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PubMed1994

Phenotypic analysis of triphalangeal thumb and associated hand malformations.

Triphalangeal thumb (TPT), a long, finger-like thumb with three phalanges instead of two, is regarded as a subtype of preaxial polydactyly. It can occur as a sporadic disorder, but is more often seen as a dominant familial trait. We describe four white Dutch families in which triphalangeal thumb has variable expression and is sometimes associated with preaxial extra rays, rudimentary postaxial polydactyly, cutaneous syndactyly of the hands, and, rarely, postaxial polydactyly and syndactyly of the feet. A comparison with similar familial conditions reported during the past 10 years is provided. The potential significance of linkage and molecular genetic analysis for better insight into the pathogenesis of complex hand malformations is discussed.

Adult↗
PubMed2002

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. No diagnostic cytogenetic abnormalities have been documented in affected patients, and no molecular genetic studies have been reported. We have reviewed 117 cases diagnosed as Fraser syndrome or cryptophthalmos published since the comprehensive review of Thomas et al in 1986 in order to validate the published diagnostic criteria and to delineate the phenotype associated with this syndrome. Our series showed more females (57/117) than males and consanguinity was present in 29/119 (24.8%). Eighty-eight patients satisfied the diagnostic criteria for Fraser syndrome (75%). Cryptophthalmos was present in 103/117 (88%), syndactyly in 72/117 (61.5%), and ambiguous genitalia in 20/117 (17.1%). Ear malformations were recorded in 69/117 (59%), and renal agenesis in 53/117 (45.3%). Use of the published diagnostic criteria excluded several patients with cryptophthalmos and one or more physical feature(s) consistent with Fraser syndrome. The frequency of additional anomalies in our series was also higher than previously reported (for example, imperforate anus or anal stenosis were found in 34/117 (29%) compared with 2/124 (2%) in the series of Thomas et al (1986) and choanal stenosis or atresia was present in 7/117 (6%) compared to 0/124. These findings emphasise the clinical variability associated with Fraser syndrome and support genetic heterogeneity of the syndrome. We also noted patterns of anomalies (for example, bicornuate uterus with imperforate anus or anal stenosis and renal malformations) that are found in other syndromes and associations without cryptophthalmos, suggesting that common modifier genes may explain some of the phenotypic variation in Fraser syndrome.

Abnormalities, Multiple↗
PubMed1996

Ectrodactyly, ectodermal dysplasia, and cleft lip syndrome. Case report.

We describe five sporadic cases of the EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip). There are only a few reports of the syndrome being inherited in Japan. Two of the five patients had genitourinary anomalies and one mental retardation. Four of the five patients had clefts in the primary and secondary palate. All had deformities of the hands, polydactyly, syndactyly, and camptodactyly. Syndactyly could be a component of the syndrome.

Abnormalities, Multiple↗
PubMed1999

Filippi syndrome: report of three additional cases.

Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on three unrelated individuals with Filippi syndrome. All have microcephaly, minor facial anomalies, variable syndactyly of digits, growth impairment, and developmental delay. One patient also has polydactyly, which has not been reported previously in the Filippi syndrome.

Abnormalities, Multiple↗
PubMed2005

Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases. We report a patient with a rare form of Apert syndrome with polydactyly. The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes). The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion. Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene. Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available. On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome. This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.

Acrocephalosyndactylia↗
PubMedDate not supplied

Desyndactylization: a unique case report.

Syndactylism is a congenital or acquired anomaly in which there is persistence of webbing between adjacent digits. It occurs in 1:2000 to 1:2500 live births, three times more commonly in males, and most often between the middle and third fingers. In the foot, syndactyly involves the second and third toes most frequently. Generally, this is thought of as a cosmetic condition when associated with the toes of the foot, as this usually causes little functional loss. The authors present a unique case report of syndactyly of the hallux and second toe in a 66-year-old black female and its surgical repair for painful hammertoe deformity.

Aged↗
PubMed1975

[Critical considerations of various surgical methods for correction of the syndactylia (report on an observation period of 10-20 years)].

During the postoperative period of 10 to 21 years 58 syndactylies in 45 hands of 30 patients were followed-up with special attention to alternations due to growth. These were prevented in the majority of the patients, if the skin cover for the commissure was done by both a dorsal and palmar triangular skin flap and for the side areas of the fingers by several transversely oriented full thickness skin grafts, separated by bridges of the finger skin. In none of the 37 syndactylies in which this procedure was performed, was a corrective operation necessary at the end of the growth period. These results harmonize with previous follow-up studies (MILLESI 1964). The observations of these patients for an additional 10 years have not shown any alterations due to growth.

Adolescent↗
PubMed1977

[Inheritance characteristics of syndactylia].

On the basis of the analysis of 39 pedigrees with syndactylies it is concluded an autosomal dominant mode of the inheritance with incomplete penetrance. The variability of penetrance is more pronounced in females who are frequently healthy carriers of the gene transmitting it to both sexes. The significant prevalence of males in syndactylies can be explained by deathes of female embryos in utero, the sex ratio in healthy sibses being normal.

Chromosome Aberrations↗
PubMedDate not supplied

Desyndactyly: a literature review.

An historical review of the literature dating from the early 1800s to the present reveals numerous methods that have been reported for the repair of syndactyly. This paper presents descriptions and diagrammatic illustrations of selected surgical procedures. Surgical intervention with the use of skin flaps to repair syndactyly almost always results in deficiency of skin. Either full thickness or porcine skin grafts to cover the adjacent sides of the desyndactylized digits generally should be used to avoid the postoperative complications inherent with the isolated use of skin flaps.

Humans↗
PubMed1989

[Expressivity of familial forms of Fraser syndrome].

Two new cases of the Fraser syndrome are presented. The literature review indicates that the clinical expression inside families is very constant with regard to cryptophthalmos, syndactyly or internal malformations. Particularly the fatal issue of severe forms is regularly constant in each of the families recently reported with a detailed autopsy. These conclusion would change the genetic counseling. A lethal form of the disease would recur in the same manner and could be detected by exhibiting the genito-urinary malformations at ultrasonography or even the syndactyly at foetoscopy.

Abnormalities, Multiple↗
PubMed1988

Cleft hand without absence of a finger.

Cleft hand implies a central longitudinal defect. In this paper, six cases of cleft hand with a normal number of digits are reported. Such clefts are less severe than those in which fingers are missing. In our cases, associated anomalies of the upper extremities were cutaneous syndactyly and a more severe cleft hand with an absent finger. Those of the lower extremities were polydactyly, syndactyly, and cleft foot. The clinical features of cleft hand with a normal digital count were similar to those with a missing finger. It is supposed that the teratogenic mechanism of such cleft hands are the same that is the failure of separation of finger rays. Cone shaped cleft of the hand is one of the phenotypes of the anomaly caused by the failure of differentiation of finger rays.

Female↗
PubMed1985

[Clinical and roentgenological study of the hands in synbrachydactyly, constriction band syndrome and cleft hand complex].

One hundred and six cases of synbrachydactyly, 63 cases of constriction band syndrome and 69 cases of cleft hand complex were clinically and roentgenologically studied and the following results were obtained. Synbrachydactyly is a group of hand anomalies in which the bone reduction appears transversely, and its severest form is a hand missing all the hand bones and the distal portion of the forearm, and with rudimentary digits on the stump. The association of dermal syndactyly or pectoralis muscle defect frequently seen in the milder cases of synbrachydactyly would be a secondary change to mesodermal hypoplasia or a related, but isolated malformation. Cleft hand complex which includes ordinary cleft hand, central ray polydactyly and central ray osseous syndactyly is a group of hand anomalies basically due to an ectodermal abnormality of separation of the digits. However, it is frequently associated with mesodermal hypoplasia or defect of various severity. The hand malformation in constriction band syndrome has a definite characteristic that the area of bone reduction is limited in phalanges.

Female↗
PubMed1981

Diploid-triploid mixoploidy: clinical and cytogenetic aspects.

A patient with 46, XY/69,XXY mixoploidy (a mixture of cell populations whose component cells differ in their chromosome numbers, irrespective of whether these numbers are euploid or aneuploid) who had some clinical manifestations of the Russell-Silver syndrome is reported. Triploidy results in a clinically recognizable lethal syndrome with hydatidiform placental changes, severe intrauterine growth deficiency, dysplastic cranial bones, eye defects, cleft lip and/or, palate malformed ears, micrognathia, syndactyly, genital anomalies and, rarely, spina bifida. Less severe are instances of diploid-triploid mixoploidy and patients are more likely to survive; one of these patients was detected at birth because of asymmetric growth deficiency with syndactyly. Cytogenetic and flow cytometric studies demonstrated absence of triploid cells in peripheral lymphocytes while varying proportions of triploid cells were found in fibroblast cultures derived from each limb. The triploid cell population disappeared with prolonged cell culture. Replication studies with 5-bromodeoxyuridine-DAPI fluorescence revealed two active X chromosomes, and marker chromosomes suggested a paternal origin for the extra haploid set. The following points are emphasized: (1) diploid-triploid mixoploidy can be suspected clinically; (2) the triploid cell population may not be detectable on examination of peripheral blood (3) the relative degree of asymmetry in the growth deficiency does not appear to relate to the proportion of triploid cells; and (4) both X chromosomes may remain active in the presence of an extra haploid set of chromosomes.

Abnormalities, Multiple↗
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↗
PubMed1997

Evidence for genetic anticipation in the oculodentodigital syndrome.

Oculodentodigital syndrome (O.D.) is an autosomal dominant disorder comprising facial anomalies, syndactyly, microcorneae, dental enamel hypoplasia, and leukodystrophy. We describe a four generation family with O.D. in which anomalies such as syndactyly appear congenitally, whereas neurological (i.e., leukodystrophic) signs and symptoms tend to be expressed in a more severe form and/or at an earlier age of onset in successive generations of the kindred. This pattern of phenotypic expression is consistent with the phenomenon of genetic anticipation, and we suggest that O.D. may be a trinucleotide repeat disorder.

Abnormalities, Multiple↗
PubMed1997

The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family.

We report two siblings--a 5 1/2 year old female and her 4 1/2 year old brother, both presenting the classical clinical findings of oculo-dento-digital dysplasia (ODD). 1. Digital anomalies: bilateral complete cutaneous syndactyly of fingers IV-V (III-IV-V at the left hand of the boy) and camptodactyly IV. 2. Facial and ocular anomalies: microphtalamos-epicanthal folds, small midfacies, thin nose with hypoplastic alae nasi and small nares. 3. Dental anomalies with partial dental agenesis and enamel hypoplasia. Examination of the parents showed a bilateral cutaneous syndactyly IV-V in the father as the sole partial manifestation of ODD. The findings in the present family confirm the autosomal dominant inheritance of ODD with great variability in clinical expression. Moreover, the facial morphology (thin, hypoplastic nose) observed in several ODD patients suggests nosological overlap with the Hallerman-Streiff syndrome and could indicate that both syndromes are variable expressions of a contiguous gene deletion syndrome.

Abnormalities, Multiple↗
PubMed1997

On the nosology of the craniodigital syndromes: report of a family and review of the literature.

During a systematic survey for genetic causes of mental retardation in schools for adolescents with learning problems we had the occasion to examine a 16-year-old moderately mentally retarded boy with facial dysmorphism, short stature, relative microcephaly, complete cutaneous syndactyly of fingers III/IV and of toes II/III. Partial clinical manifestations (low to subnormal intelligence and syndactyly) were present in his mother and sister. We discuss the nosology and differential diagnosis of the craniodigital syndromes.

Adolescent↗
PubMedDate not supplied

Cleft-foot closure: a simplified technique and review of the literature.

The purpose of this article is to present a simplified technique to close the cleft in the feet of children affected with congenital clefts. This technique evolved after several frustrating attempts to close the cleft with mediocre results by using triangular flaps. This report concerns nine children with 15 feet. We describe a simplified technique for cleft closure to narrow the feet. One of the children had an associated syndactyly of the foot, and two others had syndactyly of the hands. No other associated anomalies were present in these children. We operated on seven patients with a total of 42 operations. The feet with the clefts that were repaired by rectangular flaps maintained good cosmesis and function.

Child↗