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Congenital Hand Flashcards

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1
Q

What is this?

A

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

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2
Q

What are the types of cleft hand?

A

Unilateral vs Bilateral

Isolated vs Syndromic

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3
Q

What is the epidemiology of cleft hand?

A

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

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4
Q

What is the pathogenesis of cleft hand?

What is the genetics pattetn of cleft hand?

A

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

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5
Q

Can you name any associated conditions of cleft hand?

A

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)

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6
Q

What is the prognosis of cleft hand?

A

Depends on Involvement of 1st webspace

Aesthetically displeasing but not functionally limiting

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7
Q

Can you name the classification system of cleft hand?

A

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

http://www.orthobullets.com/hand/6072/cleft-hand

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8
Q

What are the signs and symptoms of cleft hand?

A

Symptoms

aesthetic limitations

functional limitations

O/E

Absent or shortened central ( third) ray

may have absent radial digit

may have syndactyly of ulnar digits

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9
Q

What are the Investigations of cleft hand?

A

xrays- ap , lateral and oblique of bilateral hands

Foot xrays if involved

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10
Q

What are the TX of cleft hand?

A

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

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11
Q

Describe the techniques for surgical tx of cleft hand?

A

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

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12
Q

What is Symphalangism?

A

Congential digital STIFFNESS/ ANKYLOSIS of IPJ either

Hereditary symphalangism

Non hereditary symphalangism

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13
Q

What is the Epidemiology and pathophysiology of Symphalangism?

A

More common in ulnar digits

Pathophysiology

it is failure of the IP joints to differentiate during development

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14
Q

What is the genetic pattern of symphalangism?

Can you name any associated conditions?

A

Autosomal Dominant

Syndactyly (nonheritary)

Apert’s syndrome ( nonh)

Poland’s Syndrome ( nonH)

Correctible hearing loss ( Hereditary)

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15
Q

What are the signs of symphalangism?

A

Absence of FLEXION or EXTENSION Skin Creases

Stiff digits

see pic- long finger effected - no skin crease at pipj

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16
Q

What investigations are helpful in symphalangism and what do you see?

A

Xrays- IPJ narrow

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17
Q

What are the tx of symphalangism?

A

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

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18
Q

What is this?

A

Camptodactyly

Congential digitial flexion deformity of PIPJ of small finger

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19
Q

What is the Epidemiology of Camptodactyly?

A

<1%

Unilateral or Bilateral

If bilateral can be symmetrical or assymetrical

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20
Q

Describe the pathophsyiology of camptodactyly?

What is the genetics of camptodactylyl?

A

Abnormal lumbrical insertion/origin

Abnormal extensor hood

Abnormal volar plate

Skin, subcutaneous tissue or dermis contracture

Genetics

Sporadic

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21
Q

What is the classification of Camplodactyly?

A

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

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22
Q

What are the symptom and signs of Camplodactyly?

A

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

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23
Q

What is the tx Camplodactyly?

A

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

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24
Q

What is this?

A

Clinodactyly, from the greek- clino-“bent”

Congential curvature of digit in RADIOULNAR plane

Found 25% of Down’s syndrome , 3% general population

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25
What is the pathoanatomy of Clindodactyly?
**Autosomal Dominance** **Middle phalanx** of **small finger** most commonly affected
26
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
27
What are the Symptoms of Clindodactyly? What is seen on xray?
Function rarely compromised- ADL effected when deformity reaches **30-40 degrees** ## Footnote **C shaped Physis-\> Delta Phalanx**
28
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
29
What is this?
**Syndactyly-** from greek - "together" where 2 or more digits are fused together **Most common congential malformation of the limbs**
30
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
31
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**
32
Name some associated conditions with Syndactyly?
**CHAAP** **Acrosyndactyly**- see pic- digits fuse distally and proximal digit has fentrations ( constriction ring syndrome) **P**oland Syndrome (chest wall deformity/limb hypoplasia) **A**pert Syndrome (AutoDom w mental retardation,craniosynostosis) **H**olt-Oram sydnrome ( heart and limb abn) **C**arpenter syndrome- acrocephalopolysyndactyly
33
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
34
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
35
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**
36
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
37
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
38
What is the etiology of poland syndrome?
Thought to be linked to **Subclavian Artery Hypoplasis**
39
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
40
What investigations are useful in Poland syndrome?
Ct- shows absent Pectoralis major, costal cartilage and rib absences. ( see pic)
41
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.
42
What are the Complications of Poland's syndrome tx?
Skin graft failure Excessive tension Improper flap planning Digital artery injury Web creep Nail deformity
43
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**
44
What is the genetics of Apert's syndrome?
**Autosomal Dominant** Mutation of **Fibroblast Growth Factor receptor 2** **FGFr2-gene**
45
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
46
What are the signs of Apert's syndrome?
Dysmorphic face- **craniosynostosis** **Rosebud hands**- **complex syndactyly** where the i**ndex, middle and ring finger share common nail**
47
Describe investigaitons in Apert's syndrome?
Xrays= comples syndactyly
48
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
49
What is polydactyly? What forms exist?
A congential malformation of the hand- involving duplication of digits ## Footnote _3 forms exist:_ **Preaxial polydactyly= Thumb Duplication** **Postaxial polydactyly= Small finger Duplication** **Central Polydactyly**
50
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**
51
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
52
Describe the Classification of Pre-axial Polydactyly?
**_Wassel_-** think W of thumb ## Footnote **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)
53
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
54
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**
55
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
56
Describe the classificatio of post -axial polydactyly?
* **Type A- Well formed digit** * **Type B- Rudimentary skin tag** (vestigial digit)
57
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
58
Describe the Tx of type B post -axial polydactyly?
**Tie off in nursey/ampuation before 1 yr old**
59
Can you describe the eipdemiology of central polydactyly?
Commonly associated with syndactyly
60
What is the Tx of central polydactyly?
**Osteotomy and ligament reconstruction**- perform early to prevent angular growth deformities
61
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**
62
Can you describe the pathyphysiology?
**Etiology unknown** **No genetic predisposition** Affected digits- neurological innervation- particularly **Median N**
63
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
64
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
65
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
66
What investigations are useful for Macrodactyly?
Xrays- Biplanar Enlarged Phalanges- may see enlargement of joints/angles phalanges Ct/MRI not typically required
67
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
68
What are the complications of Macrodatyly?
Digital stiffness Chronic digital pain and oedema
69
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
70
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**
71
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**-
72
Name associated conditions with constrictive band syndrome?
**Club foot - most common** **Syndactyyly**
73
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](http://www.orthobullets.com/hand/6081/constrictive-ring-syndrome)
74
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
75
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
76

Hands FRCS (28 decks)

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