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PubMed1999

A prehistoric example of polydactyly from the Iron Age site of Simbusenga, Zambia.

Human burials, dated AD 1100-1500, were examined from the Iron Age site of Simbusenga, located some 35 miles northwest of Victoria Falls in Zambia. Pedal polydactyly was discovered in the fragmentary remains of a young adult of indeterminate sex aged 14-25. The preaxial form of polydactyly is indicated with bilateral involvement of the first metatarsals. There is incomplete hypoplastic duplication of both first metatarsals with broad heads for the metatarsal-phalangeal joints. No digital malformations were found in the other seven individuals with feet and/or hands from the site. Several studies point to autosomal dominance for cases of isolated polydactyly, but inheritance and patterning of preaxial polydactyly are still incompletely understood. The condition is also found in conjunction with genetic malformation syndromes such as Acrocephalypolysyndactyly, Lambotte, Oro-facio-digital, and VATER. High frequencies of polydactyly are reported for African and African-American populations, but further analysis reveals that the bulk of previously reported cases of polydactyly are representative of the postaxial form as opposed to the preaxial expression seen here.

Adolescent↗
PubMed1993

"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.

Analysis of familial cases of the so called "holoprosencephaly-polydactyly" ("pseudotrisomy 13") syndrome shows that neither holoprosencephaly, nor polydactyly are obligatory manifestations of this condition. This review of previous case reports shows that each of these anomalies is only found in approximately 60% of affected sibs, and therefore these sentinel abnormalities are not required for diagnosis. We propose a widening of the phenotypic spectrum of this syndrome and consideration of the use of an eponomic name, such as the Cohen-Gorlin syndrome, or clear recognition that the sentinel findings of holoprosencephaly and polydactyly are not essential for diagnosis. We propose the following diagnostic criteria for the syndrome. The diagnostic criteria for sporadic cases would include a normal karyotype and either (1) a combination of holoprosencephaly and post-axial polydactyly with or without other characteristics, or (2) a combination of holoprosencephaly with other characteristics but without polydactyly, or (3) a combination of postaxial polydactyly, brain defects (microcephaly, hydrocephaly, agenesis of corpus callosum) and other characteristics. The diagnostic criteria for the familial cases would be the same, except that, as long as the other sibs have no abnormalities contradicting the diagnosis, a normal karyotype would be required in only one affected sib.

Abnormalities, Multiple↗
PubMed2006

Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree.

Polydactyly is one of the most common forms of congenital malformation in humans, and is displayed by 119 disorders. Crossed polydactyly (CP) is defined as the coexistence of preaxial and postaxial polydactyly with a difference in the axes of polydactyly between the hands and feet. In an effort to map the gene responsible for CP, we studied a seven-generation Chinese family of 56 individuals, 28 of whom were affected. A thorough search with highly informative polymorphic markers showed no recombination among the affected members with the markers on chromosome 7p15-q11.23, but no linkage with chromosomes 2q31, 7q36, 13q, and 19p. Mutation analysis showed a substitution mutation of 1927C --> T in exon 12 of the GLI3 gene, which is predicted to pretruncate the GLI3 protein. This mutation has variable phenotypes of polydactyly, indicating that other genetic factors also contribute to the diversity of polydactyly phenotypes. Our results increase the phenotypic spectrum caused by GLI3 mutations and are important for the analysis and understanding of the etiology of these limb malformations.

Asian People↗
PubMed2006

Thumb polydactyly: clinical outcome after reconstruction.

PURPOSE: To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification. METHODS: Between 1993 and 2000 inclusive, out of the patients with thumb polydactyly (involving 80 thumbs) operated on, 34 patients (36 thumbs) were available for review and underwent clinical and radiological assessment. Outcomes in terms of the Tada score and complications were recorded. RESULTS: The mean age of patients at the time of operation was 2.8 (range, 0.6-47) years. The mean follow-up period was 5 (range, 2.4-10) years. According to the Wassel classification, 12 were type-II thumb polydactyly, 3 type-III, 11 type-IV, 6 type-V, one type-VI, and 3 type-VII. There was no perioperative mortality or wound infection. More than 88% of the patients were satisfied or very satisfied with functional and cosmetic outcomes. Postoperative complications such as scar hypertrophy, pulp atrophy, joint deformity, and instability were common but minor. Ridge nail deformity after the Bilhaut Cloquet procedure was amenable to secondary corrective procedures. All types of operated thumb polydactyly achieved similar mean Tada scores (14.7- 16.6 out of 20). The Wassel classification category, age, and surgical procedures were found to have no prognostic value with regard to the Tada score and presence of complications. CONCLUSION: Surgery on thumb polydactyly is rewarding. The Wassel classification category can be used as a guide for treatment, although it fails to predict the occurrence of postoperative complications or Tada scores. Our patients' results can serve as guidelines of expected outcomes after reconstructive procedures in different sub-types of thumb polydactyly.

Adolescent↗
PubMed1999

[Polydactyly of the hand and foot].

OBJECTIVE: Our aim was to establish the differences between polydactyly of the hand, the foot and those affecting both the hands and feet. PATIENTS AND METHODS: One hundred twenty-five cases of hand polydactyly (HP), 105 of foot polydactyly (FP) and 25 cases of combined hand and foot polydactyly (HFP) were reviewed. We differentiated between preaxial, postaxial, axial and peculiar polydactyly and a group constituted by all other non-preaxial location (OTHERL) was also formed. In all patients the following parameters were analyzed: sex, laterality, antecedence of malformation in the family (FAANT) and the existence of other malformations (OTHERM). RESULTS: Polydactyly was commonly preaxial in the hand (72%), OTHERL in the foot (64.7%) and equally located in hands and feet in HFP, with the most frequent being postaxial/postaxial combination (36% of the cases). Bilaterality is rare in preaxial HP (3.3% versus 77.7% of right unilaterality) and remarkable in OTHERL (54.2%). Bilaterality is greater in preaxial FP (64.8%) and strongly marked in HFP, which accounts for 72% of hands and 80% of feet. There is a slight global dominance of males in all forms. The existence of FAANT is higher in OTHERL in the hand (45.7% versus 34.4% in preaxial) and in preaxial of the foot (45.9% versus 25% in OTHERL), being very high (48%) in HFP. The coexistence with other malformations, either in the hand or foot, is higher in OTHERL.

Child↗
PubMed1995

Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly.

The unclear pattern of inheritance of postaxial polydactyly prompted this search for evidence of imprinting or change of expression in males and females using material of the Latin American Collaborative Study of Congenital Malformations. The frequency of affected offspring for 196 fathers with polydactyly was compared with that for 233 mothers with the same condition, stratified according to African and non-African ancestry. The postaxial polydactyly prevalence rate among the offspring of affected black fathers (44%) was larger than that in the group of affected black mothers (31%), with no difference between affected nonblack fathers (34%) and affected nonblack mothers (33%). The sex ratio (.51) observed in 631 black propositi and in 829 nonblack propositi with polydactyly (.58) could be a further indication of etiologic heterogeneity for polydactyly between these two ethnic groups. The segregation distortion in favor of affected among the offspring of affected black fathers could be interpreted as the effect of a sex-linked recessive modifier gene acting during gametogenesis on an autosomal dominant polydactyly gene, this modifier being more frequent in Africans.

Adult↗
PubMed1993

[Polydactyly in 26,670 consecutive births. The clinical characteristics, prevalence and risk factors].

OBJECTIVE: The purpose of the study is to determine the prevalence of polydactyly, its clinical characteristic and its association with some risk factors. MATERIAL AND METHODS: A retrospective, case-control study, of 45 newborn with polydactyly and their controls, in 26,670 consecutive births in the Nuevo Hospital Civil de Guadalajara, with 20 weeks or more of gestational age, and birth weight greater than 500 g, since November of 1988 to October of 1992. The information were obtained from the database of the Congenital External Malformation Register, carried out by the University of Guadalajara. The prevalence of polydactyly was obtained and clinical characteristic were documented. Continuous variables were compared using t Student test. For discrete variables, analysis were carried out using X2 test and the odds ratio. RESULTS: The prevalence of polydactyly was of 1.73 x 1,000 alive newborn. The polydactyly of the hands in 26 newborn; preaxial in five and 21 was postaxial. The polydactyly in the foot was present in 19 newborn. The only statistics differences with control group were: low length and the antecedent of other malformation in the family. CONCLUSION: The found prevalence is different to the one informed in the literature. The association with antecedent of another malformation in the family, support the role of hereditary factors in etiology.

Case-Control Studies↗
PubMed1997

Polydactyly of the foot: manifestations and treatment.

Polydactyly of the foot is not an uncommon foot problem. However, it is not well understood and not often reported. Its clinical manifestations vary, as do treatment methods and results. During the period of 1979 to 1994, 54 children with polydactyly of 65 feet were treated in our clinic. Bilateral involvement was seen in 11 patients, and six had accompanying polydactyly of the hand. By Blauth and Olason's classification, duplication of the fifth ray (43 feet) was most common, followed by first ray duplication (20 feet) and other ray duplication (2 feet). A rudimentary form was found in one foot. Polysyndactyly was present in 18 feet. Hallux varus was the most common associated problem and was present in seven feet. Surgery for both cosmetic and functional purposes was performed in 38 patients (44 feet). Treatment included excision of the extra toe and reconstruction of the soft tissue around the remaining toe, of which the alignment was restored in cases of deviation. Results were evaluated with Phelps-Grogan's protocol; 39 feet (88%) were classified as having excellent results, two (5%) had good, and three (7%) had poor results. Postoperative complications included residual hallux varus in three feet with polydactyly of the first ray, and unpleasant surgical scars in another two. We conclude that polydactyly of the foot should be treated individually, depending on classification. Special attention should be paid to complex first ray polydactyly.

Adolescent↗
PubMed1980

Polydactyly in Japan.

The author has studied 194 cases of polydactyly in the Japanese, and found 87% of the cases to be preaxial polydactyly. Preaxial polydactyly differed from postaxial polydactyly in many points. In preaxial polydactyly, the more proximal the level of bifurcation, the more frequent was the complication by a brachymesophalangy 5. Hypoplasia of the thenar muscles, while also varying with the level of bifurcation, was more closely connected with the presence of triphalangism. In almost all cases of preaxial polydactyly, the apical ectodermal ridge may be the site of pathogenesis.

Abnormalities, Multiple↗
PubMed2003

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.

BACKGROUND: RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, congenital heart defect (CHD), postaxial polydactyly, and 2-3 toe syndactyly. CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated. METHODS: We report on an additional patient with RSH/SLOS presenting with complete AVCD and anomalous pulmonary venous return, and discuss the possible relationship of the Sonic Hedgehog (SHH) pathway as causative factor of these CHDs and those in heterotaxia patients with postaxial polydactyly syndromes. RESULTS: Anatomic similarities between heterotaxia and CHDs of several syndromes with postaxial polydactyly have been noted previously, considering the frequent association of AVCD with common atrium in these conditions. It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway. Cholesterol has a critical role in the formation of normally active hedgehog proteins. It could be hypothesized that specific types of CHDs in RSH/SLOS can be caused by modifications of the SHH protein related to the defect of cholesterol biosynthesis. CONCLUSIONS: The specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD +/- common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. Perturbations in different components of the SHH pathway could lead to several developmental errors presenting with partially overlapping clinical manifestations.

Consanguinity↗
PubMed1999

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.

Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a detailed physical map of the preaxial polydactyly candidate region. With a combination of methods we identified and positioned 11 transcripts within this map. By recombination analysis on families with preaxial polydactyly, using newly developed polymorphic markers, we were able to reduce the candidate region to approximately 450 kb. The homeobox gene HLXB9, a putative receptor C7orf2, and two transcripts of unknown function, C7orf3 and C7orf4, map in the refined candidate region and have been subjected to mutation analysis in individuals with preaxial polydactyly.

Base Sequence↗
PubMed2006

Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly.

Polydactyly is a common malformation of vertebrate limbs. Preaxial polydactyly (PPD) has been mapped in human, mouse and chicken to the syntenic region of human 7q36. Lmbr1 was thought as the critical candidate gene for human and mouse PPD. To understand the molecular mechanism underlying chicken polydactyly, we have cloned the open reading frame (ORF) of chicken Lmbr1, which contains 1467 nucleotides. Within this ORF, we found one short and one long splice forms. The short splice form has a complete deletion of exon 4. Six cSNPs were found in the chicken ORF, and two of these cSNPs, G797A and G1255A, lead to amino acid substitutions. However, G797A substitution had no significant association with polydactyly and the G1255A substitution had very low frequency in the population. The T1254C polymorphism in exon 13 was found to be strongly associated with polydactyly. Radiation hybrid mapping of a DNA fragment containing intron 13 of the chicken Lmbr1 assigned the gene to chromosome 2 between MCW071 (a marker within the EN2 gene) and ADL0270, a syntenic region to human 7q36.

Alleles↗
PubMed2001

Polydactyly of the feet in children: suggestions for surgical management.

Polydactyly is the commonest congenital deformity of the foot, presenting as a range of defects from minor soft tissue duplications to major bony abnormalities. There is a relative paucity of information on the management of this condition in the literature compared to that concerning polydactyly of the hand. We present a consecutive series of 34 cases of polydactyly of the foot in 25 patients treated surgically at our unit and these are classified according to the protocol described by Blauth and Olason. We emphasise the importance of preoperative classification using radiographs and an individualised surgical approach giving consideration to aesthetic and functional outcome. In the literature a number of authors have expressed the view that in polydactyly of the fifth ray of the foot the most lateral digit should always be excised irrespective of whether this is the more fully formed digit. We believe this should not always be the case and we describe two cases of polysyndactyly where the more medial element of a fifth-ray polydactyly was excised to allow for better maintenance of the contour of the foot. This involved more complex surgery than excision of the lateral element but gave a superior cosmetic and functional result.

Abnormalities, Multiple↗
PubMed1998

Complete digital duplication: a case report and review of ulnar polydactyly.

An unusual case is presented of bilateral, complete digital duplication on the hand of a 9-month-old boy. Radiographic evaluation showed duplication of intact phalanges and metacarpals. Although ulnar polydactyly has been described as one of the most common congenital anomalies of the extremities, it usually manifests itself as a rudimentary skin tag. Ulnar polydactyly can be classified on the basis of genetic, morphologic, and clinical implications. Although polydactyly is reported to occur among approximately 1 in 1000 live births, most of these malformations are rudimentary skin tags. Complete ulnar polydactyly is uncommon; it occurs among approximately 0.014% of all live births. The main goal of surgical treatment of patients with complete-duplication ulnar polydactyly is to establish adequate function. This case report describes the preoperative evaluation and management of complete bilateral duplication of the ulnar digits of the hand.

Fingers↗
PubMed1998

Polydactyly and psychosis. Five cases of co-occurrence.

BACKGROUND: Abnormalities presumed to occur during foetal life have been associated with schizophrenia. Polydactyly is a developmental abnormality but no previous association has been reported between polydactyly and functional psychotic illness. METHOD: Individuals with both polydactyly and a functional psychosis were ascertained during a study of familial schizophrenia. RESULTS: Five such individuals were ascertained in the course of assessing 234 individuals with familial psychosis, giving a rate of polydactyly in the sample of around 10 times the general population rate. CONCLUSIONS: This study provides preliminary evidence that polydactyly is over-represented in individuals with familial schizophrenia and related psychotic illnesses.

Adult↗
PubMed1999

Thumb/hallux duplication and preaxial polydactyly type I.

It was recently shown that hand postaxial polydactyly differed from foot postaxial polydactyly. The aim of this work was to test whether thumb and hallux duplication also had different clinical and epidemiological characteristics, depending on limb involvement. We studied 920 newborn infants with first digit duplication, ascertained among 3,444,374 births by the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), from 1967 to 1995. Since biphalangeal thumb duplication or hallux duplication can occur in families with triphalangeal thumb or polysyndactylous propositi, these groups were also analyzed. The 715 isolated (nonsyndromal) cases (prevalence 2.08 per 10,000) were subdivided into five groups: thumb duplication (N = 568; prevalence: 1.65/10,000); hallux duplication (N = 82; prevalence: 0.24); thumb and/or hallux duplication plus syndactyly (polysyndactyly) (N = 37; prevalence: 0.11); triphalangeal thumb (N = 24; prevalence: 0.07), and thumb duplication plus hallux duplication (N = 4; prevalence: 0.01). Both thumb and hallux duplication groups showed a significant excess of males, and right sidedness was also more frequent in both of them, though without statistical significance for hallux duplication. Thumb duplication was more often unilateral (94.7% versus hallux duplication of 81.5%), and its prevalence was higher in Bolivia (3.37/10,000) than in the other 10 Latin-American countries included (1.62/10,000). In a subseries of 405 preaxial polydactylies with matched controls, a logistic regression analysis showed that birth weight and gestational age had an effect on the calculated risk of having an infant with thumb duplication, while first trimester vaginal bleeding had only a borderline effect. None of the polydactyly groups showed abnormal values for twinning, perinatal mortality, ethnicity, maternal education, parental ages, parity, parental subfertility, or consanguinity. There were 70/405 familial cases. Their pedigrees were compatible with autosomal dominant inheritance with a 9% penetrance for thumb duplication and hallux duplication and a 70% penetrance for triphalangeal thumb and polysyndactyly. Inheritance of thumb duplication and probably the untested inheritance of hallux duplication were also compatible with a four-locus multiplicative model. The observed differences in laterality, geographical distribution, birth weight, gestational age, and first trimester vaginal bleeding between thumb duplication and hallux duplication groups suggested that apparent preaxial polydactyly type 1 is a causally heterogeneous group.

Birth Weight↗
PubMed1996

Genetic aspects of polydactyly.

The early limb development follows the similar pattern in all vertebrates since different species develop using the same regulatory genes in the formation of the body plan. Some of these genes remained well conserved during evolution and can be traced back as far as Drosophila--while some others changed their structure or developed new functions. This is why the limbs from different animals still look different from one another. However, all existing tetrapods have, like Homo Sapiens, limbs with five, or fewer digits. It has been argued that the interplay of the factors controlling the patterning and differentiation during the embryonal limb development can provide five distinct "genotypes" allowing development of only five different digits. This would imply that the Greek definition of polydactyly, namely "duplication of the finger or a part of it", is correct, not only in morphological but also in a genetical sense. Genes involved in the determination of the outline of the limb are candidates for disorders like polydactyly and syndactyly. Recently, we have localised the gene for triphalangeal thumb (TPT) on chromosome 7q. As almost 50% of our patient population also had rudimentary postaxial polydactyly and/or syndactyly, the interesting question arose whether the TPT gene also was responsible for isolated post-axial polydactyly. Our preliminary evidence suggests, however, that different gene(s) are involved in the pathomorphogenesis of postaxial polydactyly. Studies of human congenital hand malformations--combined with genetic studies in lower vertebrates--will help us to understand not only the molecular basis of these disorders, but also to get insight into the fascinating mechanisms involved in the normal development of the human hand.

Animals↗
PubMed1985

Spontaneous and retinoic acid-induced postaxial polydactyly in mice.

A spontaneous postaxial polydactyly, similar to type B in humans, was found in a partially inbred ICR mouse strain. The supernumerary digit could be detected grossly as early as day 14 of gestation. The incidence of polydactyly decreased with increasing gestational age. All-trans retinoic acid (RA) administered on day 10 or 11 of gestation, but not on day 9, increased the incidence of polydactyly at each gestational day examined. The day 18 levels of polydactyly were greatest after day 10 treatment. No clear dose-response relationship was observed in term fetuses following treatment on day 9, 10, or 11. RA administered on day 10 produced extra digits which were morphologically more advanced than those in the untreated controls. RA, given to the inbred C57B1/10 strain, produced low levels of polydactyly if administered on day 9, but not on day 10 or 11. F1 embryos, from reciprocal crosses between the two strains, were intermediate in response to RA. On day 14, cell death in the postaxial marginal mesoderm was apparent in all protopolydactylous embryos examined, whether treated or untreated. The supernumerary digits varied in size on day 14. The smaller digits appeared to be filled with necrotic mesodermal cells, whereas the larger digits had a necrosis-free area. The size of the extra digit on day 14 seemed to be the most important factor in the persistence of the digit until day 18.

Abnormalities, Drug-Induced↗