Introduction to Congenital Differences and Genetics


Saint-Hilaire (1832)

The limb as a whole

Ectromely

Hemimely

Phocomely

Fingers

Numerical

Decrease: ectrodactyly

Increase: polydactyly

Volume

Decrease: atrophy

Increase: hypertrophy




Table 2
(Kelikian, 1974, 55)










































Polaillon (1884)

Arrested development

Ectrodactyly

Total

Partial

Dactylosis

Amputations

Brachydactyly

Syndactyly

Excessive development

Polydactyly

Radial

Extra thumb

Bifid thumb

Ulnar

Well-formed extra finger

Pedunculated postminimus

Central

Mirror hand

Increased number of phalanges


In 1902, Nichols produced a more durable classification system from the American authors (Kelikian 1974). His classification system was modified over the years and republished in 1923 with new subdivisions of deficient and excessive development, subclassified into number and size of the affected part. This system was represented in 1965 by Ahstrom, in a more sophisticated form (Table 3) (Kelikian 1974).


Table 3
(Kelikian, 1974, 56)





































Ahstrom (1965)

Deficit deformities

Split hand

Axial defects

Amputations

Symbrachydactylism

Syndactylism

Annular grooves

Surplus deformities

Involving certain type of tissues only

Involving whole structures

Digits

Phalanges

Rays

Combination deformities (ulnar dimelia)

Dynamic deformities in which loss of function is the chief deficiency

In 1914, Potel identified longitudinal and transverse anomalies (Kelikian 1974; Manske and Oberg 2009). He described three subgroups of transverse deficiencies : (1) total or complete limb absence, (2) radicular or cases where one or more segments are missing between the hand and shoulder, and (3) terminal or absence of hand, fingers, or phalanges. Longitudinal defects were subclassified as (1) absence of the radius, (2) absence of the radius and corresponding part of the hand, (3) absence of the ulna, and (4) absence of the ulna and one or more corresponding fingers. Jones, in 1920, diagramed the axis of the hand passing through the third metacarpal and long finger (Kelikian 1974). Radial structures were termed preaxial and ulnar structures postaxial. Kanavel, in 1932, referred to hypoplasia and hyperplasia, rather than deficient or excessive development. He stated, “Congenital malformations of the hand are due to varying degrees of growth impairment having origin in germ plasm. Moderate growth impairment ends in tissue disorientation. Severe growth impairment ends in aplasia and hypoplasia” (Kelikian 1974, 61). The origin of hyperplasia was less discernible to him at that time. Cutler modified Kanavel’s classification in 1942, but his original classification system was republished by Paletta in 1953 (Kelikian 1974).

Other authors attempted to produce more simplified classification systems. Annandale, in 1866, divided congenital anomalies of the digits into six headings: (1) hypertrophy, (2) deficiencies, (3) supernumerary fingers, (4) union, (5) contractions, and (6) tumors (Kelikian 1974). This classification was repeatedly included in later writings by Blum (1882), Anderson (1897), and Tubby (1912), with only minor changes (Kelikian 1974). Browne, in 1933, produced a classification system for congenital anomalies in general and later modified this in 1939 to include (1) polydactyly, (2) webbed fingers, (3) hypertrophy, (4) atrophic changes, (5) molding deformities, and (6) acrocephalosyndactyly (Kelikian 1974).

German contributions in the congenital classification literature were made in the late nineteenth and early twentieth centuries. In 1895, Kummel described three categories of congenital anomalies : (1) defect malformation, (2) syndactyly, and (3) polydactyly (Manske and Oberg 2009). These categories were later modified by Nigst in 1927. Muller, in 1937, reported that malformations could present as a spectrum of varying degrees, or in varying stages of development (Buck-Gramcko and Ogino 1996; Manske and Oberg 2009). The “teratological progression” concept allowed anomalies to be graded by morphological severity and allowed anomalies to be grouped by appearance, simplifying the classification system (Buck-Gramcko and Ogino, 1996; Manske and Oberg 2009).

O’Rahilly, in his classification system of long-bone deficiencies, expanded upon intercalary deficiencies in 1951 (Kelikian 1974; Knight and Kay 2000). He referred to Jones’ preaxial and postaxial terminology but felt that hemimelia could be transverse or longitudinal (paraxial) (Kelikian 1974; Knight and Kay 2000). Longitudinal defects were divided into terminal and intercalary, with terminal longitudinal defects lacking the radius or ulna and all distal structures, while intercalary longitudinal defects might lack one of those intermediate structures (Knight and Kay 2000). He also described “coherence of normally adjacent structures” or synostosis, under fusion hemimelia (Kelikian 1974, 62).

Frantz and O’Rahilly, in 1961, created a widely accepted classification system based upon O’Rahilly’s earlier publication with two main groups, terminal and intercalary (Table 4) (Burtch 1966; Chung 2011; Frantz and O’Rahilly 1961; Kelikian 1974; Knight and Kay 2000). However, the terminology used by these authors was not accepted in Europe due to the use of terms such as hemimelia. Burtch revised this classification system in 1966 to eliminate the controversial terms and retained four of the main categories: terminal transverse, terminal longitudinal, intercalary transverse, and intercalary longitudinal defects (Burtch 1966; Knight and Kay 2000). The terminology was modified, and the concept of a central longitudinal deficiency, or cleft hand, was introduced (Burtch 1966; Knight and Kay 2000).


Table 4
(Kelikian, 1974, 63)


















































Frantz and O’Rahilly (1961)

Terminal

Transverse

Amelia (absence of limb)

Hemimelia (absence of forearm and hand)

Partial hemimelia (part of forearm is present)

Acheiria (absence of hand)

Complete adactylia (absence of all five digits and their metacarpals)

Complete aphalangia (absence of one or more phalanges from all five digits)

Longitudinal

Complete paraxial hemimelia (complete absence of one of the forearms and elements and corresponding portion of the hand)

Incomplete paraxial hemimelia (similar to above but part of defective element is present)

Partial adactylia (absence of one to four digits and their metacarpals)

Partial aphalangia (absence of one to four digits and their metacarpals)

Intercalary

Transverse

Complete phocomelia (hand attached directly to the trunk)

Proximal phocomelia (hand and forearm attached directly to the trunk)

Distal phocomelia (hand attached directly to the arm)

Longitudinal

Complete paraxial hemimelia (similar to corresponding terminal defect but hand is more or less complete)

Incomplete paraxial hemimelia (similar to corresponding terminal defect but hand is more or less complete)

Partial adactylia (absence of all or part of metacarpal)

Partial aphalangia (absence of proximal or middle phalanx or both from one or more digits)

O’Rahilly in 1969, and numerous other authors, realized that “Although the delineation of limb anomalies may be based … on clinical, functional, teratogenic, embryological or genetic criteria, the only satisfactory criterion of classification at the present time is anatomic” (Kelikian 1974, 67; O’Rahilly, 1969, 15). He also recommended that in each anatomic category, it should be identified whether the anomaly is isolated or part of a syndrome with other systems involved (Kelikian 1974; O’Rahilly 1969).



International Federation of Societies for Surgery of the Hand (IFSSH) Classification


Multiple classification systems resulted from these predecessors; however, none were universally adopted. These systems did not include all congenital anomalies, and terminology varied greatly between hand surgeons from Europe and the United States. Most hand surgeons adopted the classification system proposed by Swanson in 1964. This system was based on the assumption that anomalies should be grouped by the anatomic part of the limb affected during development. He created six basic categories in his initial system: failure of differentiation of parts, arrest of development, duplications, overgrowth, congenital circular constriction band syndrome, and generalized skeletal defects. His system introduced the concept of embryologic failure and allowed a large group of conditions to be included in the failure of differentiation group. Swanson’s classification system also provided a comprehensive but simple system, which classified both complex and simple diagnoses, using straightforward language (Chung 2011; Entin et al. 1972; Kelikian 1974; Knight and Kay 2000; Manske and Oberg 2009; Sammer and Chung 2009; Swanson 1976; Swanson et al. 1983).

This classification system was reviewed by the American Society for Surgery of the Hand (ASSH), the International Federation of Societies for Surgery of the Hand (IFSSH), and the International Society for Prosthetics and Orthotics (ISPO) and modified to include a seventh category, undergrowth. The resulting classification system was published in 1974 in the orthotics and prosthetics literature and as the inaugural issue of the American volume of the Journal of Hand Surgery in 1976 (Manske and Oberg 2009; Swanson 1976). This was subsequently referred to as the IFSSH classification system and included the seven major categories, with subcategories, subclassifications, and anatomic levels of anomalies and diagnoses (Table 5) (Knight and Kay 2000; Manske and Oberg 2009; Swanson 1976; Swanson et al. 1983).


Table 5
Swanson/International Federation of Societies for Surgery of the Hand (IFSSH) Classification (Swanson, 1976, 9)

















































































I. I.Failure of formation of parts (arrest of development)

 A. Transverse deficiencies

 B. Longitudinal deficiencies

  1. Phocomelia

  2. Radial

  3. Central

  4. Ulnar

II. I.Failure of differentiation (separation) of parts

 A. Synostosis

 B. Radial head dislocation

 C. Symphalangism

 D. Syndactyly

 E. Contracture

  1. Soft tissue

   a. Arthrogryposis

   b. Pterygium

   c. Trigger

   d. Absent extensor tendons

   e. Hypoplastic thumb

   f. Clasped thumb

   g. Retroflexible thumb

   h. Camptodactyly

   i. Windblown hand

  2. Skeletal

   a. Clinodactyly

   b. Kirner deformity

   c. Delta bone

III. Duplication

 A. Thumb

 B. Triphalangism/hyperphalangism

 C. Polydactyly

 D. Mirror hand

IV. I. Overgrowth (gigantism)

 A. Limb

 B. Macrodactyly

V. I. Undergrowth (hypoplasia)

VI. Congenital constriction band syndrome

VII. Generalized skeletal abnormalities

Authors who have found it difficult to classify complex cases, particularly with respect to cleft hand and symbrachydactyly, have criticized the IFSSH classification system. Knight and Kay published a more detailed version of the classification system in 2000, which attempted to include all congenital anomalies within the seven categories. The authors remarked that the IFSSH system was artificial and that a distinction between failure of formation and differentiation does not truly exist. They felt these two categories overlapped and represented a spectrum of deformity. In addition, the authors noted that complex deformities might have combinations of malformations, which do not belong to any one category. It is truly a morphological classification system without considering etiology (Buck-Gramcko and Ogino 1996; Chung 2011; De Smet et al. 1997; Knight and Kay 2000; Lamb 1990; Manske and Oberg 2009; Ogino et al. 1986; Sammer and Chung 2009).

The Japanese Society for Surgery of the Hand also published a modification of the IFSSH classification system, with the addition of two new categories: abnormal induction of rays and unclassifiable cases (Table 6) (Sammer and Chung 2009). This system attempted to include the concept of causation into the abnormal induction group as was recently suggested in experimental studies. This category included simple and complex syndactyly, central polydactyly-cleft hand-osseous syndactyly complex, and triphalangeal thumb. The authors had previously noted that typical cleft hand often involves absence of the central rays, polydactyly and syndactyly, which were classified under three different groups in the IFSSH system. Their new group attempted to include all components after embryologic studies supported the common etiology. However, the revised classification system was not universally accepted, as differences between abnormal induction and abnormal formation were not thought to be significant (Chung 2011; Manske and Oberg 2009; Naruse et al. 2007; Sammer and Chung 2009).


Table 6
Abbreviated Japanese Society for Surgery of the Hand modification (Sammer and Chung, 2009, 155)





































Main category

Example

I. Failure of formation

Symbrachydactyly

II. Failure of differentiation

Radioulnar synostosis

III. Duplication

Radial polydactyly, ulnar polydactyly, mirror hand

IV. Abnormal induction of digital rays

Cutaneous syndactyly, osseous syndactyly, central polydactyly, typical cleft hand

V. Overgrowth

Macrodactyly

VI. Undergrowth

Brachydactyly, clinodactyly

VII. Constriction band syndrome

Constriction band

VIII. Generalized skeletal

Achondroplasia

IX. Others
 


Influence of Developmental Biology and Genetics


As knowledge was gained in the field of Genetics , increasing information became available which gave insight into some of the mechanisms of congenital anomalies. This caused many authors to reexamine the current IFSSH classification system and attempt to apply it to this new knowledge. Tonkin, in 2006, recognized the problems that arose when attempting to classify deformities in a morphologically based system, given our increasing understanding of genetic causation (Manske and Oberg 2009; Tonkin 2006). This was clearly apparent when examining “typical cleft hand” and “atypical cleft hand.” Considering the JSSH recommendations regarding a new group, “abnormal induction of rays,” Tonkin recognized that syndactyly, central polydactyly, and clefting should be grouped together; however, the genetic etiology behind the phenotype was extremely varied with a complex pathway rather than one specific gene abnormality. Because of this complex interaction in hand development, he found that simply moving these diagnoses from one group to another within the IFSSH classification system in order to attempt to introduce some understanding of etiology would not suffice, and a major reassessment was needed. Alternatively, he proposed a new classification with a descriptive focus, which identified the location of deformity with an additional subclassification based upon the tissue involved and its specific features (Manske and Oberg 2009; Tonkin 2006). He suggested that a descriptive classification system could provide a “universal language” for discussion, which would not attempt to explain causation for the deformity (Table 7) (Tonkin 2006, 489 and 495).


Table 7
A practical description of upper limb anomalies (Tonkin, 2006, 495-6)











(I) Abnormalities of zeugopod (arm)

 (A) Hypoplasia/aplasia

  (1) Shoulder

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Nov 17, 2016 | Posted by in PEDIATRICS | Comments Off on Introduction to Congenital Differences and Genetics

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