Syndrome Designations M

J Med Genet: first published as 10.1136/jmg.13.4.266 on 1 August 1976. Downloaded from Journal of Medical Genetics (1976). 13, 266-270. Syndrome designations M. MICHAEL COHEN, Jr.* From Departments of Oral and Maxillofacial Surgery, Orthodontics, and Pediatrics, Schools of Dentistry and Medicine, University of Washington, Seattle, USA Summary. Because syndrome designations permit the collection of data, they are much more than just labels. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination ofthe above. None ofthese systems of nomenclature is without fault. The advantages and disadvantages of each are discussed. In the clinical delineation of various syndromes, a risk of recurrence. If a syndrome designation can formidable vocabulary has rapidly evolved to stand for such clinically relevant information where designate them. With the exception of specialists previously none existed, the designation can hardly in the field, most clinicians are baffled by the wide be called 'superficial' or 'an exercise in merelycopyright. assortment of terms used, such as oculo-auriculo- applying labels'. vertebral dysplasia, chondrodystrophia calcificans While the use of special terms for various syn- congenita, spondyloepiphysial dysplasia of the dromes is completely justified, there is no question pseudoachondroplastic type, Dubowitz syndrome, that designations used are frequently cumbersome, Hallermann-Streiff syndrome, Smith-Lemli-Opitz unscientific, confusing, or inaccurate. The reasons syndrome, and BBB syndrome. With the dis- for this will become apparent as we consider the covery of new syndromes almost daily, the number various ways that have been used to designate http://jmg.bmj.com/ of designations is expanding to the point where even malformation syndromes in particular. specialists can no longer remember all the syndrome Unquestionably, the ideal way to designate a designations or their phenotypic features. syndrome is to use the name of the basic defect, As in any scientific endeavour, the use of special such as an enzymatic defect or chromosomal ab- terminology is essential for communicating ideas. normality, when this is known. The basic defect However, some clinicians have maintained that in the Sanfillippo syndrome A is heparan sulphate labelling new syndromes is both superficial and an sulphatase deficiency (McKusick, 1972; Spranger, endeavour sui generis. Indeed, it has even been 1976), which is also a suitable name for the disorder. on September 24, 2021 by guest. Protected suggested that preoccupation with naming syn- Occasionally, the name of the basic defect can be dromes has interfered with the search for aetiology unwieldy, as in hypoxanthine-guanine-phosphori- (Warkany, 1971), a view to which we do not bosyl-transferase deficiency. In this instance, it subscribe. seems easier to use the term HGPRT deficiency or Because a syndrome designation permits the Lesch-Nyhan syndrome. collection of data, it is much more than just a label. All microscopically detectable chromosomal de- As a syndrome becomes further delineated, its fects associated with human malformation syn- name connotes (1) its phenotypic spectrum, (2) its dromes can be properly designated, such as trisomy natural history, and (3) its mode of inheritance or 13 syndrome, 4p- syndrome, XXY syndrome, and so forth. Received 22 December 1974. In the future, we can probably expect elucidation * In receipt of USPHS Career Development Award. of at least some heritable disorders of connective 266 J Med Genet: first published as 10.1136/jmg.13.4.266 on 1 August 1976. Downloaded from Syndrome designations 267 tissue at the molecular level and hence proper synonymous with chondrodystrophia calcificans designations for them. However, for a number of congenita (now changed to chondrodysplasia reasons (Gruneberg, 1947; Motulsky, 1971) the punctata). Since there are now at least two basic defect in the overwhelming majority of true aetiologically distinct forms of chondrodysplasia multiple congenital anomaly syndromes will remain punctata (Spranger, Opitz, and Bidder, 1971) the unknown. Thus, we are confronted by a bewilder- term Conradi syndrome is restricted to the auto- ing variety of malformation syndromes which must somal dominant form. be designated by some method other than naming There are several advantages in using eponyms. the condition after the basic defect. Since eponyms avoid anatomical description, Because different systems of nomenclature have expansion of the syndrome can take place as new been employed, a single syndrome may be known by facets are recognized without changing the name of several terms, thus causing confusion. For the syndrome. Furthermore, eponyms do not bias example, the hypertelorism-hypospadias syndrome the phenotypic spectrum of future reports because is also known as the Opitz syndrome (Smith, 1970) there are no features of the syndrome in the and the BBB syndrome (Opitz, Summitt, and designation. Nor do eponyms suggest a false Smith, 1969b). In general, a new syndrome may aetiology, prejudge the search for the basic defect, be denoted by (1) eponym, (2) one or more striking or conceal our ignorance of the nature of the dis- features, (3) an acronym, (4) a numeral, (5) a geo- order. The Hurler syndrome used to be known as graphic term or (6) some combination of the above. lipochondrodystrophy, erroneously suggesting a None of these systems of nomenclature is without basic defect in fat metabolism (McKusick, 1972). fault. Let us consider the advantages and dis- Obviously, the Hurler syndrome was a better advantages of each. suited name. Furthermore, when the basic defect Eponyms are frequently used to designate various became known (a-L-iduronidase deficiency), this malformation syndromes, e.g. Seckel syndrome, designation could be substituted for the interim Russell-Silver syndrome, and Klippel-Trenaunay- term Hurler syndrome. Weber syndrome. McKusick (1971) has argued One major disadvantage of eponyms is that more against using the possessive form of an eponym than one syndrome may be named after the same copyright. since others have often contributed to our under- individual. This is especially true in the study of standing of a given syndrome. Thus, Apert's malformation syndromes where a single clinician syndrome is incorrect, since the disorder was des- often discovers more than one syndrome. For cribed earlier by some (see Apert, 1906) and has example, Opitz's name appears in three different become more fully understood subsequently because designations, i.e. Optiz syndrome (hypertelorism- of the work of others (Park and Powers, 1920; hypospadias syndrome) (Smith, 1970), Leroy- Blank, 1960; Schauerte and St.-Aubin, 1966). Opitz syndrome (mucolipidosis 11) (Hansen, 1972), http://jmg.bmj.com/ Furthermore, to paraphrase Warkany (1971), Apert and Smith-Lemli-Opitz syndrome. Thus, con- neither had nor owned the syndrome he described. fusion confronts the neophyte who attempts to Thus, the term Apert syndrome or the Apert master nosology in the field irrespective of what syndrome seems preferable. device is used to separate various syndromes whose Two or more names are found in some eponyms designations include the same name. and may indicate various things. The Smith- Another disadvantage briefly alluded to earlier is Lemli-Opitz syndrome indicates collaboration. that frequently the individual for whom the syn- The Morquio-Brailsford syndrome indicates inde- drome was named was not the first to describe it. on September 24, 2021 by guest. Protected pendent simultaneous discovery. The Peutz- For example, the Down syndrome was reported Jeghers syndrome indicates revival by Jeghers of earlier by Seguin (Warkany, 1971). In some Peutz's earlier observations. Some eponyms instances, it is argued that credit should not honour clinicians who have added new facets to an necessarily be given to the first author who described already established syndrome, e.g. Sturge-Weber- a syndrome, but to the author who recognized the Krabbe syndrome. In some instances, an eponym syndrome as an entity or in some way illuminated seems briefer than the accepted scientific term. the disorder. For example, though the de Lange For example, it seems easier to say Osler-Rendu- syndrome was reported earlier by Brachmann Weber syndrome than hereditary haemorrhagic (Opitz et al, 1965) Berg et al (1970) have sug- telangiectasia. Finally, some eponyms are used gested retention of the designated de Lange because an alternative term has become aetiologic- syndrome rather than Brachmann-de Lange syn- ally heterogeneous since it was first described. drome because of the illuminating quality of de For example, the Conradi syndrome used to be Lange's contribution. In other instances, it is J Med Genet: first published as 10.1136/jmg.13.4.266 on 1 August 1976. Downloaded from 268 M. Michael Cohen, Jr. argued that any author who contributes to our syndrome and, with further delineation, it becomes understanding of a given syndrome should be apparent that ocular and cardiac defects are also included in the eponym. This reaches ridiculous striking features of the syndrome, in fact more extremes in the Luschka-Schirmer-Sturge-

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