Congenital Hand Flashcards
What is this?
Cleft hand (central)
characterised by the absence of 1 or more Central digits of the hand /foot
Swanson type 1= failure of formation= longitudinal arrest of CENTRAL RAY-> V shaped cleft in centre of hand
What are the types of cleft hand?
Unilateral vs Bilateral
Isolated vs Syndromic
What is the epidemiology of cleft hand?
Rare 1 :10,000 to 1 :90,000 births
Males 5:1 females
location- hands usually BILATERALLY
assoc with ABSENT METACARPALS ( helps diff symbrachydactyly)
Missing MIDDLE FINGER
Small finger always present
What is the pathogenesis of cleft hand?
What is the genetics pattetn of cleft hand?
Wedge shaped degeneration of Central part of Apical Ectodermal ridge (AER) because of loss of function of certian genes expressed in that part of AER
Genetics
Autosomal dominant with reduced penetrance 70%
affected families go thru genetics counselling
Can you name any associated conditions of cleft hand?
Ectrodactyly- ectodermal dysplasia- cleft- ECC syndrome
triad of ectrodactyly ( loss central finger) ectodermal dysplasia and facial clefts
Sensorineural hearing loss
Syndactyly (Together/ 2 or more digits fused)
Polydactyly ( Many digits)
What is the prognosis of cleft hand?
Depends on Involvement of 1st webspace
Aesthetically displeasing but not functionally limiting
Can you name the classification system of cleft hand?
Manske and Halikis
_KEY - 1st web space _
**1= normal web- **thumb space not narrowed
2A= mildly narrowed web- thumb space midly narrowed
2B= Severly narrowed WS-thumb space severly narrowed
3= Syndactyly web- thumb/index web syndactylised
4= Merged web- thumb ws merged w cleft
5= Absent Web- thumb space no longer
see link below for pictures
What are the signs and symptoms of cleft hand?
Symptoms
aesthetic limitations
functional limitations
O/E
Absent or shortened central ( third) ray
may have absent radial digit
may have syndactyly of ulnar digits
What are the Investigations of cleft hand?
xrays- ap , lateral and oblique of bilateral hands
Foot xrays if involved
What are the TX of cleft hand?
NonOperative: Observations-
in Manske and Halikis type 1 (normal wb) & 4 (merged WB)
Operative: aim to improve hand function - ability to grasp, pinch and let go of objects, improve asthetics
**Thumb web space, thumb and central cleft reconstruction **in Manske and Halikis types 2A, 2B, 3 & 4
Describe the techniques for surgical tx of cleft hand?
Thumb, web space reconstruction
web space deepening, tendon transfer, rotational osteotomy , toe- hand transfer
Thumb reconstruction has greatest priority over cleft closure
Thumb reconstruction shouldn’t precede cleft closure - comprise skin flaps
Central cleft reconstruction
Depends on type of web space
Close cleft with tissue proper form cleft and stabilise adn close intermetacarpal space
What is Symphalangism?
Congential digital STIFFNESS/ ANKYLOSIS of IPJ either
Hereditary symphalangism
Non hereditary symphalangism
What is the Epidemiology and pathophysiology of Symphalangism?
More common in ulnar digits
Pathophysiology
it is failure of the IP joints to differentiate during development
What is the genetic pattern of symphalangism?
Can you name any associated conditions?
Autosomal Dominant
Syndactyly (nonheritary)
Apert’s syndrome ( nonh)
Poland’s Syndrome ( nonH)
Correctible hearing loss ( Hereditary)
What are the signs of symphalangism?
Absence of FLEXION or EXTENSION Skin Creases
Stiff digits
see pic- long finger effected - no skin crease at pipj
What investigations are helpful in symphalangism and what do you see?
Xrays- IPJ narrow
What are the tx of symphalangism?
Non operative- Observation- in children
Operative
Capsulectomy- limited success
IPJ arthroplasty- Limited success
Angular osteotomy- rarely required due to adequate digitial function
Arthrodesis- considered in adolescent to improve function and cosmesis- rarely required due to adequate digital function
What is this?
Camptodactyly
Congential digitial flexion deformity of PIPJ of small finger
What is the Epidemiology of Camptodactyly?
<1%
Unilateral or Bilateral
If bilateral can be symmetrical or assymetrical
Describe the pathophsyiology of camptodactyly?
What is the genetics of camptodactylyl?
Abnormal lumbrical insertion/origin
Abnormal extensor hood
Abnormal volar plate
Skin, subcutaneous tissue or dermis contracture
Genetics
Sporadic
What is the classification of Camplodactyly?
Type 1- In Infancy M=F most common form
Type 2- Adolescence F>M
Type 3- Multiple digits involved. > severity
Kimer’s Deformity-specific deformity little finger, preadolsecent Girls, bilateral, usual no functional deficit
What are the symptom and signs of Camplodactyly?
Symptoms
Often go unnoticed as usually affects small finger, Rarely affects function
typically painless without motor/sensory loss
O/E
FLEXION DEFORMITY of small finger PIPJ
Fixed vs flexible deformity
Worsens during growth spurts
What is the tx Camplodactyly?
Normal Xrays
Non operative: Passive stretching+ static splinting
For most cases, best for contractures <30 degrees
Outcome- variable, better with early intervention
Operative
**FDS Tenotomy +/- FDS transfer ( to radial lateral band **if full active PIPJ extension can be achiveved with MCP flexion- for progressive functional impairment- flexible deformities
**Osteotomy vs Arthrodesis- **severe fixed deformities
What is this?
Clinodactyly, from the greek- clino-“bent”
Congential curvature of digit in RADIOULNAR plane
Found 25% of Down’s syndrome , 3% general population
What is the pathoanatomy of Clindodactyly?
Autosomal Dominance
Middle phalanx of small finger most commonly affected
What is the Classification of Clinodactyly?
Type 1- minor angulation with normal length- most common
TYpe 2 - minor angulation with short length
Type 3- Significant angulation and delta phalanx- c shaped epiphysis and longitudinal bracketed diaphysis)- see pic
What are the Symptoms of Clindodactyly?
What is seen on xray?
Function rarely compromised- ADL effected when deformity reaches 30-40 degrees
C shaped Physis-> Delta Phalanx
What is the Tx of clinodactyly?
Non operative- Observation- most cases
Operative-
Phalanx opening wege osteotomy +/- Bone excision
In type 3 delta phalanx, when deformity enroaches digital space of neighbouring short digit technique
What is this?
Syndactyly- from greek - “together”
where 2 or more digits are fused together
Most common congential malformation of the limbs
What is the Epidemiology of Syndactyly?
1 in 2,000- 2,500 live births
M>F
Causicans > African Americans
50% long- ring finger
30% ring- small finger
15% index- long finger
5% thumb- indes
What is the Pathophysiology of Syndactyly?
What is its Genetics?
Failure of apoptosis to separate digits
Autosomal dominance in pure syndactyly
Positive FHx in 10-40% cases
Name some associated conditions with Syndactyly?
CHAAP
Acrosyndactyly- see pic- digits fuse distally and proximal digit has fentrations ( constriction ring syndrome)
Poland Syndrome (chest wall deformity/limb hypoplasia)
Apert Syndrome (AutoDom w mental retardation,craniosynostosis)
Holt-Oram sydnrome ( heart and limb abn)
Carpenter syndrome- acrocephalopolysyndactyly
What is the classification of Syndactyly?
1)Simple- only soft tissue, no bony involvement
2)Complex- Side to side fusion of adj phalanges, involves bones
3) Complicated- accessory phalanges or abnormal bone involved in fusion
Complete vs incomplete
Complete = skin extends to finger tips
incomplete- skin doesn’t extend to fingertips
What is the Tx of syndactyly?
Describe the technique?
Operative
Digital Release if syndactyly preform at 1 yr
acrosyndactyly- preform in neonatal period
Technique
If mutlple digits are involved preform in 2 stages to avoid compromising vasculature
Release digit with significant length differences ti avoid growth disturbance
Zigzag flaps are created during release to avoid LONGITUDINAL scarring
What are the complications of syndactyly?
Web Creep- most common complx of surgical tx- distal migration and scarring in the comissure between the fingers that -> recurrence of syndactyly
Tx by reconstruct web space with local skin flaps
Nail deformities
What is this?
Poland Syndrome
A congential disorder characterise by
Unilateral chest wall hypoplasia- due to absence of Sternocostal head of Pect Major
Hypoplasia of hand /forearm
Symbrachydactyly & shortening of middle fingers ( Absent/shortening of middle phalanx)
Simple incomplete syndactyly of short digitis
What is the epidemiology of Poland Syndrome?
1 in 32,000 live births
occurs 10% syndactyly cases
M> F
Right side of body cf left
What is the etiology of poland syndrome?
Thought to be linked to Subclavian Artery Hypoplasis
What are the signs of Poland Syndrome?
Chest
Hypoplasia/ absent Pect major. pect minor, deltoid, serratus ant, ext oblique, lat dorsi
Sprengel’s deformity
Scoliosis
Dextracardia
Absent/underdeveloped breasts
Hand deformities
Symbradydactyly- see pic
Hypoplasia/ Absent Metacarpals or phalanges
Absent extensors/ flexor tendons
Capral coalition/ hypoplasia
Radioulnar synostosis
Nail agenesis
What investigations are useful in Poland syndrome?
Ct- shows absent Pectoralis major, costal cartilage and rib absences. ( see pic)
What is the TX for Poland syndrome?
Operative
**Syndactylyl release- **preformed in most patients
complete syndactyly release- > skin deficiency requiring skin grafting
Perform one side of the digit at the time to avoid vascular compromise
local flap is created by commisure reconstruction by interdigitating zigzag dorsal and palmar flaps along medial and lateral aspect of the digit.
What are the Complications of Poland’s syndrome tx?
Skin graft failure
Excessive tension
Improper flap planning
Digital artery injury
Web creep
Nail deformity
What is this ?
Apert’s Syndrome
A congential syndrome characterised by
Bilateral complex syndactyly of hands/feet
Symphalangism- ankylosing IPJ
premature fusion of cranial sutures- craniosynostosis-> falttening skull/ broad forehead ( acrocephaly)
Hypertelorism ( wide set eyes- increased distance)
Normal to moderate congential function
Glenoid hyperplasia
Radioulnar synostosis
What is the genetics of Apert’s syndrome?
Autosomal Dominant
Mutation of Fibroblast Growth Factor receptor 2
FGFr2-gene
What is the epidemiology of Apert’s syndrome?
What is Apert’s syndrome prognosis?
Incidence is 1/80,000
Spectrum of normal to moderately disabled cognitive function
What are the signs of Apert’s syndrome?
Dysmorphic face- craniosynostosis
Rosebud hands- complex syndactyly where the index, middle and ring finger share common nail
Describe investigaitons in Apert’s syndrome?
Xrays= comples syndactyly
What is the Tx of complex syndactyly in Apert’s Syndrome?
Operative
Surgical release of border digits- preform at 1 yr
Digit reconstruction- preform 1.5 yrs to convert central 3 digits to 2
What is polydactyly?
What forms exist?
A congential malformation of the hand- involving duplication of digits
3 forms exist:
Preaxial polydactyly= Thumb Duplication
Postaxial polydactyly= Small finger Duplication
Central Polydactyly
Describe the epidemiology of preaxial polydactylyl?
1 per 1,000 to 10,000 live births
Type 4 most common - 43%
Type 2- second most -15%
Normally Unilateral and sporadic
Except type VII which is associated with several syndromes
Describe the syndromes associated with type VII preaxial polydactyly?
HOF BICT
Holt-Oram syndrome
Fanconi’s anaemia
Blackfan-Diamond anemia
Imperforates anus
Cleft palate
Tibial defects
Describe the Classification of Pre-axial Polydactyly?
Wassel- think W of thumb
Type 1- Bifid distal phalanx
Type 2- Duplicated distal phalanx
Type 3- Bifid Proximal Phalanx
Type 4-Duplicated proximal phalanx- most common
Type 5- Bifid Metacarpal
Type 6 - Duplicated Metacarpal
Type 7- Triphalangia
(Distal P/prox p or mc remains duplicated after the next deformity progressses proximally)
What are the goals of Tx in pre-axial polydactyly?
- To construct a thumb that is 80% size of contralateral thumb
- Resect a smaller thumb (usually radial component)
- Preserve/reconstruct medial collateral structures in order to preserve PINCH function
- Reconstruction of all components typically done in one procedure
Describe the Tx of pre-axial polydactyly?
- Type 1 combination- Bilhaut- celoquet for type 1,2,3 Removes central tissue & combining both digits into one - approx 20% have late deformity. complx- stiffness, angular/size/nail deformity , growth arrest
- Type 2 comb0-type 3/4 aim to preserve skeleton & nail of one component and augment with soft tissue from other digit & ablation of lesser digit ( radial)
- Type 3- type 5,6,7-used when 1 digit has superior proximal component and 1 digit has superior distal fragement- do a segmental distal transfer
Describe the epidemiology of post axial polydactyly?
Small finger duplication
10X more common in African Americans
Inherited as Autosomal Dominant
More complex genetics in Causicans- genetics required- assoc with chondroectodermal dysplasia / ellis- van Creveid syndrome
Describe the classificatio of post -axial polydactyly?
- Type A- Well formed digit
- Type B- Rudimentary skin tag (vestigial digit)
Describe the tx of Tx of type A post axial polydactyly?
Formal reconstruction by
- Preserve radial digit
- Preserve or reconstruct collateral ligaments from ulnar digit remanant
- Preserve muscle
Describe the Tx of type B post -axial polydactyly?
Tie off in nursey/ampuation before 1 yr old
Can you describe the eipdemiology of central polydactyly?
Commonly associated with syndactyly
What is the Tx of central polydactyly?
Osteotomy and ligament reconstruction- perform early to prevent angular growth deformities
What is this?
Decribe its epidemiology?
Macrodactyly- non hereditary congential digit enlargement- all structures of digit enlarged
- V rare
- 90% unilateral
- 70% involve > 1 digit
- Index finger involved more frequently
- index, then thumb, ring and small
- Unknown risk factors
Can you describe the pathyphysiology?
Etiology unknown
No genetic predisposition
Affected digits- neurological innervation- particularly Median N
Can you name any associated conditions of Macrodactyly?
Lipfibromatous hamartoma of the median nerve
Proteus syndrome
Maffucci’s syndrome
Ollier’s syndrome
Milroy’s disease
What is the classification of Macrodactyly?
If STATIC - present at birth- growth is linear
If Progressive- not as noticeable at birth but worsens over time
What are the signs and symptoms of macrodactyly?
Symptoms:
Pain
Inablilty to use the digit
Cosemesis
Signs;
Thick, fibrofatty tissue enlarged digit
ROM and stability reduced due to soft tissue constraints
What investigations are useful for Macrodactyly?
Xrays- Biplanar
Enlarged Phalanges- may see enlargement of joints/angles phalanges
Ct/MRI not typically required
Can you describe the tx of macrodactyly?
Non operative
Observation in some cases
Operative:
Epiphysiodesis - for single digit/ preform when adult size of digit cf same sex adult- aim for early rom and soft tissue care
Osteotomies and shortening procedure- for thumb involvement, mutiple digit involvementa and severe deformity
Amputation- severe involvment- non reconstruction digit
What are the complications of Macrodatyly?
Digital stiffness
Chronic digital pain and oedema
What is this?
Constrictive ring syndrome
A malformation due to intruterine rings/bands which constrict fetal tissue
The anatomy proximal to constrition is normal.
Aka Streeter’s dysplasia
What is the epidemiology of constrictive band syndrome?
Incidence= 1/1200 and 1/15000 live births
M=F
Location- usually affects distal extremities
Hand and fingers 80% time
Rare for only one ring to be present as an isolated malformation
Genetic- sporadic no heredtary predisposition
Risk factors
Prematurity
Maternal illness
Low birth weight
Drug exposure
What is the pathoanatomy of Constrictive band syndrome?
Exact Aetiology UNKNOWN theories include
- intrauterine disruption oduirng pregnancy
- Intrauterine trauma
- Intrinsic anomaly in germ plasm resulting in the defects
- * most accepted= disrupted amnion releases fibrous membranous strands which wrap around the developing limb in a circumferential fashion-
Name associated conditions with constrictive band syndrome?
Club foot - most common
Syndactyyly
Name a classification system for constrictive band syndrome?
Patterson Classificarion
- Type 1=Simple Constriction rings- mild ring w no distal deformity/lymphoedma
- Type 2= Rings with distal deformity- ring may cause distal lymphoedema in assoc w deformity
- Type 3- Acrosyndactyly- fusion between more distal portions of the digits with the space between the digits varying from broad to pinpoint- see pic
- Type 4= Amputation- loss of limb distal to ring
link to photos of all types http://www.orthobullets.com/hand/6081/constrictive-ring-syndrome
What are the signs of Constrictive band syndrome ?
Diagnosed at birth- intrauterine dx wih USS at end of forst trimester
Check for pulses and perfusion
What is the TX of Constrictive band syndrome?
Non operative- type 1 observe
Operative
Type 1 w compromise digital circulation= Excision or release of constriction bands
Type 2 w distal deformities= Surgical release with multiple circumfernetial Z plasties-
Type 3 w distal fusions - surgical release of syndactyly
Type 4- reconstruction of involved digit or limb- lengthening of bone/deepening of web space
Intrauterine band release- can be done if risk of limb ampuation- v rare
