Congenital Hand Anomalies dr. Muchtar, SpBP

Basic TermsCongenital: present at birth Does not denote etiologymay or may not be geneticGenetic: Determined by genesAnomaly: A structural defectMajor anomalies, minor anomalies, normal variants

Basic TermsMalformation: A primary structural defect in tissue formationAbnormal development (morphogenesis) of tissues due to genetic or teratogenic causesDeformation: result of abnormal mechanical forces acting on normally developed tissueDisruption: represents an interruption of development of otherwise normal tissue.

Basic TermsSequence (ms, ds, ds): A pattern of multiple anomalies derived from a single known or presumed causeie Potter Sequence (Renal & Lung), Pierre-Robin Sequence Association: a nonrandom occurrence of multiple malformations for which no specific or common etiology has been foundie VATERL Association Syndrome: a recognized pattern of anomalies with a single, specific causeie Holt-Oram Syndrome (mutation on Chromosome 12q) , Down Syndrome (trisomy 21)

Epidemiology / EtiologyMajor anomalies evident at birth occur in approx. 2% of live births. Some major anomalies present later in life of all aborted fetuses prior to 20 wks gest. have a chromosomal anomaly (esp. Turners and trisomies)66% of major anomalies have no known etiologyMinor anomalies present in 20% of infants with major anomaliesMay contribute to a recognizable pattern which may aid in diagnostic impressionMost frequent in the face, distal extremities

Phenotypic Variants:Helpful to look at parents, racial/ethnic backgroundMongolian spotsCommon in hispanics, blacks, but only 2% of whitesMacrocephalyCan be a sign of hydrocephalusCan be familial measure the parents head sizes

Etiology of AnomalliesMultifactorialMendelian InheritanceChromosomalTeratogenic

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 ChromosomalMendelianResponsible for causing 0.4% of newborns to have major malformationsMostly autosomal dominant traitsChromosomalRepresent 0.2% of all newborns with major malformations10% of infants with major malformations have chromosomal disorders

Teratogenic ForcesDrugs, chemical exposures, maternal infection, maternal metabolic state (ie diabetes), mechanical forcesExposure usually most significant during 1st 2-12 weeks

Congenital Hand deformationInsidens : 1 : 626 (Conway, 1956, New York). Others : 0,7%

Clinical significance6% births have anomaly

Infant deaths related to congenital anomaly in 20%

Limb deficiency in 3-8 per 1000 births

Embryology Upper Extremity4 8 weeksThree 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) 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 formationTransvere arrest : shoulder to phalanxLongitudinal 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 arrestAmeliaTransverse arrest at forearm levelTransverse arrest at the carpal, metacarpal, and phalangeal level

2. Longitudinal arresta. 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

ClassificationA, Type Ishort distal radius. B, Type IIhypoplastic radius. C, Type IIIpartial absence of radius. D, Type IVtotal 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 :Soft tissue release Centralization of the carpus Pollicization of the index finger Tendon transfers and arthrodesis of the wrist

b. Central Longitudinal arrestThe typical cleft handVarying degree of long ray absensene : most commonly the phalanges are missing, & metacarpals are present.Often bilateralUsually inheritedAssociated with cleft lip & palate

b. Central Longitudinal arrestThe typical Cleft handThree 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 infants finger also missing the adjacent index and/or ring finger

b. Central Longitudinal arrestThe Atypical Cleft Hand (lobster hand)Index, long & ring fingers are absent, metacarpals are presentA form of SymbrachydactylyNot associated with systemic conditionsNot inheritedUsually unilateral, & sporadic

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

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.

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

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 - Billateral 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

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,

Type IV - OvergrowthMacrodactyly, hemihypertrophyMacrodactyly : - unknown etiology - 1 or multiple fingers - Radial fingers more common - Usually isolated abnormality, can occur with neurofibromatosis or Klippel- Trenaunay-Weber syndrome

Type V - UndergrowthThumb hypoplasia, radial hypoplasia, brachysyndactyly, brachydactyly.

Type VI- Constriction band syndromesSimple constriction ringConstriction ring with distal deformity (lymphedema) Contriction ring with distal soft tissue fusionIntrauterine amputation

The Goal For TreatmentAbility to orient hand in spaceSensate skin coverageGrasping powerPrecise 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 the patient enters school.

AGEINFANCY

6 MONTHS -1 YEAR

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

AFTER 1 YEARSimple syndactylyUlnar longitudinal def.Central longitudinal def.Trigger thumb

The End

**Lobster claw- middle digit absent*