midline of adjacent digits, length 2/3rd distance form MCP to PIP.
- Synchronous dorsal and volar zigzag flap
- FTSG to deficien areas
- Web deepening
- Incomplete web: 3 flap webplasty (dorsal flap with interdigitating Z flap), 4flap z plasty, double opposing Zplasty
- 1st web: as above + FDMA, dorsal skin flap, regional flap
- Nail plate separation
- excision of central portion and 1’ closure
- Buck gramco laterally based triangular tip flaps
Failure of formation: Acrosyndactyly
What is the definition, clinical presentation, treatment
- Def: fenestration (sinus) proximally in web and distal fusion
- Clinical presentation
- bilateral
- Associated with constriction band syndrome
- may have complex fusions
- Treatment
- as syndactyly except timing early at 6mths
Failure of formation: Apert hand
What is the definition, classification and treatment
Def: complex synctalyly pathognomonic for Aperts =>fusion of D2,3,4 into central mass and D1/5 may be invovled. Thumb, if separate, radially deviated
Classification: Upton
- Accoding to 1st and 4th web and central mass
- Type 1
- 1st&4th web: incomplete simple syndactyly
- Central mass - flat, good MCPs, IP symphalangism, no synonychia
- Type 2
- 1st&4th web: complete simple syndactyly
- Central mass - concave, synonychia with distal fusion of DPs and proximal splaying of MC
- Type 3
- 1st&4th web: complete complex syndactyly
- Central mass - thumb incorporated, tight cupping, synonychia, D2 ray skeletal abnormalities
TREATMENT according to Upton’s Type
- Type 1-2, stage
- Stage 1 - thumb corrected position w ostetomy and release 2nd and 4th web to create 3 digits
- Stage 2 - release remaining digits
- Type 3
- separate synonychia first (multiple infx risk)
- then stage as above
What are the functional joints in Aparts complex syndactyly?
MCPs and D5 DIP
Failure of Differentiation: Cmaptodactyly
What is the definition, etiology, clinical presentation, classification, differential diagnosis, treatment options
- Def: congenital PIPj flexion contracture
- Etiology
- unknown - Macfarlane hypothesized lumbrical anomalous insertion on D5 PP to act as flexor not extensor of IP
- Clinical presentation
- 2/3 bilateral,
- AD w variable penetrance
- may be congenital or acquired
- Classification
- Reducible or not
- congenital or acquired
- Type 1 - congenital - present at birth, isoalted, usually just D5
- Type 2 - acquired - presents in preadolescent
- Type 3 - severe - associated w syndrome
- DDX
- marfans, juvenile palmar fibromatosis
- arthrogryposis, symphalangism, trigger finger
- Beals syndrome (congenital contractural arachnodactyly
- Treatment
- Non-op - most
- splinting, serial casting. Usual <30’ can be corrected non-op
- Operative - if >90 flexed, failed conservative
- FDS trasnfer to extersor apparatus
- lumbrical release
- arthrodesis
- Non-op - most
What are 4 features on xray of camptodactyly?
LATERAL XRAY
- flat dorsal head of PP
- exaggerated recess neck of PP
- narrowed PIP joint space
- volar base beak on MP
Failure of Differentiation: Symphalangism
What is the definition, clinical presentation, classification, treatment
- Definition; congenital stiffness of IPjts, most commonly PIP
- Clinical presentation
- AD
- ulnar digits most common D5>D4>D3>D2
- due to poor formation of joint surfaces and resulting ankylosis - usually stiff/fused in extension
- poorly formed MP
- Classification - Flatt
- type 1 - true symphalangism - stiff w normal Phalangeal length
- type 2 - symbrachydactyly - most common - stiff w shortened length
- type 3 - symphalangism w assocaited abnoralities (clinodactyly, hearing defect)
- Treatment
- non-op - not effective
- Operative; fusion in correct position
Failure of differentiation: clinodactyly
What is the definition, etiology, prsentation, classification, treatment?
- Def: Angular deformity due to abnormal phalageal growth (longitudinal bracket epiphysis)
- Etiology
- epiphysis abnomrally present along diaphysis (C- J- shaped) leading to abnormal growth (delta phalanx)
- Presentation
- AD, inherited forms usually bilateral
- D5 MP and D1 PP most common location
- most comomn radial deviation D5 MP
- Rarely in isolation
- Assocaited with symphalangism, polydactyly, syndactyly, Polands, CLEFT foot
- Associated with syndromes Apert/Pfeiffer (=>thumb delta phalanx), Downs (D5 delta phalanx)
- Classification - Cooney
- type 1 - simple - bone <45’angulation
- type 2 - simple complicated - bone >45’
- type 3 - complex - bone and ST deformity <45’ & syndactyly
- type 4- coplex complicated - bone & ST deformity >45’ & polydactyly /gigantism
- Treatment
- non-op not effetcive
- OPeratie - only if >45’ and functional/cosmetic defomrity
- Osteotomies - closing/opening wedge, rotation, reversed
Failure of differentiation: triphalngeal thumb
What is the defintion, features, associations treatment
- Def: hypersegmentation anomaly - 3rd phalanx
- Features
- abnormal phalanx
- web contracture
- thenar hypoplasia
- Associated with
- Holt Oram, polydactyly, blood dyscrasias, cleft foot
- Treatment
- at 12mths
- resect phalanx, deepend 1st web, opponenplasty if required later
- at 12mths
How do you classify polydactyly
Stelling
Type I - extra soft tissue mass only
Type 2 - extra whole digit articulating with MC/P
Type 3- extra whole digit articulating w EXTRA MC
Crossed polydactyly - invovles hand and feet
Mixed polydactyly - invovles both ulnar/radial
What is central polydactyly and treatment
- duplicate central digit, most ofeten assocaited with SYNDACTYLY
- most common ulnar digits
- frequent bilateral +/- feet
- Treatment
- carry out normal syndactyly release, recon DTML
Duplication - Post axial polydactyly
What is the definition, epidemiology, classification, treatment
- Def: duplication of little finger
- Epidemiology
- cited as most common congenital hand anomaly
- most common polydactyly
- frequently bilateral
- 8x more common in africans
- can be isolated, AD or syndromic, AR
- Classification - McKusick, Stilling, Temtamy
- TYpe A - well developed digit
- Type B - rudimentary digit (no bone articulation)
- Treatment
- after 6months
- Goals: remove extra digit, rebalance ST/jt/tendons
- Type A: excise ulnar-most digit, reattach UCL/hypothenar muscles
Duplication: Ulnar dimelia
What is the definition, clinical presentation, treatment goals and procedure
- Def: charcaterized by absent radius and two ulnae, 7-8 digits and no thumb
- Clinical presentation
- usually soradic, unilateral
- if inherited, bilateral +/- associated with fibular dimelia
- stiff elbow, flexed wrist, poor pron/sup
- duplicated ulnar carpal bones
- stiff IP joints
- bifucated flexor tendons shared by digits
- 2 ulnar arteries joined by one superficial palmar arch
- Treatment goals
- correct elbow stiffness
- improve pronation/supination
- improve wrist stiffness
- create thumb and webspace
- remove multiple digits
- Treatment steps
- preaxial ulna resected subperiosteally at elbow joint
- tendon lengtheing of flexors and transfer to extensors
- pollicization of pre-axial digit
- amputation of other excess digits
Overgrowth: Macrodactyly
What is definition, clinical presentation, DDX, associated syndromes, treatment
- Definition: overgrowth of all structures in digit
- Clinical presentation
- usually single digit or 2-3 digits adjacent to one another
- may be static (large at birth) or progressive (more commonly, faster gorwth rate compared to other digits)
- Unilateral, right
- most common index, long
- DDx
- macrodactyly, hemihypertrophy, Vascular malformation, lymphatic malformation, neurofibromatosis, proteus
- Associated syndromes
- neurofibromatosis, lipomatosis
- Maffucci, Ollier (high maignant potential)
- Klippel trenaunay
- Proteus (hamartomatous dysplasia, hemihypertrophy, feet/hand macrodactyly, parotid/ovarian tumor, CLVM)
- Treatment
- Ray amputation (preferred if non-fx)
- debulking (not effective)
Congenital ring syndrome
What is the etiology, clinical presentation, associations, classification, treatment
- Etiology
- external - amnion band constricting limb
- Clinical presentation
- all sporadic
- most commonly afftect index/long fingers
- proximal tissues form the band are normal
- Assocaited with Oligohydramnios, prematurity
- Classification: Patterson
- Type 1 - shallow band
- Type 2- deep band with distal lymhedema
- Type 3 - distal fusion of structures (acrosyndactyly)
- A- fusion of tips
- B- fusion of tips and incomplete web formation
- C- just fenestration in web
- Type 4 - intrauterine amputation
- Type 5 - mixed
- Treatment
- Type A: for cosmesis - excise and release band w zplasty. Need to monitor for acute edema/impedending tissue loss
- Type B : ass. w edema, neuro deficit; release band w zplasty, consider staged doing 1/2 at a time
- Type 3 - treat as acrosyndactyly, earile than 12m
Generalized skeletal abnormalities: Madelung’s deformity
What is the definition, presntation, assocaitions, xray findings, treatment
- Def: congenital abnormal groth of radius physis at the volar ulnar aspect of the distal bone
- = dorsal subluxation of ulna
- = volar ulnar subluxation of carpus
- Presentation
- usually in adolescence with wrist pain/stiffness, limited supination, extension
- females, sporadic, bilateral
- P/E: carpus volar ulanr, ulna dorsally subluxed, limited supination, limited finger extension/EDC rupture, +/- CTS
- Xray: Radial volar angulation of radius and ulna dorsal subluxation
- Assocaited w:
- kienbock, achondroplasia, ollier, MPS
- Treatment
- tx at skeletal maturity if possible adn symptomatic
- jt leveling procedure
- partial/total radiocarpal arthrodesis
- radioulnar arthrodesis