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Nomenclature for Congenital Skeletal Deficiencies, a Revision of the Frantz and O'Rahilly Classification1

Report of the Consultants to the Subcommittee on Child Prosthetics Problems of the Committee on Prosthetics Research and Development: Cameron B. Hall, M.D., Los Angeles, Calif. Claude N. Lambert, M.D., Chicago, Ill. Ronan O'Rahilly, M.D., St. Louis, Mo. Chester A. Swinyard, M.D., Ph.D., New York, N.Y. Prepared by Robert L. Burtch, M.A.,2 Research Scientist, Prosthetic and Orthotic Studies, New York University Post-Graduate Medical School, under the supervision of Sidney Fishman, Ph.D., Project Director, and Hector W. Kay, M.Ed.,3 Associate Project Director, Prosthetic and Orthotic Studies, New York University Post- Graduate Medical School.

cent) were classifiable within the framework of At the request of the Subcommittee on the Frantz-O'Rahilly system. Child Prosthetics Problems of the Committee In the light of these generally favorable re• on Prosthetics Research and Development, sults, the Subcommittee on Child Prosthetics Child Prosthetic Studies, New York Univer• Problems appointed a group of consultants sity, initiated a study of congenital skeletal (Drs. Cameron B. Hall, Claude N. Lambert, limb deficiencies during March 1963 (2). The Ronan O'Rahilly, and Chester A. Swinyard) to primary purpose of this initial effort was to consider possible ways and means by which the determine the adequacy of the classification Frantz-O'Rahilly plan might be modified to nomenclature for congenital skeletal limb de• provide an even more comprehensive system ficiencies proposed by Drs. Charles H. Frantz for classifying limb deficiencies. and Ronan O'Rahilly (4) and of a description- In the course of several joint meetings of the classification form developed by NYU Child consultants and the NYU staff, a revised Prosthetic Studies. The results of the evalua• system was developed. The revised system tion (2) indicated that 471 of 577 limbs (85 per generally follows the basic principles proposed 1 This study was conducted under a special grant by Drs. Frantz and O'Rahilly, in that: first, it from the Children's Bureau, Department of Health, is based on a description of absent skeletal Education, and Welfare. parts; second, deficiencies are classified under 2 Since September 1, 1965, Mr. Burtch has been the two basic headings, Terminal and Inter• serving as Coordinator of the Physical Medicine and calary, with subgroups of Transverse and Rehabilitation Service, Maimonides Hospital—Coney Longitudinal under each of these headings. Island Division, Ocean and Shore Parkways, Brooklyn, However, the use of anatomical terms has been N.Y. 11235. extended significantly and is included in the 3 Since April 1, 1965, Mr. Kay has been serving as classification of all deficiencies. Thus the use Assistant Executive Director, Committee on Prosthetics Research and Development, National Academy of of such clinical descriptive terms as , Sciences—National Research Council, 2101 Constitu• peromelia, , , , tion Ave., N.W., Washington, D. C. 20418. etc., has been eliminated. Only two basic de- 24 25 scriptive terms are now proposed: , or Longitudinal Absence extending parallel with the complete absence of a free limb, and meromelia, long axis of the limb (forearm and/or hand, or leg and/or foot), or partial absence of a free limb. The latter either pre-axial, postaxial, or (as term is a derivative of the Greek meros (part or in the hand or foot) central in partial) and melos (limb). nature. The use of the revised nomenclature adheres Pre-axial Absence of the portion of the fore• and/or hand, or leg and/or to procedures set forth in the Standard Nomen• foot on the thumb or the great-toe clature of Diseases and Operations (7). The side of the limb (radial or tibial classification of a given deficiency, therefore, portion). proceeds from the general to the specific, citing Postaxial Absence of the portion of the fore• absent skeletal elements for definitive identifi• arm and/or hand, or leg and/or foot on the side of the limb oppo• cation. For example, Meromelia: Terminal site the thumb or the great toe Longitudinal; Metacarpal: I, II, III describes (ulnar or fibular portion). a terminal longitudinal deficiency of the hand Central Absence of one or more of the inter• involving absence of digital rays I, II, and III. mediate digital rays (for example, To provide a basis for possible international Ray III). Rudimentary A remnant of an osseous element. consideration, the anatomical terminology If the remnant is identifiable (for utilized in this system is consistent with example, the humerus), the term Nomina Anatomica (3). "rudimentary humerus" would be Since x-rays and the resulting classification applicable. If the remnant cannot be identified, the symbol "X" (un• may be expected to change depending on the known) would be cited (for exam• degree of maturation (for example, tarsals and ple, "rudimentary X"). carpals), cases where ossification is continuing Ray A digit. must be reclassified periodically. The material related to the revised classifica• SYMBOLS tion system is presented in five parts: I Intercalary. ? Questionable T Terminal. identity of ele• I. A definition of the terms and symbols employed. — Transverse. ment cited (for II. Two charts (II. a. and II. b.) adapted from ar• / Longitudinal example, radius ticles by Dr. Hall et al. (5) and Dr. O'Rahilly (6) to facilitate understanding of the basic ?)■ Pre- Pre-axial. X Unknown (uni• principles involved. Post Postaxial. dentifiable) . III. A detailed, illustrated description of the classifica• :I, II, III, Digital ray(s) tion plan. IV, or V involved, start• IV. A description-classification form used for recording ing from pre- purposes. axial to V. Instructions for use of the description-classifica• postaxial side tion form. of limb. I. TERMS AND SYMBOLS SKELETAL ELEMENTS TERMS Capital letters are used to identify skeletal Amelia Complete absence of a free limb (ex• clusive of girdle). elements that are completely absent; small Meromelia Partial absence of a free limb (exclu• (lower case) letters are used to identify skeletal sive of girdle). elements that are partially absent. If the word Terminal Absence of all skeletal elements distal identifying the skeletal element is written out, Deficiency to the proximal limit of the defi• the first letter of the word is capitalized when ciency, along the designated axis (longitudinal or transverse). the element is completely absent (for example, Intercalary Absence of middle part(s) lying be- Humeral), and in lower case when only par• Deficiency tween a proximal-distal series of tially absent (for example, humeral). limb components; elements proxi• mal to and distal to the absent HU or hu Humeral. TI or ti Tibial. part(s) are present. U or u Ulnar. FI or fi Fibular. Transverse Absence extending across the width R or r Radial. TA or ta Tarsal. of the limb. CA or ca Carpal. MT or mt Metatarsal. 26

MC or mc Metacarpal. PP or pp Phalanx Intercalary Transverse (I—) Deficiencies and Proximal. Longitudinal (I/) Deficiencies PH or ph Phalangeal. PM or pm Phalanx Middle. P absence of all or part of the proximal third of the FE or fe Femoral. PD or pd Phalanx skeletal element cited. Distal. M absence of all or part of the middle third of the skeletal element cited. Skeletal Segments D absence of all or part of the distal third of the skeletal element cited. P Proximal third of element cited. M Middle third of element cited. D Distal third of element cited. II. a. BASIC SCHEMA FOR CLASSIFICATION OF CONGENITAL SKELETAL LIMB DEFICIENCIES The symbols P, M, and D are used to indi• cate thirds of the skeletal elements cited, which Figure 1 presents a basic schema for the may be completely or partially absent. Utiliza• classification of congenital skeletal limb de• tion of the three symbols requires the following ficiencies which has been adapted from one clarification: originally presented by Dr. Cameron B. Hall et al. (5). Terminal Transverse (T-) Deficiencies P absence of part of the proximal third of the II. b. BASIC SCHEMA FOR CLASSIFICATION OF skeletal element cited and everything distal to it. CONGENITAL SKELETAL LIMB DEFICIENCIES M absence of all or part of the middle third of the skeletal element cited and everything distal to it. Figure 2 presents a basic schema for the D absence of all or part of the distal third of the classification of congenital skeletal limb de• skeletal element cited and everything distal to it. ficiencies which has been adapted from one Terminal Longitudinal (T/) Deficiencies originally presented by Dr. Ronan O'Rahilly (6). P absence of part of the proximal third of the skeletal element cited and everything distal to it parallel with the same axis. III. CLASSIFICATION NOMENCLATURE M absence of all or part of the middle third of the skeletal element cited and everything distal A. Terminal Transverse (T—) Deficiencies (Figs. 3 to it parallel with the same axis. and 4) D absence of all or part of the distal third of the Amelia—complete absence of a free limb (exclusive skeletal element cited and everything distal to of girdle). it parallel with the same axis. (For example, Amelia: T—; Upper Right.)

Fig. 1. Basic schema adapted from Dr. Cameron B. Hall et al. (5). 27

Fig. 2. Basic schema adapted from Dr. Ronan O'Rahilly (6). The term "meromelia," denoting partial absence of a free limb, is applicable to all examples in the schema with the exception of the transverse deficiency of the complete limb which has been denoted as "amelia."

Meromelia—partial absence of a free limb (exclu• 6. Metacarpal or Metatarsal sive of girdle). a. Absence of all metacarpals or metatarsals and 1. Humeral or Femoral (P, M, or D) all hand or foot elements distal to this level. Partial absence of the humerus or femur and all (For example, Meromelia: T—; Metatarsal distal elements. (tarsal-metatarsal-type stump).) (For example, Meromelia: T—; humeral D (dis• b. Absence of a portion of metacarpals or meta• tal third above-elbow-type stump).) tarsals and all hand or foot elements distal to 2. Radio-Ulnar or Tibio-Fibular this level. Use P, M, or D to indicate absent a. Complete absence of the Radius and Ulna or segment(s) of each metacarpal or metatarsal. Tibia and Fibula, and all distal elements. (For example, Meromelia: T—; metacarpal: (For example, Meromelia: T—; Radio-Ulnar I D, II D, III D, IV M, V M (trans-meta- (elbow-disarticulation-type stump).) carpal-type stump).) b. Partial absence of the radius and ulna or tibia 7. Phalangeal and fibula, and all distal elements. Use P, M, a. Absence of all phalanges from all five digits. or D, as appropriate. (For example, Meromelia: T—; Phalangeal, (For example, Meromelia: T—; radio-ulnar M Upper Right (metacarpo-phalangeal-type (short below-elbow-type stump).) stump).) c. Complete absence of one of the forearm or leg b. Complete or partial absence of one or more elements, and all distal elements. phalanges from all five digits (but not all (For example, Meromelia: T—; Radius phalanges from all five digits). (wrist-disarticulation-type stump).) (For example, Meromelia: T—; phalangeal, 3. Carpal or Tarsal Upper Right: I, II; III PM, IV PM, D; V Complete absence of all hand or foot elements. PD (trans-phalangeal-type stump).) (For example, Meromelia: T—; Tarsal (ankle- B. Terminal Longitudinal (T/) Deficiencies (Fig. 5) disarticulation-type stump).) 1. Major Long Bones 4. Carpal or Tarsal, Distal a. Complete absence of one of the forearm or leg Absence of the distal row of carpals or tarsals, elements and of the corresponding portion of and all other hand or foot elements distal to this the hand or foot. The skeleto-anatomical terms level. Radial (R), Ulnar (U), Tibial (TI), or Fibular (For example, Meromelia: T—; carpal, Distal (FI) are used to indicate the absent long bone. (mid-carpal-type stump).) In order to provide greater precision, the 5. Carpal or tarsal, Pre- or Postaxial identifying number of each absent ray is in• Absence of either the pre- or postaxial carpal or cluded in the nomenclature. tarsal bones, and all other hand or foot elements. (For example, Meromelia: T/; Radial: I, II.) (For example, Meromelia: T—; carpal, Pre-axial If all but one unidentifiable ray or rudimen- (carpal-metacarpal-type stump).) 28

Fig. 3. Terminal transverse (T—) deficiencies. The shaded areas in the example sketches represent absent elements or parts thereof.

tary ray is absent, the symbol "X" (unknown) (For example, Meromelia: T/; carpal, Pre-axial: or term "rudimentary X" is used. I, II.) b. Partial absence of one of the forearm or leg 3. Metacarpal or metatarsal (P, M, or D) elements and absence of the corresponding a. Absence of all phalanges of one to four digits portion of the hand or foot. P, M, or D is and complete or partial absence of their re• used to indicate the absent segment (s) of the spective metacarpals or metatarsals. long bone. Lower case letters are used, and (For example, Meromelia: T/; metacarpal: the absent ray(s) is cited. I, II, III, V.) (For example, Meromelia: T/; fibular M: IV, b. In the case of partial absence of a specific V.) metacarpal or metatarsal, P, M, or D is used 2. Carpal or tarsal, Pre- or Postaxial to indicate the absent segment (s). Absence of either the pre- or postaxial carpal or (For example, Meromelia: T/; metatarsal: I, tarsal bones, and corresponding digital rays. II; III D; V M.) 29

Fig. 4. Terminal transverse (T—) deficiencies (continued). The shaded areas in the example sketches represent absent elements or parts thereof.

4. Phalangeal 1. Major Long Bones Absence of all or part of one or more phalanges a. Humeral, Radio-Ulnar; or Femoral, Tibio- from one to four digits. Fibular (For example, Meromelia: T/; phalangeal, Upper Complete absence of all three major long bones Right: I, II, III.) in the limb with hand or foot elements at• C. Intercalary Transverse (I—) Deficiencies (Figs. 6 tached directly to the trunk. and 7) (For example, Meromelia: I—; Humeral, A minimum of at least two digital rays (two meta• Radio-Ulnar.) carpals or metatarsals and their associated pha• a'. Concomitant hand or foot deficiencies are langes) must be present to permit classification as classified independently of the major long bone an Intercalary Transverse (I—) deficiency of the deficit. major long bones. In such cases, the hand or foot (For example, Meromelia: I—; Humeral, deficiencies (if any) are classified separately. Where Radio-Ulnar; plus T/; metacarpal: I, II, V.) there are fewer than two complete digital rays, the b. Humeral or Femoral deficiency is classified as Terminal Transverse (T—), Complete or partial absence of the long bone with a description of the distal digital elements that cited. are absent (for example, "all but one ray absent"). (For example, Meromelia: I—; Humeral.) 30

Fig. 5. Terminal longitudinal (T/) deficiencies. The shaded areas in the example sketches represent absent elements or parts thereof.

b'. If a partial absence exists, P, M, or D is d. Humeral, radio-ulnar; or femoral, tibio-fibular added to indicate the absent segment (s) of the Partial absence of all three major long bones in bone cited. the upper or lower limb. P, M, or D is used to (For example, Meromelia: I—; humeral M, indicate the absent segment (s) of each long D.) bone. c. Radio-Ulnar or Tibio-Fibular (For example, Meromelia: I—; humeral D; Complete or partial absence of the long bone radio-ulnar M, D.) cited. 2. Carpal or Tarsal (For example, Meromelia: I—; Radio-Ulnar.) c'. If a partial absence exists, P, M, or D is used Complete absence of the carpal or tarsal bones, to indicate the absent segment (s) of each bone. with proximal and distal skeletal elements (For example, Meromelia: I—; tibio-fibular present. P, M.) (For example, Meromelia: I—; Carpal.) 31

Fig. 6. Intercalary transverse (I—) deficiencies. The shaded areas in the example sketches represent absent elements or parts thereof.

3. Metacarpal or Metatarsal U) or leg (TI or FI) elements with hand or Complete absence of the metacarpals or meta• foot elements intact along the same axis as the tarsals, with proximal and distal skeletal elements deficient long bone. present. (For example, Meromelia: I/; Fibular.) (For example, Meromelia: I—; Metacarpal.) b. Similar to above except that only part of the 4. Phalangeal long bone cited is absent. P, M, or D is used Absence of all or part of the proximal and/or to indicate the absent segment (s). middle phalanx from all five digits. (For example, Meromelia: I/; radial P, M.) (For example, Meromelia: I—; phalangeal, Lower Right: I PP; II PP; III PM; IV PM; V 2. Carpal or tarsal, Pre- or Postaxial PP.) Absence of either the pre- or postaxial carpal or D. Intercalary Longitudinal (I/) Deficiencies (Fig. 8) tarsal bones with all other hand or foot elements 1. Major Long Bones present. a. Complete absence of one of the forearm (R or (For example, Meromelia: I/; tarsal, Pre-axial.) 32

Fig. 7. Intercalary transverse (I—) deficiencies (continued). The shaded areas in the ex• ample sketches represent absent elements or parts thereof.

3. Metacarpal or metatarsal IV. DESCRIPTION-CLASSIFICATION FORM Absence of all or part of one to four metacarpals Figure 9 presents the description-classifica• or metatarsals. tion form developed by NYU Child Prosthetic (For example, Meromelia: I/; metatarsal: I, II.) Studies for recording congenital skeletal limb If only part of a metacarpal or metatarsal is deficiencies. absent, P, M, or D is used to indicate the absent segment(s) of the involved ray. V. CLASSIFICATION OF CONGENITAL SKELETAL (For example, Meromelia: I/; metatarsal: I D; LIMB DEFICIENCIES II M, D.) The following instructions were developed 4. Phalangeal by NYU Child Prosthetic Studies to ac• Absence of all or part of the proximal and/or company the description-classification form: middle phalanx of from one to four digits. (For example, Meromelia: I/; phalangeal, Upper 1. Fill in the identification items at the top of the Left: I PP; II PM; IV PP.) page. 33

Fig. 8. Intercalary longitudinal (I/) deficiencies. The shaded areas in the example sketches repre• sent absent elements or parts thereof.

2. Indicate in the space provided the presence or tion for prosthetic purposes (for example, short above- history of congenital visceral, soft-tissue or skeletal elbow, short below-elbow, long above-, etc.) in the anomalies other than those of the limbs; that is, cardiac, space provided. Consult Upper and Lower Extremity pulmonary, gastrointestinal (esophageal and/or duo• Manual(s) for functional amputation levels. denal atresia, imperforated anus, etc.); genito-urinary, 5. Indicate next to the appropriate skeletal part on for example, cryptorchidism; cleft palate, hare lip, con• the diagram any of the following conditions that exist. genital and/or structural , , etc. Also, include any unlisted conditions present, as well as 3. Using a black pencil or pen, shade in all absent any additional information that will enhance the com• skeletal elements or parts of elements. If an anomaly pleteness of the description. has been converted to an amputation, describe and Contracture classify the original anomaly. Care should be taken to Hypoplasia Pseudoarthrosis retain the approximate length and girth proportions Bifurcation when shading in partial elements. Using a red pencil Valgus Dislocation or pen, also indicate on the appropriate limb the ap• Varus Subluxation proximate site and date of the surgical conversion (s). Syndactylism Supernumerary digit (s) 4. In cases where prosthetic restoration is appropri• Torsion Soft-tissue nubbin(s) ate, indicate the analogous functional level of amputa• 6. After completing the description of each affected Fig. 9. Description-classification form for recording congenital skeletal limb deficiencies. 34 35 limb, insert in the appropriate space the appropriate 4. Frantz, C. H., and Ronan O'Rahilly, Congenital classification nomenclature. skeletal limb deficiencies, J. Bone & Joint Surg., Boston, 43A:1202-1224, December 1961. LITERATURE CITED 5. Hall, C. B., M. B. Brooks, and J. F. Dennis, Con• 1. Burtch, Robert L., A study of congenital skeletal limb genital skeletal deficiencies of the extremities, deficiencies, Inter-Clinic Information Bulletin, J.A.M.A., Chicago, 181:590-599, August 1962. May 1963, pp. 1-6. 6. O'Rahilly, Ronan, Morphological patterns in limb 2. Burtch, Robert L., The classification of congenital deficiencies and duplications, Am. J. Anat., Phila• limb deficiencies: A preliminary report, Inter-Clinic Information Bulletin, October 1963, pp. 4-9. delphia, 89:155-187, September 1951. 3. Excerpta Medica Foundation (Amsterdam, London, 7. Thompson, Edward T., ed., Standard nomenclature Milan, New York), Nomina anatomica, 2nd ed., of diseases and operations, McGraw-Hill, New 1961. York, 1961.