Upper-Extremity Congenital Anomalies

dr. Muchtar, SpBP

Basic Terms

• Congenital: “present at birth” • Does not denote etiology• may or may not be genetic

• Genetic: Determined by genes• Anomaly: A structural defect– Major anomalies, minor anomalies, normal

variants

Basic Terms

• Malformation: A primary structural defect in tissue formation

• Abnormal development (morphogenesis) of tissues due to genetic or teratogenic causes

• Deformation: result of abnormal mechanical forces acting on normally developed tissue

• Disruption: represents an interruption of development of otherwise normal tissue.

Basic Terms• Sequence (ms, ds, ds): A pattern of multiple

anomalies derived from a single known or presumed cause

• ie – Potter Sequence (Renal & Lung), Pierre-Robin Sequence

• Association: a nonrandom occurrence of multiple malformations for which no specific or common etiology has been found

• ie – VACTERL Association

• Syndrome: a recognized pattern of anomalies with a single, specific cause

• ie – Holt-Oram Syndrome (mutation on Chromosome 12q) , Down Syndrome (trisomy 21)

Epidemiology / Etiology• Major anomalies evident at birth occur in approx.

2% of live births. • Some major anomalies present later in life• ½ of all aborted fetuses prior to 20 wks gest. have a

chromosomal anomaly (esp. Turner’s and trisomies)• 66% of major anomalies have no known etiology

• Minor anomalies present in 20% of infants with major anomalies

• May contribute to a recognizable pattern which may aid in diagnostic impression

• Most frequent in the face, distal extremities

• Phenotypic Variants:– Helpful to look at parents, racial/ethnic

background• Mongolian spots

– Common in hispanics, blacks, but only 2% of whites

• Macrocephaly– Can be a sign of hydrocephalus– Can be familial – measure the parents head sizes

Etiology of Anomallies

– Multifactorial– Mendelian Inheritance– Chromosomal– Teratogenic

Multifactorial

• Occur when one or more genetic factors combine with environmental factors.

• Includes congenital heart disease, neural tube defects, cleft, clubbed foot, and congenital hip dysplasia

Mendelian and Chromosomal

• Mendelian• Responsible for causing 0.4% of newborns to have

major malformations• Mostly autosomal dominant traits

• Chromosomal• Represent 0.2% of all newborns with major

malformations• 10% of infants with major malformations have

chromosomal disorders

Teratogenic Forces

– Drugs, chemical exposures, maternal infection, maternal metabolic state (ie – diabetes), mechanical forces

– Exposure usually most significant during 1st 2-12 weeks

Upper-extremity congenital anomalies

• 10% of congenital anomalies (Congenital anomalies affect 1%-2% of newborns)

Embryology Upper Extremity

• 4 – 8 weeks• Three signaling centers 1. The apical ectoderm ridge (proximal to distal direction) 2. The zone of polarizing activity (anterior to posterior /radioulnar direction) 3. The Wingless type signaling center (dorsal to ventral axis configuration)

Classification (Swanson, 1968) (adopted by America Society for Surgery of the Hand and the International Federation of Societies for Surgery of the Hand)

• Type I – Failure of formation• Type II – Failure of differentiation• Type III – Duplication• Type IV – Overgrowth• Type V – Undergrowth• Type VI – Constriction band syndrome• Type VII – Generalized anomalies and syndrome

Type I – failure of formation

1. Transverse arrest : shoulder to phalanx2. Longitudinal arrest : a. Preaxial : hypoplasia of the thumb or radius b. Central : typical (V shape deformity) & atypical cleft hand (lobster hand) -

c. Postaxial : - Hypoplasia of the ulna or hypothenar d. Intercalated longitudinal arrest : : -Phocomelia

1. Transverse arrest• Amelia• Transverse arrest at forearm level• Transverse arrest at the carpal, metacarpal, and

phalangeal level

2. Longitudinal arrest

a. Preaxial deficiency The classification (O'Rahilly,1951), • Type I - Short radius, no radial bowing or deviation,

no treatment • Type II - Hypoplastic radius, rare, no treatment • Type III - Partial absence with fibrous anlage most

common; requires centralization procedure • Type IV - Total absence, 2nd most common; elbow

joint usually deficient; soft tissue release and centralization

Classification

• A, Type I—short distal radius.

• B, Type II—hypoplastic radius.

• C, Type III—partial absence of radius.

• D, Type IV—total absence of radius

Total absence of radius

Treatment • Types I and II do not require treatment • In the severe forms, some patients should not be

operated on, including adult patients well adapted to the deformity, those with severe associated malformations, patients with mental retardation such that hand function is immaterial, those with inadequate elbow flexion, and those with tight neurovascular structures

• Serial splintage, casts, and passive stretching are useful to maintain soft tissue length

• Surgical management : 1. Soft tissue release 2. Centralization of the carpus 3. Pollicization of the index finger 4. Tendon transfers and arthrodesis of the wrist

2.Longitudinal arrest

b. Central deficiencyThe typical cleft hand• Varying degree of long ray absence : most

commonly the phalanges are missing, & metacarpals are present.

• Often bilateral• Usually inherited• Associated with cleft lip & palate (or systemic

conditions)

2.Longitudinal arrestb. Central deficiencyThe typical Cleft hand• Three generations of typical

central deficiency with different degrees of expression. Both of the grandmother's hands (bottom) and the mother's left hand (center) are missing only the long finger. The mothers right hands and both of the infant’s finger also missing the adjacent index and/or ring finger

Treatment (Typical Cleft Hand)

• Syndactyly release• Metacarpal transfers• Avoid procedure that can jeopardize function

2.Longitudinal arrest

b. Central deficiencyThe Atypical Cleft Hand (lobster hand)• Index, long & ring fingers are absent,

metacarpals are present• A form of Symbrachydactyly• Not associated with systemic conditions• Not inherited• Usually unilateral, & sporadic

• The right upper extremity has an atypical cleft hand, a form of symbrachydactyly.

Treatment (Atypical Cleft Hand)

• Surgical treatment is directed to attainment of the features of a basic hand.

• Excision of hypoplastic nubbins may be performed

c. Postaxial : - type I : Deficient ulna, minimal deformity - type II : Partial absent - Type III : Total absent - Type IV : Humeroradial synostosys; short limb

• A three-year-old child with ulnar deficiency of the right upper extremity. The elbow is fused, and the hand has two fingers and no thumb.

Treatment (postaxial deficiencies)

• Manipulation and splintage• Resection of the anlage ( controversial)• Creation of a 1-bone forearm• Rotational osteotomies for humeroradial

synostosis

d. Intercalated longitudinal arrest -- various type of phocomelia a functional terminal element is always present. The types of phocomelia : (1) the hand attaches to the shoulder (forearm and arm deficient), (2) forearm attaches to the shoulder (arm deficient), and (3) the hand attaches to the arm (forearm deficient).

Intercalated Phocomelia

Treatment (Phocomelia)

• Best treated by the prosthetist (when the phocomelic hand can reach the mouth, even this is not indicated)

Type II – Failure of differentiation

• Soft tissue - Syndactyly, trigger thumb, Poland syndrome (Pectoralis may&min -, breast hyploplasia), camptodactyly

• Skeletal - Various synostosis and carpal coalitions

• Tumorous conditions - Include all vascular and neurologic malformations

• Syndactyly - Failure of separation 2 or more digits - Incomplete or complete - Simple, complex, complicated - Most common in white, male children - sporadically or autosomal dominant trait

• Trigger thumb - Flexion deformity of the interphalangeal joint cause by constriction of the A 1 pulley - Can occur in other fingers - Spontaneous resolution > 30%

• Camptodactyly - Painless flexion contracture of the proximal interphalangeal joint of the small finger - Gradually progressive - Occur in < 1% population - Bilateral in 1/3 patients

• A sixteen-year-old boy with otopalatodigital syndrome and bilateral hand camptodactyly. Flexion deformities of all fingers are present; they are most severe in the ring and small finger

Treatment (Camptodactyly)

• Infancy : splinting and streching• Severe contracture and fail in conservative

management : surgical (release anomalous lumbrical, lengthen a tight FDS, etc)

Type II - Failure of differentation (Vascular malformations)

Type III - Duplication

Whole limb, mirror hand (ulnar dimelia), polydactyly

• Polydactyly - Most frequently reported - Radial, central, or ulnar polydactyly - Central or ulnarpolydactyly : often autosomal dominant trait,

Treatment (Polydactyly)

• Remove by tying the base• Remove by surgical proccedure

Type IV - Overgrowth

• Macrodactyly, hemihypertrophy• Macrodactyly : - unknown etiology - 1 or multiple fingers - Radial fingers more common - Usually isolated abnormality, can occur with neurofibromatosis or Klippel- Trenaunay-Weber syndrome

Treatment (overgrowth)

• Diminish length and bulk without compromising sensation or vascularity (epiphysiodesis, debulking, partial amputation or ray amputation, etc)

Type V - Undergrowth

• Thumb hypoplasia, radial hypoplasia, brachysyndactyly, brachydactyly.

Type VI- Constriction band syndromes

• Simple constriction ring• Constriction ring with distal deformity

(lymphedema) • Contriction ring with distal soft tissue fusion• Intrauterine amputation

Treatment (Constriction Band Syndrome)

• Excision of the groove• Excision of functionless nubbins• Pollicization

The General Goal For Treatment of Upper-Extremity Congenital anomalies• Ability to orient hand in space• Sensate skin coverage• Grasping power• Precise handling of objects

Treatment : - Stretching - Splinting or casting - Physical therapy - Prosthetic - Surgery

TIMING OF SURGERY

• Early surgery : first 2 years of life - Advantages : full potential for growth and development , improved scarring, anatomic adaptation of the reconstructed part (eg, broadening of pollicized index finger), and reduced psychologic scarring - Disadvantages : technical difficulty & anesthetic risk

Most surgeons perform in the second year of life but no later than when the patient enters school.

AGE• INFANCY

• 6 MONTHS -1 YEAR

CONGENITAL HAND ANO.• Ulnar polydactyly Strang. Amniotic bands• Radial polydactyly Central polycactyly Border syndactyly Complex osseous synd. Radial longhitudinal def.

• AFTER 1 YEAR • Simple syndactyly• Ulnar longitudinal def.• Central longitudinal def.• Trigger thumb

The EndThe End