J. med. Genet. (I966). 3, I04.

Hereditary Contractures of the Fingers(Camptodactyly)

J. PHILIP WELCH and SAMIA A. TEMTAMY

,From the Division of Medical Genetics, Department of Medicine, J'ohns Hopkins Hospital and J7ohns Hopkins UniversitySchool of Medicine, Baltimore, Maryland, U.S.A.

The occurrence of congenital contractures of thefingers, with apparent distinctions from the classicDupuytren's contracture, has been recognizedfor well over a hundred years (Tamplin, I846).Despite a considerable volume of early work on-the subject, particularly around the turn of thecentury, the condition seems to have been ignoredand gradually forgotten, so that it now does notreceive mention in most texts of general surgery,and Barsky (I958) does not include it in his standardtext on the hand. Boyes (I964) and Souttar andGoligher (I958) make passing reference to its-occurrence and Hamilton Bailey (I960) has aphotograph of a case. Stern (I957) discussed thepossibility of holandric inheritance in this con-.dition, though many early papers (see Table)testify to a fairly clear-cut dominant pattern ofinheritance.The condition is characterized by a limitation

-of extension at the proximal interphalangeal joint,-without limitation of flexion, typically accom-panied by hyperextension at the metacarpo-phalangeal joint, and sometimes at the terminalinterphalangeal joint. The little finger is the mostfrequently affected though any finger may beinvolved (usually in addition to involvement ofthe little finger); contracture bands may frequentlybe felt beneath the skin on the volar surface of theaffected joint and the transverse skin creases in-this location are invariably lost. The thumb andother finger joints rarely if ever show contractures.When the condition is bilateral, the hands usuallyshow similar degrees of involvement. While thecondition may be present at birth, it seems likelythat it may often arise in early childhood. Pro-gression is usually slight and occurs only during-the first two decades; incapacity is also slight,largely due to the 'compensatory' hyperextension

Received September 13, I965.

at other joints. Some authors (Schaff and Schafer,I948) have reported an associated difficulty ofabduction and adduction, but this is probably amechanical result of flexion at the proximal inter-phalangeal joint.

It seems likely that the condition is not excessivelyrare but is frequently unrecognized, or classifiedeither as Dupuytren's contracture or as an oldteno-synovitis.

Present interest in this condition was generatedby its chance finding in the proband (J.M., JHH496766) during examination for a probably un-related condition, essential hypertension. Theclinical findings in the proband's family, and incertain other cases we have subsequently seen,are presented, and the published reports arereviewed in an attempt to renew awareness of thecondition and of other anomalies with which itmay be associated, and to make some suggestionsregarding its relationship to Dupuytren's contrac-ture.

Present InvestigationThe affected members of the family are as noted

in the pedigree (Fig. i). Each stated that he hadhad the condition as long as he could rememberand that there had been no progression.The affected fingers were as described above,

and it may be stressed that flexion within thelimited range was quite normal. (This provides apoint of differentiation from an old teno-synovitis.)There is thus no fusion of the joint, as a cursoryinspection of an antero-posterior radiograph mightsuggest and as has been proposed by others (Schaffand Schafer, I948). The degree of limitation offlexion is unaffected by the position of the wrist,indicating that the impairment is not due toshortening of the long flexor tendons as has beensuggested (Davis and Finesilver, I932) and as

104

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

Hereditary Contractures of the Fingers (Camptodactyly)

I

1 2 3 14 9 10

III

IV (?E (Ee(()

1 12 3 4 5 6 7

1 E

1 2 3

Unaffected* Affected

Reputedly affected

E

I (t)E E E E

8 9 10 11 12

E E EJ) E E E

4 5 6 7 8 9 10

E Personally examined

\ Deceased

w Proband (JHH 496766)

FIG. I-

is sometimes given as a point of differentiationfrom Dupuytren's contracture.As other authors have remarked, the impression

is of a 'tightness' of the volar skin and underlyingtissue over the affected joint. Any contracturebands must be firmly adherent to the overlyingskin, though there is no puckering of the skinnor are there any palpable bands, skin nodules,etc. in the palms of any case in this family. Onlythe proximal interphalangeal joint was affected,the feet were clinically normal in the case of allthose examined, and there was no family historyof any other joint disability or of epilepsy. Nomembers of this family showed pectus excavatum,scoliosis, ptosis, or hypogonadism.

Case ReportsII.4: mother of the proband, aged 82, had all four

fingers of the right hand affected, also the left middleand ring fingers. The middle finger of right hand wasthe most affected, extension being limited to I35° (seeFig. 2). 'Knuckle pads' were present over the dorsalsurface of the proximal interphalangeal joints of bothindex fingers.

III.i: brother of the proband, aged 64, had onlyfifth fingers affected bilaterally, with no knuckle pads.

III.2: proband, aged 62, had limitation of extensionat proximal interphalangeal joints of all fingers except

right and left index. The right hand was more affectedthan the left. On the right, the ring and fifth fingerswere most affected, extension being limited to I40-I450.There were knuckle pads over the proximal inter-phalangeal joint on both index fingers, also on the middlefingers and the right ring finger (see Fig. 3). Radiographsof the hands did not show any bony abnormality;.in particular the heads of the proximal phalanges.appeared normal. Radiographs of the feet showed no

abnormality.IV.2: niece of the proband, aged 32, had only right

fifth finger affected.IV.II: son of the proband, aged 32, had fifth and

ring fingers affected bilaterally and had no knucklapads.

DiscussionNomenclature. Most of the early references

refer to the condition simply as congenital con-tractures of the fingers (Tamplin, I846; Neuhofand Oppenheimer, I914; Forrester-Brown, I929)or as congenital Dupuytren's contracture (Keen,I882; Greig, 1917). It may be noted that con-

tractures mentioned by Dupuytren (I854) in twoyoung girls (one aged 4) and a I4-year-old boy,were probably cases of camptodactyly, and wereapparently recognized by Dupuytren as a distinctentity, though attributed by him to 'deformity

II

I05

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

Welch and Temtamy

FIG. 2. Hands of II.4. Note the characteristic hyperextensionat the metacarpophalangeal joints.

of the articulations'. Dupuytren also reported theoccurrence of familial contractures of the toes (see'hammer toes' below).

In i885 Landouzy introduced the term 'campto-dactylie' or camptodactyly (Lucas-Championniere,

i885). Subsequently, various descriptive terms havebeen applied such as 'flexed fingers' (Spear, 1946)and 'hammer fingers' (Whitman, I930), and inI929, Hefner, describing a family in which onlythe fifth fingers were involved, coined the term

FIG. 3. Hands of proband III.2. Note the knuckle pads over theproximal interphalangeal joints of the index and middle fingers,and (R) ring finger, obliterating or displacing the normal dorsaljoint creases.

io6

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

Hereditary Contractures of the Fingers (Camptodactyly)

TABLE

107

ANALYSIS OF REPORTED CASES OF CAMPTODACTYLY

Author Male Female Comments

Hester (Ii85I) - IAnnandale (I866) 2 I Two of these were a father and 4-year-old daughterBrodhurst (I869) - IStephenson (I885) 3 - Dominant pattern with skipped generationAdams (I89I) 3 7 Also 2 males in affected families with hammer toesAnderson (I89I) 2 6 7 ascertained from 800 8-14-year-old childrenHerbert (I898) II 27 Details not givenScott (1903) 2 5 Pedigree shows 2 affected children from consanguineous marriage of normal parents,

pattern being otherwise dominant; also varying expression in those affectedHenneberg (I908) 6 5 Family study; one male appeared to be an unaffected carrier; one male (with normal

hands) had 6 tees (cf. Neel and Rusk, I963)Lotheissen (I909) Is I Mother and son; some operative notes givenNeuhof and Oppenheimer (1914) I 3 Dominant pattern of inheritance; operative findings givenGreig (I917) I - Infant with finger contractures since birth; parents normal; index, middle, and ring

fingers of both hands affected; contracture bands noted and skin involvedGassul (I9I8) - I Reported transmission through 3 generations, but insufficient detailSteindler (I920) - - 2-year-old child with many other congenital deformities; sex not givenFantham (1924) i - Quoted by Stern (I957) as possibly Y linked; not well described, but probably

camptodactylyHefner (1924) 2 - Father and son affectedMurphy (I926) 21 12 Not all examined; other anomalies also frequent in family including subluxation

of knee joint and foot anomalies, some similar to that reported by Neel and Rusk(I963)

Tomesku (I928) I - Parents normal but uncle had polydactyly; some operative findings givenMoore and Messina (1936) 2 4 Additional 2 children of unaffected member of family had proximal i.p. joints of

ith fingers fixed in extensionRitterskamp (I936) 3 3 4 generations of I family; dominant pattern possibly with some skipping but not

all family members examinedNowak (1937) II 2 Some with suggestive contractures not included in figures; family study showing

dominant patternMaurer (I938) 24 7 2I ascertained through examination of 6ooo schoolchildrenStoddard (1939) 4 7 4 generations of I family; dominant patternHefner (I941) 4 8 4 generations of I family; dominant patternMagnusson (1942) I4 14 Not all in one pedigree; one family had only fifth fingers affectedSpear (I946) 4 4 Varying expression over 6 generations; dominant pattern; author's own familySchaff and Schafer (1948) 2 - Authors claimed obliteration of affected joint of proband by fibrocalcific changes;

proband and maternal grandfather affectedMarton and Steinbrocker (I949) 4 No family history givenZumoff (I954) 4 3 Pedigree information from proband only; dominant patternNeel and Rusk (I963) 8 3 Dominant pattern with possible skipping (not all cases examined); some members

of family showed foot anomalies (not hammer toes)Currarino and Waldman (I964) 10 8 Several had other anomalies; a case of Marfan's syndrome with camptodactyly

also reportedPresent study 4 5 Well-marked variation of expression; 2 affected showed knuckle pads

Total I6I 142

Not included in this Table, because of insufficient information, are 3 pedigrees given by Allan (1939), which show a total of 5 females and6 males affected Also excluded are the data of Goldflam-Warschau (I906), since almost all these cases were atypical in that only the distali.p. joint was involved.

'streblomicrodactyly'. Confusion has been furthercompounded by Clarkson and Pelly (I962) whoremarked that congenital contractures might affectany of the proximal interphalangeal joints andthat when it occurred in the fifth finger, it wasknown as 'campylodactyly'.

Camptodactyly should be distinguished fromcinodactyly (brachymesophalangy of the fifthfinger), the latter referring to a radial curvatureof the little finger, which is often associated witha triangular appearance of the middle phalanx,and which is a frequent finding in many unrelatedsyndromes, such as Down's syndrome (mongolism)and the oro-facio-digital syndrome. Clinodactylymay also occur as an isolated finding, inheritedas a dominant trait, and is regarded by Bell (I95I)as a type of brachydactyly (type A3). Someauthors have confused cinodactyly with campto-

dactyly, sometimes grouping the two together as'crooked little fingers' (e.g. Gates, 1946).

It is suggested that the original term campto-dactyly should be applied to all cases fitting thegiven description, no matter which finger isaffected.

Incidence. Most authors who mention thecondition comment that it is more frequent ingirls, and this is commonly given as a point ofdifferentiation from Dupuytren's contracture. Asurvey of the past literature was made in an attemptto get a more accurate impression of the sexincidence. Results are given in the Table. Whilethese are hardly a random or unbiased sample,they do represent all the reported cases that arelikely examples of the condition. Cclearly, on these

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

io8 Welch and Temtamy

figures, the condition is equally distributed between It should be noted that similar shortening ofthe sexes. It may be noted that the cases reported collateral ligaments may also be found in severeby Goldflam-Warschau (I906) do not fit into the Dupuytren's contracture (Hueston, I963). Ifusual pattern, since, in his cases, the distal inter- camptodactyly were similar to Dupuytren's con-phalangeal joint was principally affected. In tracture, it would be expected that the collateralregard to the over-all frequency, a rough indication ligaments would be secondarily involved moreis gained from the work of Anderson (I89I) who often in the former condition, since finger contrac-found 7 cases among 8oo schoolchildren, and tures commonly arise during the growing period,Maurer (I938) who found 2I cases among 6,ooo whereas Dupuytren's (i.e. with palmar changes),schoolchildren. Sorrel (I938) reported a case of usually arises only in adult life.'camptodactyly' of the thumb (bilateral), but in The operative finding of contracted fascialthis case the condition was due to a tendon abnor- bands, spanning the volar surface of the jointmality (presence of nodules demonstrated at and thus giving rise to the condition, was notedoperation) indicating that this was almost certainly by Jobert and Blandin as long ago as I846 andnot the same condition as that under discussion. subsequently by Adams (I89I), Nichols (I899),

It is of some historical interest that the suggestion Lotheissen (I909), Tomesku (I928), and Cur-has been made that the model used by Durer in rarino and Waldman (I964). Perhaps the mosthis famous painting of hands in prayer, was interesting account was that of Lockwood (i886)possibly a sufferer from early Dupuytren's con- who described the dissection of two cases and com-tracture; examination of the painting seems to pared them with a typical Dupuytren's contracture:indicate, however, that the owner of the hands, according to Lockwood, the bands were adherentif he had any abnormality, more probably had to skin, and in a case where the whole hand wascamptodactyly. available, the fascial bands extended far into the

palm. The only distinction from Dupuytren'sPathology. The nature of the deformity is contracture lay in the greater implication of skin

not well known, most of those affected being little and palmar fascia in the latter. One of the fingerinconvenienced, so that few cases come to operation contracture specimens was placed in the St.and subsequent pathological examination. This Bartholomew's Hospital Museum (No. I203 B).has given rise to much speculation as to the nature Certain other authors, notably Schultze (1913),of the deformity, usually on scant evidence. Scott have also commented on the similarity to Dupuy-(1903) and also Magnusson (I942) believed that tren's contracture.the deformity was due to a volar tilting of the heads A search of records at the Johns Hopkins Hos-of the proximal phalanges, but this is not sub- pital disclosed a case which appeared consistentstantiated even by their own radiographs. Others with the theory regarding the relative importancehave claimed that there is a subluxation at the of the role played by the contracted subcutaneousaffected joint but, as has been pointed out most tissue. This was a 4-year-old white male (K.P.recently by Hueston (I963), when the normal 670983) in whom camptodactyly of the left littlejoint is flexed the second phalanx rides down finger had been noted from birth. At operationon to the neck of the first phalanx. Greig (1917) only the lateral joint ligaments were divided and theand Hefner (1924) believed that the condition finger was forcibly extended. Extension was notwas due to contraction of the long or short flexors: retained after operation, and examination nowhowever, examination with wrist flexion readily clearly reveals contracture bands spanning the volarrules out this possibility. It has also been suggested surface of the joint. Clinical examination wasthat the condition is due to contracture of the otherwise normal and there was no history of anylateral ligaments of the first interphalangeal joint. other affected member of the family.This is largely based on the report of Neuhof and Nichols (I899) described a typical case of con-Oppenheimer (I914) who found it necessary tracture of a single digit at the proximal inter-to divide the lateral ligaments in order to bring phalangeal joint and though admitting that theabout extension. However, they also found, and contracture of the digital fascia is analogous todivided, a firm band of fascia over the flexor ten- the 'common' type of Dupuytren's contracture,dons, and their own conclusion was that the he did not feel he could classify it as such. He alsocondition was brought about by the 'contracted claimed to have seen cases of 'hammer finger'condition of the skin and fascia and partly by the arising in adult life and two cases of 'hammercontracted condition of the articular ligaments by finger' associated with Dupuytren's contractureadopted. shortening during growth' (our italics). (presumably palmar) which he was unable to classify,

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

Hereditary Contractures of the Fingers (Camptodactyly)

More recently, Hueston (I963), while remarkingthat typical Dupuytren's contracture may ariseat an early age (e.g. in a i2-year-old male observedby him), added that it should not be confused with'hypoplasia of the volar digital structures, commonlysymmetrical, in little girls (campylodactylia)'.However, he goes on to comment that Dupuytren'smay occasionally manifest as a short interphalangealband producing a flexion deformity of the proximalinterphalangeal joint. This band was describedin some detail and a photograph showed an affectedfourth digit with hyperextension at the metacarpo-phalangeal joint typical of the 'congenital' contrac-ture.

It seems reasonable to conclude that Dupuytren'scontracture and camptodactyly, though geneticallydistinct, may be related disease processes withoccasional phenotypic overlap.

Associated Conditions. It is now recognizedthat Dupuytren's contracture is not uncommonlyassociated with other connective tissue anomalies,such as plantar nodules (Conway, I954) and withPeyronie's syndrome (Skoog, I948; Hueston, I963)of which, a familial instance has recently beenreported (Murley, I964). There also seems tobe some association with epilepsy, though its natureis not clear (Lund, 194I; Skoog, I948; Early, I962).The best documented association, however, is

that with knuckle pads (Garrod, I893, I904;White, I908; Lund, I94I; Weber, 1938; Skoog,I948), the association being so close that it has beenasserted that those who show this feature alwayseither have, or later develop, Dupuytren's con-tracture (McIndoe and Beare, I958). The findingsin the family here reported, however, indicatethat knuckle pads may also occur with campto-dactyly, the two affected members being of suchan age that a 'typical' Dupuytren's contracturewould probably have appeared, were it going todevelop. Futhermore, we have since seen knucklepads in an affected member of another familywith camptodactyly, while a photograph in anotherrecent publication (Barinka, I964a, photograph ia)also suggests the coexistence of knuckle pads. Itis of historical interest that Garrod (1904), com-menting on the occurrence of Dupuytren's con-tracture in those with knuckle pads, remarkedthat, 'in most instances the puckering in the palmwas well marked ... but in one or two there wasmerely a fibrous thickening on the palmar aspectof the little finger, causing flexion, but withoutany obvious implication of the palmar fascia'.These observations on knuckle pads appear tolend substance to the theory of phenotypic overlap

between camptodactyly and Dupuytren's con-tracture.There are a few reports of coexistent campto-

dactyly and Dupuytren's contracture (Nichols,I899; Weber, I938; Barinka, I964b), and Skoog(I948) noted a Dupuytren's contracture in a74-year-old woman who had had bilateral 'hammertoes' since youth (the latter not infrequently foundin families and individuals with camptodactyly'(Adams, I89I, I892; Koenner, I934; Barinka,I964b)). These may represent a phenotypic overlap,but could be simply chance, since Dupuytren'scontracture is exceedingly common in later life,possibly as high as I5-20% (Early, I962, I964),at which time the sex incidence may approachequality (Hueston, I963).

It is now apparent that a number of conditionsmay be associated with camptodactyly. Footanomalies other than hammer toes may be found,the most striking being a bony outgrowth of thesecond metatarsal which may be surmounted byone, or possibly more, extra phalanges. Externallyit may be marked by a curious overlapping of thesecond and third toes. We have noted this in onefemale member of a family with camptodactyly(Fig. 4 and 5) who also had fusion of the first andsecond cuneiform bones. The mother and othermembers of the family had camptodactyly, but noother abnormalities were detected nor was thereany known consanguinity. Neel and Rusk (I963)have also described these features among somemembers of a family with camptodactyly, thoughthey considered it a separate entity from campto-dactyly. Barinka (I964b) has published photographsof patients with camptodactyly, which are stronglyreminiscent of this foot anomaly, and Murphy(I926) may well have been describing the samecondition. Henneberg (I908) reported polydactylyof the toes (type unspecified) in a family withcamptodactyly. A solitary report (Tomesku, I928)which mentions polydactyly of the fingers in anuncle of a patient with camptodactyly is probablynot pertinent.

In other instances camptodactyly appears tobe part of the pleiotropic clinical spectrum ofcertain genetically determined conditions whichotherwise show little phenotypic overlap witheach other. Thus it is well known that campto-dactyly is not infrequent in Marfan's syndrome,a genetically determined, dominantly transmitted,generalized connective tissue disorder (Marfan,I896; Kallius, 1928; McKusick, I960).In another disorder, cranio-carpo-tarsal dys-

trophy, first described by Freeman and Sheldon(I938), severe camptodactyly is an almost constant

I09

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

Welch and Temtamy

FIG. 4. Radiograph of feet showing bony spurs arising from theproximal portions of the second metatars-i bones. There is also a

similar bony spur arising from the distal portion of the right fifthmetatarsal with bilateral fusion of the first and second cuneiformbones and also of the middle and distal phalanges of the lateralfour toes. Radiographs of other parts of the body revealed a slightthoracic scoliosis but no other skeletal abnormalities.

FIG. 5. Hands of the same patient as in Fig. 4, showing campto-dactyly of the fifth fingers of both hands, more marked on the right.Note the 'band' on the palmar surface of the left fifth finger and thetight appearance of the skin around the distal phalanges of all thedigits.

IIO

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

Hereditary Contractures of the Fingers (Camptodactyly)

feature, and some familial occurrences suggest anautosomal dominant mode ofinheritance.

Camptodactyly is also a frequent feature of athird syndrome, oculodento-digital dysplasia, forwhich the report of Gillespie (I964) of two affectedsibs suggests an autosomal recessive mode ofinheritance.

In addition to the above associations, there isevidence that camptodactyly may be a frequentaccompaniment of a group of other anomalies.Thus Maurer (I938) described 3I cases of campto-dactyly and found a high incidence of other abnor-malities which he believed to be indicative of aparticular 'constitutional type'. Prominent amonghis findings were funnel chest deformity (17/3I),slight 'winging' of the scapula (I5/3I), and elevationof one or other scapula (7/3i). A large numberwere also claimed to show a high-arched palate;and kyphoscoliosis, ptosis, hemi-hypertrophy, andarachnodactyly were also reported in some cases.Barinka (i964a, b) has also noted the associationwith arachncdactyly, contractures of the toesand funnel sternum, and published photographsthat appear to illustrate some of the other anomaliesdescribed by Maurer in patients with campto-dactyly. Steindler (I920) reported the case of a2-year-old child with probable camptodactyly,elevation of the left scapula, scoliosis, fusion of thethird and fourth ribs on the left side, and possiblyother anomnalies.Hanley and McKusick (I966) described the

occurrence of some of the features described byMaurer in I938 (pectus excavatum and ptosis) intwo strikingly similar brothers, one of whom hadcamptodactyly. Also noted in these sibs werehypertelorism, osteochondritis dissecans, mal-descent of the testes, and, in one, hypogonadism.

Recently Currarino and Waldman (I964)reported I9 cases of camptodactyly. They notedthe occurrence of ptosis in some patients and ofpartial hemi-hypertrophy in one patient. They alsoreported the occurrence of camptodactyly in acase of presumed Klinefelter's syndrome (chromo-some studies not reported) which might be com-pared to the hypogonadal state noted in one of thetwo sibs described by Hanley and McKusick(i966).The association of camptodactyly with pectus

excavatum, slight thoracic scoliosis, dwarfism,and bilateral ptosis was also noted in a singlefemale patient during a survey of hand anomaliesbeing conducted by one of us (S.A.T.). The chestdeformity is often marked by undue prominenceof the manubrio-sternal junction (also shown inMaurer's photograph of a case) which in our own

patient and in the sibs described by Hanley andMcKusick (I966) appears attributable to prematurefusion of this joint-an otherwise uncommonsternal malformation (Currarino and Silverman,I958).

Aetiology and Conclusions. The aetiology ofDupuytren's contracture has long been a subject ofdiscussion; however, there now seems little doubtthat there is a strong genetic influence, the diseasefrequently being familial (Garrod, I904; Sprogis,I926; Schroder, I934; Skoog, 1948; Ling, I96I,I963). It is now recognized that Dupuytren's con-tracture is often bilateral (Davis and Finesilver,I932) and may be associated with other disorders(see above).

Camptodactyly occurring as an isolated findingis also an inherited condition, the usual pattemof transmission being that of a dominant trait witha few instances of possible transmission throughan unaffected individual (non-penetrance) (seeTable). The family presented, and also thatreported by Scott (1903), clearly demonstrate thevariation in severity, and that camptodactyly ofthe little finger is not to be distinguished from thatoccurring in other digits.

Camptodactyly also forms part of the spectrumof at least three genetically determined conditions,namely, Marfan's syndrome, cranio-carpo-tarsaldystrophy, and oculo-dento-digital dysplasia. Thepossibility of a fourth, previously unrecognized,syndrome in which camptodactyly is one of themost constant features, is suggested by the obser-vations of Maurer (I938), Hanley and McKusick(I965), by our findings outlined above, and byCases 2 and 8 reported by Currarino and Waldman(I964). This syndrome frequently features pectusexcavatum, mild scoliosis, ptosis, and hypogona-dism. In some instances in which camptodactylyhas occurred in conjunction with one or moreof the above anomalies, additional features havebeen noted including dwarfism, winging or elevationof the scapula, high arched palate, and somedegree of hemi-hypertrophy. (See Barinka, I964b;Steindler, I920.) The pattern of inheritance ismost probably that of a dominant trait with variablepenetrance.

It also seems well established that foot anomaliesmay occur in association with camptodactyly,though it is much less clear at this time whether thelatter association is part and parcel of the supposedfourth syndrome described above. We have,however, seen a single case in which these footanomalies were associated with radiological evidenceof scoliosis (see Fig. 4). Alternatives are that the

III

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

Welch and Temtamy

bony changes in the feet are occasionally associatedwith otherwise 'simple' camptodactyly, or thatthey constitute yet another distinct syndrome. Afurther possibility is that consanguinity may accountfor some of the cases with associated foot defor-mities, as suggested by the findings in one familythat all the proven cases showing such featuresoccurred in the offspring of consanguineousmatings (Neel and Rusk, I963).

It remains possible that all these manifestationssimply reflect the variability, commonly associatedwith dominant traits, of a single entity, campto-dactyly. We feel, however, that the occurrenceof similarly severely affected individuals in somefamilies, and apparently 'simple' camptodactylyin other families, argues for the existence ofdistinct entities.

Finally, the possibility of environmental influencein the determination of camptodactyly may bementioned. Walters and Zahra (1957) found agreatly increased incidence of 'Dupuytren's con-tracture' among a few villages in Eastern Nigeria,which seemed significantly correlated with anincreased incidence of yaws in that area, though agenetic explanation is probably not excluded.Their description of the condition closely resemblescamptodactyly, possibly with knuckle pads in somecases, rather than the classical Dupuytren's con-tracture.

Further progress in our knowledge of the geneticsof camptodactyly is most likely to come throughexamination of more persons showing this trait,and it should be emphasized that the occurrenceof this condition should never be assumed to bea solitary anomaly. Furthermore, the familyhistory should always be ascertained and preferablyfollowed by examination of all relatives showingpossible anomalies. It should be rememberedthat the person with camptodactyly may simplybe exhibiting a mild expression of a deleteriousgenetic influence more obviously manifest in othermembers of his family.

SummaryA family showing hereditary contractures of the

fingers (camptodactyly) is presented and discussed.The condition is frequently overlooked and itspathology poorly understood.

In this presentation and review an attempt hasbeen made to suggest that many of the featuresenumerated in the past as providing points ofdifferentiation of camptodactyly from Dupuytren'scontracture are not valid; only the lack of involve-ment of the metacarpo-phalangeal joint, slowerprogression, absence of puckering of the skin with

overt palmar involvement, and occurrence at anearly age, provide truly distinguishing featureswhen attention is limited to the changes in thehands.

It is also suggested that camptodactyly andDupuytren's contracture may each be simplyfacets of more generalized connective tissuedisorders which show some phenotypic overlap,and that camptodactyly may be one of the pleio-tropic manifestations of a number of geneticallydistinct disorders, as outlined, one of which hasbeen recognized only relatively recently, and mayshow pectus excavatum, scoliosis, ptosis, hypo-gonadism, and other anomalies.

This work was supported in part by National Insti-tutes of Health grant GMIoI8g.

REFERENCES

Adams, W. (I89I). On congenital contraction of the fingers and itsassociation with 'hammer toe'. Lancet, 2, iii and i65.- (I892). On Contractions of the Fingers and on Hammer-toe,2nd ed. J. and A. Churchill, London.

Allan, W. (I939). Inheritance of short finger tendons. J. Hered.,30, 2I8.

Anderson, W. (I89I). Contractions of the fingers and toes. Lancet,2, 107.

Annandale, T. (i866). The Malformations, Diseases and Injuriesof the Fingers and Toes. Lippincott, Philadelphia.

Bailey, H. (I960). Demonstrations of Physical Signs in ClinicalSurgery, I3th ed. J. Wright, Bristol.

Barinka, L. (I964a). Campylodactylia. Acta Chir. plast. (Praha),6, 54.- (I964b). Notes on campylodactylia. II. ibid., 6, 154.Barsky, A. J. (I958). Congenital Anomalies of the Hand and their

Surgical Treatment. Charles C. Thomas, Springfield, Illinois;Blackwell Scientific Publications, Oxford.

Bell, J. (I95I). On brachydactyly and symphalangism, p. 5. (TheTreasury of Human Inheritance. Vol. V. On Hereditary DigitalAnomalies, ed. L. S. Penrose. Part I.) Cambridge UniversityPress, London.

Boyes, J. H. (I964). Bunnell's Surgery of the Hand, 4th ed. Lippin-cott, Philadelphia.

Brodhurst, B. E. (1869). Lectures on orthopedic surgery. V. Oncontractions of the limbs. Lancet, I, 35.

Clarkson, P., and Pelly, A. (I962). The General and Plastic Surgeryof the Hand, p. 4I8. Blackwell, Oxford.

Conway, H. (1954). Dupuytren's contracture. Amer. J. Surg.,87, 101.

Currarino, G., and Silverman, F. N. (I958). Premature obliterationof the sternal sutures and pigeon breast deformity. Radiology,70, 532.-, and Waldman, I. (I964). Camptodactyly. Amer.J. Roentgenol.,

92, 1312.Davis, J. S., and Finesilver, E. M. (1932). Dupuytren's contraction.

Arch. Surg., 24, 933.Dupuytren, Baron G. (I854). On Lesions of the Vascular System,

Diseases of the Rectum, and Other Surgical Complaints; being ...Clinical Lectures, translated and edited by F. Le Gros Clark.Sydenham Soc., London.

Early, P. F. (I962). Population studies in Dupuytren's contracture.J. Bone Jt Surg., 44B, 602.- (I964). Genetics of Dupuytren's contracture. Brit. med. J.,

I, 908.Fantham, H. B. (1924). Heredity in man: its importance both

biologically and educationally. S. Afr. J. Sci., 21, 500.Forrester-Brown, M. F. (1929). Diagnosis and Treatment of Defor-

mities in Infancy and Early Childhood. Oxford University Press,Oxford.

II12

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from

Hereditary Contractures of the Fingers (Camptodactyly)

Freeman, E. A., and Sheldon, J. H. (1938). Cranio-carpo-tarsaldystrophy. An undescribed congenital malformation. Arch.Dis. Childh., 13, 277.

Garrod, A. E. (I893). On an unusual form of nodule upon the jointsof the fingers. St Bart. Hosp. Rep., 29, I57.

(1904). Concerning pads upon the finger joints and theirclinical relationships. Brit. med. J., 2, 8.

Gassul, R. (I9I8). Eine durch Generationen pravalierende sym-metrische Fingerkontraktur. Dtsch. med. Wschr., 44, I196.

Gates, R. R. (1946). Human Genetics. Macmillan, New York.Gillespie, F. D. (I964). A hereditary syndrome: 'dysplasia oculo-

dentodigitalis'. Arch. Ophthal., 71, i87.Goldflam-Warschau, S. (I906). Ein Fall von kongenitaler, familiarer

Ankylose der Fingergelenke. Munch. med. Wschr., 53, 2299.Greig, D. M. (I9I7). A case of congenital Dupuytren's contraction

of the fingers. Edinb. med. J., 19, 384.Hanley, W. B., and McKusick, V. A. (i966).J. BoneJt Surg. To be

published.Hefner, R. A. (I924). Inherited abnormalities of the fingers. J.

Hered., I5, 48I.(I929). Inheritance of crooked little fingers (streblomicro-

dactyly). ibid., 20, 395.- (i94i). Crooked little fingers: (minor streblomicrodactyly).

ibid., 32, 37.Henneberg (ig08). Kasuistischer Beitrag zur kongenitalen,

familiaren, dermatogenen Kontraktur der Fingergelenke. Dtsch.med. Wschr., 34, 1804.

Herbert (I898). La camptodactylie. Gaz. hebd. Mid. Chir., n.s.,3, 77I'

Hester, J. T. (i85i). On congenital contractions of the fingers.Med. Times (Lond.), n.s. 2 (O.S. 23), 315.

Hueston, J. T. (i963). Dupuytren's Contracture. Livingstone,Edinburgh.

Jobert, and Blandin (1846). La retraction des doigts par des bridesaccidentelles. Ann. de Therapie, Fevre, p. 432.

Kallius, H. U. (1928). Ein Fall von Arachnodaktylie. Dtsch. Z.Chir., 209, 256.

Keen, W. W. (1882). The etiology and pathology of Dupuytren'scontracture of the fingers. Philad. med. Times, 12, 370.

Koenner, D. M. (1934). Abnormalities of the hands and feet. J.

Hered., 25, 329.Ling, R. S. M. (1961). Genetic factor in Dupuytren's disease.

Lancet, 2, 912.(1963). The genetic factor in Dupuytren's disease. J. Bone

Jt Surg., 45B, 709.Lockwood, C. B. (i886). Contractions of the digital and palmar

fascia. Trans. path. Soc. Lond., 37, 556.Lotheissen (ig09). Discussion in Wien. klin. Wschr., 22, 2i6.Lucas-Championniere, P. (I885). Sur une deformation particuliere

des doigts propre a l'arthritisme. J. Mid. Chir. prat., 56, 485.Lund, M. (I941). Dupuytren's contracture and epilepsy. Acta

psychiat. (Kbh.), I6, 465.McIndoe, A. H., and Beare, R. L. B. (i958). The surgical manage-

ment of Dupuytren's contracture. Amer. J. Surg., 95, 197.McKusick, V. A. (ig6o). Heritable Disorders of Connective Tissue,

2nd ed. C.V. Mosby, St. Louis.Magnusson, R. (1942). La camptodactylie. Acta chir. scand., 87, 236.Marfan, A. B. (I896). Un cas de deformation congenitale des

quatre membres plus prononcee aux extremities caracteris6epar l'allongement des os avec un certain degre d'amincissement.Bull. Soc. Med. Paris, 13, 220.

Marton, R., and Steinbrocker, 0. (1949). Congenital contractureof the fifth finger. N.Y. St. J. Med., 49, io64.

Maurer, G. (1938). Die Kamptodaktylie. Arch. orthop. Unfall-Chir.39, 365.

Moore, W. G., and Messina, P. (1936). Camptodactylism and itsvariable expression. J. Hered., 27, 27.

Murley, R. S. (i964). Peyronie's disease. Brit. med. J., I, 908.Murphy, D. P. (1926). Familial finger contracture and associated

familial knee-joint subluxation. J. Amer. med. Ass., 86, 395.Neel, J. V., and Rusk, M. L. (I963). Polydactyly of the second

metatarsal with associated defects of the feet: a new, simplyinherited, skeletal deformnity. Amer. J. hum. Genet., I5, 288.

Neuhof, H., and Oppenheimer, E. D. (I914). Congenital contrac-tures of the fingers, with the report of a case of the familial type.Surg. Gynec. Obstet., I9, 193.

Nichols, J. B. (1899). A clinical study of Dupuytren's contractionof the palmar and digital fascia. Amer. J. med. Sci., 117, 285.

Nowak, H. (I937). Die familiare Ankylose der Fingergelenke.Dtsch. med. Wschr., 24, 937.

Ritterskamp, P. (I936). Eine Familie mit Kamptodaktylie. Munch.med. Wschr., 83, 724.

Schaff, B., and Schafer, P. W. (1948). Camptodactyly. Arch.Surg., 57, 633.

Schroder, C. H. (I934). Der Erbgang der Dupuytren'schenKontraktur. Zbl. Chir., 6I, I056.

Schultze, E. (1913). Angeborene familiare Kontraktur der Gelenkedes kleinen Fingers. Zbl. GrGeb. Med. Chir., I6, 608.

Scott, J. (1903). Hammer-finger, with notes of seven cases occurringin one family. Glasg. med. J., 60, 335.

Skoog, T. (1948). Dupuytren's contraction. Acta chir. scand.,96, Suppl. I39.

Sorrel, E. (1938). Un cas de camptodactylie des deux pouces.Mem. Acad. Chir., 64, 628.

Souttar, Sir H. S., and Goligher, J. C. (I958). Textbook of BritishSurgery, Vol. III. Heinemann, London.

Spear, G. S. (1946). The inheritance of flexed fingers. J. Hered.,37, I89.

Sprogis, G. (1926). Beitrag zur Lehre von der Vererbung derDupuytrenschen Fingerkontraktur. Dtsch. Z. Chir., I94, 259.

Steindler, A. (I920). Congenital malformations and deformitiesof the hand. J. orthop. Surg., 2, 639.

Stephenson, S. H. A. (I885). Hereditary transmission ofDupuytren's contraction. Brit. med. J'., I, 536.

Stem, C. (I957). The problem of complete Y-linkage in man.Amer. J. hum. Genet., 9, I47.

Stoddard, S. E. (I939). Nomenclature of hereditary crookedfingers: Streblomicrodactyly and camptodactyly-are theysynonyms? Hered., 30, 511.

Tamplin, R. W. (1846). Lectures on the Nature and Treatment ofDeformities. Barrington and Haswell, Philadelphia.

Tomesku, I. (1928). Kongenitale deviationen der Phalangen.Arch. orthop. Unfall-Chir., 26, I26.

Walters, J. H., and Zahra, A. (I957). The aetiology of Dupuytren'scontracture in Eastern Nigeria. Trans. roy. Soc. trop. Med.Hyg-, 51, 346.

Weber, F. P. (1938). A note on Dupuytren's contraction, campto-dactylia and knuckle pads. Brit. J. Derm., 50, 26.

White, W. H. (I908). On pads on the finger-joints. Quart. J.

Med., I, 479.Whitman, R. (1930). A Treatise on Orthopedic Surgery, gth ed.Lea & Febiger, Philadelphia.

Zumoff, B. (1954). Congenital symmetrical finger contractures.J. Amer. med. Ass., 555, 437.

II3

on Decem

ber 12, 2020 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as 10.1136/jmg.3.2.104 on 1 June 1966. D

ownloaded from