July 1975
162
The Journal o f P E D I A T R I C S
Classification, nomenclature, and naming of morphologic defects THE GROWTH OF KNOWLEDGE in a particular field often requires a reassessment of definitions, classification, and nomenclature. A meeting was held on February 10 and 11, 1975, at the National Institutes of Health in Bethesda, Maryland, to discuss further the tentative suggestions for classification, nomenclature, and naming of malformations published in Lancet, April 27, 1974. The meeting was initiated by Dr. Richard L. Christiansen and attended by the planning consultants: Dr. David W. Smith (Seattle), chairman; Dr. Murray Feingold (Boston); Dr. Robert G. Gorlin (Minneapolis); and Dr. David E. Poswillo (London); and the following participants: Dr. Dagfinn Aarskog (Bergen, Norway); Dr. Daniel Bergsma (White Plains, N. Y.); Dr. M. Michael Cohen, Jr. (Seattle); Dr. Peter Dunn (Bristol, England); Dr. David Erickson (Atlanta); Dr. Pierre E. Ferrier (Geneva); Dr. F. Clarke Fraser (Montreal); Dr. Richard Goodman (TelHashomer, Israel); Dr. R. B. Lowry (Vancouver, Canada); Dr. Victor A. McKusick (Baltimore); Dr. Carol Newton (Los Angeles); Dr. John M. Opitz (Madison, Wis.); Dr. Eberhard Passarge (Hamburg, Germany); Dr. Robert R. Sokal (Stony Brook, N. Y.); Dr. Ray E. Stewart (Los Angeles.) The objectives were to suggest a flexible, practical, yet scientific nomenclature which could be used by clinicians as the basis of a universal classification; a classification which may be incorporated with the International Classification of Disease of the WHO skeleton classification, yet capable of expansion to meet the needs of the scientist in birth defects. By agreeing on a specific nomenclature and by establishing the basis for a classification, it was hoped to improve identification of malformation, data storage, and retrieval of information for use by epidemiologists, therapists, and workers in the field of fundamental research on morphogenesis (see box, p. 163). It was hoped that in the future attention will be given to nomenclature for less common patterns of malformation, and for single anomalies. Interest was shown in the possibilities of the application of new methods in taxonomy for the analysis of birth defects. Comments concerning these guidelines should be directed to Dr.
VoL 87, No. 1, pp. 162-164
Single Local ized Anomaly in Morphogenesis
Secondary Defects
Anomalad
Tertiary Defects Fig. 1.
Richard L. Christiansen, Chief, Craniofacial Anomalies Program, National institute of Dental Research, Westwood Building, Room 520, Bethesda, Maryland 20014, U.S.A. COMMENTS ANOMALAD
ON THE WORD
Since there is a report in this issue on the Robin anomalad, it is fitting to further elaborate the meaning
and concept embodied in this new word, which was suggested by Dr. F. Clarke Fraser of Montreal. The See related article, p. 30.
concept is illustrated in Fig. 1. Numerous examples of such anomalads are set forth in the first chapter of the book by Smith. 1 The word anomalad was devised to denote a pattern of morphologic defects which stem from a single localized structural anomaly which resulted in a cascade of consequent defects. The ending ad is meant to imply more than one defect, as in diad or triad. Thus anomalad connotes the initiating anomaly and its derived secondary defects. Several additional comments are merited regarding the concept embodied in the word anomalad: 1. The word anomalad should ideally project one's
Volume 87 Number 1
Editor's column
Recommended nomenclature and classification I. Nomenclature (suggested definitions) A. Malformation-a primary structural defect that results from a localized error of morphogenesis, e.g., cleft lip B. Deformation-an alteration in shape and/or structure of a previously normally formed part, e.g., torticollis C. Anomalad--a malformation together with its subsequently derived structural changes, e.g., Robin anomalad D. Malformation syndrome-a recognized pattern of malformation presumably having the same etiology and currently not interpreted as the consequence of a single localized error in morphogenesis, e.g., Down syndrome E. Association--a recognized pattern of malformations which currently is not considered to constitute a syndrome or an anomalad; as knowledge advances, an association may be reclassified as a syndrome or as an anomalad, e.g., hemihypertrophy with Wilms tumor II. Proposal for classification of multiple malformation disorders A. Syndromes 1. Known etiology a. Chromosome abnormality b. Gene abnormality (i) Known biochemical defect (ii) No known biochemical defect c. Environmental factor 2. Etiology not established B. Anomalads C. Associations D. Combination of malformations, not assigned to any of the above categories III. Proposal for naming single malformations: Utilize adjective or descriptive term and the name of the structure or the classical equivalent in common use; e.g., small mandible or micrognathia IV. Proposals for naming patterns of malformations A. When the etiology is known and easily remembered, utilize the appropriate term to designate the disorder; e.g., trisomy 18 syndrome B. Continue time-honored designations unless there is good reason for change C. In the absence of a reasonably descriptive designation, eponyms, some of them multiple, may be used until the basic defect for the disorder is recognized; however, usage of an eponym should in the future be limited to one proper name D. The possessive use of an-eponym should.be discontinued since the author neither had nor owned the disorder, e.g., Down syndrome E. Designation of a disorder by one or more of its manifestations does not necessarily imply that they are either specific or consistent components of that disorder F. Avoid names which may have an unpleasant connotation for the family and/or affected individual G. The syndrome should not be designated by the initials of the originally described patients H. Names which are too general for a specific syndrome should be avoided I. Avoid acronyms unless extremely pertinent or appropriate. Considerable discussion centered on names for many o f the more common patterns of malformations. Although there was often unanimity in the choice of a name it was not always possible to obtain agreement by strict observance of the above guidelines because of preference for time-honored designations. The group generally expressed the hope that the guidelines would be observed in future naming of patterns ' of malformation and that consideration be given to the incorporation of these proposals in the next revision of the International Classification of Disease. V. Examples of recommended names A. Syndromes 1. Known etiology a. Chromosome abnormality (subclassified by karyotype)--trisomy 21 or Down syndrome, trisomy 18 syndrome, trisomy 13 syndrome, Turner syndrome, Klinefelter syndrome b. Gene abnormality neurofibromatosis, tuberous sclerosis c. Environmental factor--congenital rubella syndrome, congenital alcohol syndrome 2. Etiology not established-deLange or Cornelia deLange syndrome, Russell-Silver syndrome, Noonan syndrome, Beckwith-Wiedemann syndrome, Williams syndrome (for the hypercalcemia, peculiar facies, supravalvular aortic stenosis syndrome), Prader-Willi syndrome B. Anomalads-abdominal muscle deficiency anomalad, holoprosencephaly anomalad, Robin anomalad
163
1 64
Editor's column
thoughts back toward the presumed single initiating morphologic defect and to the cascade of developmental pathology which it triggered. 2. Anomalad does not connote a particular mode of etiology since the cause for the initiating structural defect may be heterogeneous. 3. An anomalad may occur in an otherwise normal individual or it may be one of multiple anomalies a n d / o r anomalads in the same individual. In the latter instance the question is: "What is the total diagnosis? Does the patient have a recognized syndrome?" For example, the Robin anomalad may occur in an otherwise normal individual, in which case the prognosis is usually good if the individual survives the early period of upper airway obstruction, However, as emphasized by Hanson and
The Journal of Pediatrics July 1975
Smith, about one-fourth of patients with the Robin anomalad have this as one feature in a multiple defect syndrome, in which case the prognosis, management, and counsel should be based on knowledge derived about that particular syndrome. 4. As the severity of the initial morphologic anomaly may vary, so the range of severity and extent of the consequent anomalad may be variable.
David W. Smith, M.D. Department of Pediatrics University of Washington Seattle, Wash, 98105 REFERENCE h Smith DW: Recognizable patterns of human malformation, Philadelphia, 1970, WB Saunders Company, pp 2-16.
Erratum. In the May, 1975, issue Of THE JOURNALOF PEDIATRICS(86:707, 1975), in the article "Hyperglycinemia and propionyl CoA carboxylase deficiency and episodic severe illness without consistent ketosis," by William B. Wadlington, Anthony Kilroy, Toshiyuki Ando, Lawrence Sweetman, and William L. Nyhan, the serum level of propionic acid in Table III should read 0.0264 pmoles/ml.
162
The Journal o f P E D I A T R I C S
Classification, nomenclature, and naming of morphologic defects THE GROWTH OF KNOWLEDGE in a particular field often requires a reassessment of definitions, classification, and nomenclature. A meeting was held on February 10 and 11, 1975, at the National Institutes of Health in Bethesda, Maryland, to discuss further the tentative suggestions for classification, nomenclature, and naming of malformations published in Lancet, April 27, 1974. The meeting was initiated by Dr. Richard L. Christiansen and attended by the planning consultants: Dr. David W. Smith (Seattle), chairman; Dr. Murray Feingold (Boston); Dr. Robert G. Gorlin (Minneapolis); and Dr. David E. Poswillo (London); and the following participants: Dr. Dagfinn Aarskog (Bergen, Norway); Dr. Daniel Bergsma (White Plains, N. Y.); Dr. M. Michael Cohen, Jr. (Seattle); Dr. Peter Dunn (Bristol, England); Dr. David Erickson (Atlanta); Dr. Pierre E. Ferrier (Geneva); Dr. F. Clarke Fraser (Montreal); Dr. Richard Goodman (TelHashomer, Israel); Dr. R. B. Lowry (Vancouver, Canada); Dr. Victor A. McKusick (Baltimore); Dr. Carol Newton (Los Angeles); Dr. John M. Opitz (Madison, Wis.); Dr. Eberhard Passarge (Hamburg, Germany); Dr. Robert R. Sokal (Stony Brook, N. Y.); Dr. Ray E. Stewart (Los Angeles.) The objectives were to suggest a flexible, practical, yet scientific nomenclature which could be used by clinicians as the basis of a universal classification; a classification which may be incorporated with the International Classification of Disease of the WHO skeleton classification, yet capable of expansion to meet the needs of the scientist in birth defects. By agreeing on a specific nomenclature and by establishing the basis for a classification, it was hoped to improve identification of malformation, data storage, and retrieval of information for use by epidemiologists, therapists, and workers in the field of fundamental research on morphogenesis (see box, p. 163). It was hoped that in the future attention will be given to nomenclature for less common patterns of malformation, and for single anomalies. Interest was shown in the possibilities of the application of new methods in taxonomy for the analysis of birth defects. Comments concerning these guidelines should be directed to Dr.
VoL 87, No. 1, pp. 162-164
Single Local ized Anomaly in Morphogenesis
Secondary Defects
Anomalad
Tertiary Defects Fig. 1.
Richard L. Christiansen, Chief, Craniofacial Anomalies Program, National institute of Dental Research, Westwood Building, Room 520, Bethesda, Maryland 20014, U.S.A. COMMENTS ANOMALAD
ON THE WORD
Since there is a report in this issue on the Robin anomalad, it is fitting to further elaborate the meaning
and concept embodied in this new word, which was suggested by Dr. F. Clarke Fraser of Montreal. The See related article, p. 30.
concept is illustrated in Fig. 1. Numerous examples of such anomalads are set forth in the first chapter of the book by Smith. 1 The word anomalad was devised to denote a pattern of morphologic defects which stem from a single localized structural anomaly which resulted in a cascade of consequent defects. The ending ad is meant to imply more than one defect, as in diad or triad. Thus anomalad connotes the initiating anomaly and its derived secondary defects. Several additional comments are merited regarding the concept embodied in the word anomalad: 1. The word anomalad should ideally project one's
Volume 87 Number 1
Editor's column
Recommended nomenclature and classification I. Nomenclature (suggested definitions) A. Malformation-a primary structural defect that results from a localized error of morphogenesis, e.g., cleft lip B. Deformation-an alteration in shape and/or structure of a previously normally formed part, e.g., torticollis C. Anomalad--a malformation together with its subsequently derived structural changes, e.g., Robin anomalad D. Malformation syndrome-a recognized pattern of malformation presumably having the same etiology and currently not interpreted as the consequence of a single localized error in morphogenesis, e.g., Down syndrome E. Association--a recognized pattern of malformations which currently is not considered to constitute a syndrome or an anomalad; as knowledge advances, an association may be reclassified as a syndrome or as an anomalad, e.g., hemihypertrophy with Wilms tumor II. Proposal for classification of multiple malformation disorders A. Syndromes 1. Known etiology a. Chromosome abnormality b. Gene abnormality (i) Known biochemical defect (ii) No known biochemical defect c. Environmental factor 2. Etiology not established B. Anomalads C. Associations D. Combination of malformations, not assigned to any of the above categories III. Proposal for naming single malformations: Utilize adjective or descriptive term and the name of the structure or the classical equivalent in common use; e.g., small mandible or micrognathia IV. Proposals for naming patterns of malformations A. When the etiology is known and easily remembered, utilize the appropriate term to designate the disorder; e.g., trisomy 18 syndrome B. Continue time-honored designations unless there is good reason for change C. In the absence of a reasonably descriptive designation, eponyms, some of them multiple, may be used until the basic defect for the disorder is recognized; however, usage of an eponym should in the future be limited to one proper name D. The possessive use of an-eponym should.be discontinued since the author neither had nor owned the disorder, e.g., Down syndrome E. Designation of a disorder by one or more of its manifestations does not necessarily imply that they are either specific or consistent components of that disorder F. Avoid names which may have an unpleasant connotation for the family and/or affected individual G. The syndrome should not be designated by the initials of the originally described patients H. Names which are too general for a specific syndrome should be avoided I. Avoid acronyms unless extremely pertinent or appropriate. Considerable discussion centered on names for many o f the more common patterns of malformations. Although there was often unanimity in the choice of a name it was not always possible to obtain agreement by strict observance of the above guidelines because of preference for time-honored designations. The group generally expressed the hope that the guidelines would be observed in future naming of patterns ' of malformation and that consideration be given to the incorporation of these proposals in the next revision of the International Classification of Disease. V. Examples of recommended names A. Syndromes 1. Known etiology a. Chromosome abnormality (subclassified by karyotype)--trisomy 21 or Down syndrome, trisomy 18 syndrome, trisomy 13 syndrome, Turner syndrome, Klinefelter syndrome b. Gene abnormality neurofibromatosis, tuberous sclerosis c. Environmental factor--congenital rubella syndrome, congenital alcohol syndrome 2. Etiology not established-deLange or Cornelia deLange syndrome, Russell-Silver syndrome, Noonan syndrome, Beckwith-Wiedemann syndrome, Williams syndrome (for the hypercalcemia, peculiar facies, supravalvular aortic stenosis syndrome), Prader-Willi syndrome B. Anomalads-abdominal muscle deficiency anomalad, holoprosencephaly anomalad, Robin anomalad
163
1 64
Editor's column
thoughts back toward the presumed single initiating morphologic defect and to the cascade of developmental pathology which it triggered. 2. Anomalad does not connote a particular mode of etiology since the cause for the initiating structural defect may be heterogeneous. 3. An anomalad may occur in an otherwise normal individual or it may be one of multiple anomalies a n d / o r anomalads in the same individual. In the latter instance the question is: "What is the total diagnosis? Does the patient have a recognized syndrome?" For example, the Robin anomalad may occur in an otherwise normal individual, in which case the prognosis is usually good if the individual survives the early period of upper airway obstruction, However, as emphasized by Hanson and
The Journal of Pediatrics July 1975
Smith, about one-fourth of patients with the Robin anomalad have this as one feature in a multiple defect syndrome, in which case the prognosis, management, and counsel should be based on knowledge derived about that particular syndrome. 4. As the severity of the initial morphologic anomaly may vary, so the range of severity and extent of the consequent anomalad may be variable.
David W. Smith, M.D. Department of Pediatrics University of Washington Seattle, Wash, 98105 REFERENCE h Smith DW: Recognizable patterns of human malformation, Philadelphia, 1970, WB Saunders Company, pp 2-16.
Erratum. In the May, 1975, issue Of THE JOURNALOF PEDIATRICS(86:707, 1975), in the article "Hyperglycinemia and propionyl CoA carboxylase deficiency and episodic severe illness without consistent ketosis," by William B. Wadlington, Anthony Kilroy, Toshiyuki Ando, Lawrence Sweetman, and William L. Nyhan, the serum level of propionic acid in Table III should read 0.0264 pmoles/ml.
