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At least 19 recordsLinked to original sources
PubMed1998

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. The characteristic features of these severe cases are (1) complete syndactyly and synostosis of the third and fourth fingers; (2) severe bone reduction in the proximal phalanges of the same fingers; (3) hypoplasia of the thumbs and halluces; (4) aplasia/hypoplasia of the middle phalanges of the second and fifth fingers; and (5) complete or partial soft tissue syndactyly of the toes. We report on three offspring with this phenotype from two different branches of a syndactyly type I family, suggesting that they may be homozygous for this condition. SSCP and linkage analysis indicated that neither HOXD13 nor other relevant genes in the chromosome 2q31 region was responsible for this phenotype.

Child, Preschool↗
PubMed2003

Two unusual types of syndactyly in the same family; Cenani-Lenz type and "new" type versus severe type I syndactyly?

Cenani-Lenz syndactyly is a very rare syndrome where the syndactyly is totally disorganized with abnormal development of pattern formation of the hand. We report here an additional case of Cenani-Lenz syndactylism in a woman who has congenital cataract and an unusual type of duplication of big toes not described so far. She had a half cousin who had an unusual new type or severe type I syndactyly. It is not clear whether these two types of syndactyly present in this family may be coincidental or not.

Adolescent↗
PubMed2005

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.

There is good evidence from the medical literature that type I syndactyly, the most common form of the nonsyndromic syndactylies, is clinically heterogeneous. We therefore propose to group the condition into four subtypes, which are all autosomal dominantly inherited. Subtype 1, zygodactyly (cutaneous webbing of second and third toe without hand involvement) is the mildest and most common form. The phenotype varies from unilateral minor impression of webbing to bilateral complete webbing of second and third toe including a fusion of nails. Bony involvement is never observed. Subtype 2 is characterized by bilateral cutaneous and/or bony webbing of third and fourth finger, and second and third toe. The phenotype maps on chromosome 2q34-q36 and was designated as SD1 (ie syndactyly 1). The hallmark of subtype 3 is bilateral cutaneous or bony webbing of third and fourth finger, while subtype 4 shows bilateral cutaneous webbing of fourth and fifth toe. Both, subtype 3 and 4, are rare entities. Here, we present clinical and molecular data of a large Pakistani family with zygodactyly that was mapped to a new locus on chromosome 3p21.31 by genome-wide linkage analysis. The highest LOD score (Zmax=3.38) was obtained with microsatellite marker D3S2409. The disease interval is flanked by markers Chr3_4919 and Chr3_4940 encompassing about 0.20 Mb. Since the same phenotype appears not to be linked to this locus in a German family, we predict genetic heterogeneity in zygodactyly and propose to designate the 3p21.31 locus as ZD1 (i.e., zygodactyly 1).

Chromosome Mapping↗
PubMed1997

Syndactyly repair performed simultaneously with circumcision: use of foreskin as a skin-graft donor site.

A boy who had simple syndactyly involving the third web space of the left hand presented for elective syndactyly repair. Circumcision had been delayed because of neonatal medical problems. Elective syndactyly repair and circumcision were performed in one operation at age 9 months. Penile foreskin was used as a full-thickness skin graft for the syndactyly repair. The foreskin provided a functional syndactyly repair with good aesthetic characteristics. This obviated the need for two separate operations and for an additional skin graft donor site. To our knowledge, this is the first reported case in which foreskin was used for the repair of syndactyly. In boys with syndactyly, the authors advocate that parents be informed of this reconstructive option. Should the parents consider it to be suitable, then elective circumcision should be delayed until the time of syndactyly repair so that foreskin may be used for the syndactyly repair.

Circumcision, Male↗
PubMedDate not supplied

A comparison of patients with different types of syndactyly.

We performed a retrospective review of finger syndactyly releases at Shriners Hospital for Children, Houston Unit, between January 1983 and January 1993. This study was performed in an attempt to compare the long-term postoperative function in patients after release of syndactyly resulting from Poland's syndrome with that in patients with idiopathic forms of syndactyly. Only patients with one involved hand were included in this study. The contralateral hand was used as a control. Twenty-seven patients with only one hand involved underwent syndactyly release during this period. Of these, 13 patients who underwent a total of 30 syndactyly releases were available for evaluation. For each patient, the type of syndactyly was determined. Each patient was subjected to a detailed physical examination and participated in occupational-therapy modalities. We noted statistically significant differences in function between operated-on and control hands in the Poland's group, whereas operated-on hands affected with idiopathic forms of syndactyly did not demonstrate significantly different function compared with contralateral controls. These data suggest that functional deficits in hands affected by Poland's syndrome are attributable to more than the syndactyly alone. Hands affected by idiopathic forms of syndactyly are likely to have little postoperative functional deficit.

Child↗
PubMed1980

Syndactyly: frequency of specific types.

Syndactyly without other combined limb anomalies, Poland complex, or amniotic bands, was diagnosed in 174 of 599, 109 consecutive newborn infants (3/10,000). Syndactyly was the only diagnosed anomaly in 133 cases, and it was associated with other anomalies in 41. The most common type of syndactyly was isolated syndactyly of the second and third toes (70 cases), which affected more males than females, and had a higher than expected frequency of white non-Latin-European ancestry. The second most frequent type was isolated syndactyly of the middle and ring fingers (18 cases), and the third was isolated syndactyly of the fourth and fifth toes (13 cases). Considering both isolated and syndromal cases, 66% (114/172) could be assigned to one or another of the fourth genetic categories of syndactyly described by Temtamy and McKusick [1978]. This, plus the high frequency of affected first degree relatives observed (25/434:6%), suggests that the genetic forms of syndactyly may be more common than might be suspected from the small number of pedigrees in the literature.

Black People↗
PubMed2004

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio-ulnar fusion. Here, we present a Pakistani family with a novel non-syndromic autosomal recessive syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani-Lenz syndactyly, the phenotype segregating in our family is the second well-documented autosomal recessive, non-syndromic syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I syndactyly. Since the clinical features in our family had minimal overlap with syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III.

Adult↗
PubMed1995

A new form of long QT syndrome associated with syndactyly.

OBJECTIVES: The purpose of this study was to characterize a possible association between long QT syndrome and syndactyly. BACKGROUND: Long QT syndrome causes syncope and sudden death from ventricular arrhythmias. Syndactyly is a developmental disorder that causes webbing of the hands and feet. Both disorders can be inherited as isolated, autosomal dominant traits, but an association between them has not been established. METHODS: We identified three children with long QT syndrome, atrioventricular (AV) block and simple syndactyly. Phenotypic and laboratory data were obtained from families, attending physicians and medical records. RESULTS: All patients had bilateral cutaneous syndactyly and were diagnosed with long QT syndrome within the 1st 2 years of life. Structural heart disease, particularly a patent ductus arteriosus, was present in all three patients. Analysis of electrocardiograms showed marked prolongation of the QT intervals with rate-corrected QT intervals of 633, 628 and 680 ms, respectively. Transient AV block was also noted. Two of the three children died suddenly despite treatment with beta-adrenergic blocking agents and permanent pacing. CONCLUSIONS: We postulate that these children have a new form of long QT syndrome associated with syndactyly and a high risk of sudden death. The association of syndactyly with long QT syndrome may provide insight into the mechanisms underlying both disorders. Patients with syndactyly should be evaluated for the presence of long QT syndrome, and if it is found, aggressive treatment may be warranted.

Child, Preschool↗
PubMed1999

Hypospadiac or intact foreskin graft for syndactyly repair.

BACKGROUND/PURPOSE: Syndactyly is one of the most common malformations of the hands and feet. Repair may necessitate the use of a full-thickness skin graft. The prepuce is an excellent choice for grafting because of its lack of hair, elasticity, and degree of thickness. The authors report 4 cases of syndactyly repair using foreskin for grafting. METHODS: The authors reviewed 4 cases of syndactyly repaired at Children's Hospital, where foreskin was used for grafting. There was one congenital band syndrome and 3 cases of simple syndactyly. Three patients had a normal prepuce and underwent simultaneous circumcision. One patient presented with coronal hypospadias and underwent simultaneous meatal advancement and glanuloplasty. RESULTS: All patients experienced a satisfactory outcome with no graft loss and no complications. No grafts showed hair, and 3 grafts showed slight relative hyperpigmentation. Excess foreskin was available in all cases of simple syndactyly. Concominant hypospadias repair did not increase the morbidity of the surgery. CONCLUSION: The intact or hypospadiac foreskin is an excellent choice for a free graft in syndactyly repair when available.

Child, Preschool↗
PubMedDate not supplied

Surgical treatment of congenital syndactyly of the hand.

Syndactyly is a congenital anomaly of the hand that is more common in males, is present bilaterally in 50% of affected patients, and often is associated with other musculoskeletal malformations or systemic syndromes. The goal of syndactyly release is to create a functional hand with the fewest surgical procedures while minimizing complications. For simple syndactyly, surgical reconstruction can begin at approximately 6 months, although many surgeons prefer to wait until the infant is 18 months old. Special situations, such as complex syndactyly and involvement of border digits, may warrant surgical intervention earlier than 6 months. Reconstruction of the web commissure is the most technically challenging part of the operation, followed by separation of the remaining digits. Full-thickness skin grafting is almost always required for soft-tissue coverage. Complex syndactyly and syndactyly associated with other hand anomalies warrant special consideration. After reconstruction, patients should be examined periodically until they have achieved skeletal maturity because late complications such as web creep can occur.

Hand Deformities, Congenital↗
PubMed1978

Congenital syndactyly: a reappraisal.

Digital syndactyly is a common congenital anomaly and is associated with other anomalies affecting the digits, the hand, the arm or even the entire body. In the past it has been considered a single entity. However, recent information provided by experimental embryology, studies of morphogenesis and other sources, suggests that there are at least two distinct entities: primary syndactyly due to interference with the sequence of events that normally culminate in the division of digits into discrete parts and secondary syndactyly due to readhesion of adjacent digits as a result of close contact between raw surfaces. Primary syndactylyl may arise de novo, or it may occur as a manifestation of a mutation phenomenon or as a genetically controlled syndrome. Secondary syndactyly is the result of mechanical adhesion of adjacent parts involved in a general reparative or healing process. The initial insult leading to amputation of a portion of the digits may or may not be genetically controlled; adhesion is fortuitous. Management of syndactyly is determined by the complexity of the malformation. For simple cutaneous syndactyly the surgeon should make a zigzag incision and provide a rectangular, proximally based flap for the floor of the web, usually before the child is 2 years of age. A full- or split-thickness skin graft should be applied to the defects. For complex deformities involving several digits and associated with postural or osseous malformation, several operative procedures may be required. The surgeon must be vigilant to note and correct the sequelae resulting from recurrent contractures and imbalances associated with growth.

Humans↗
PubMed2005

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

Previously we have described a novel and distinct form of non-syndromic osseous syndactyly segregating in an autosomal recessive pattern in a consanguineous Pakistani family. The limb findings include mesoaxial reduction of the fingers, synostoses of the third and fourth metacarpals with associated single phalanges, fifth finger clinodactyly, and preaxial webbing of toes. We identified another published report of this phenotype in a large, inbred Turkish family. In the present study we mapped the phenotype in the Pakistani and Turkish families to chromosome 17p13.3 (multipoint LOD score 5.1). The identification of a single locus for this complex limb malformation in two families with distinct ethnic backgrounds supports the hypothesis that this is a distinct form of syndactyly. Since this form of syndactyly is phenotypically distinct from the previously described eight types, we propose to name this phenotype mesoaxial synostotic syndactyly with phalangeal reduction (MSSD, type IX syndactyly, Malik-Percin type).

Abnormalities, Multiple↗
PubMed2003

Treatment of acquired syndactyly by gauze-fixed epidermal graft after radiosurgery.

BACKGROUND: Acquired syndactyly is a rare disease that occurs mostly after disease, trauma, or other inflammatory conditions. It is usually treated by surgical incision with a flap or full-thickness skin graft, which is very invasive and requires hospitalization. OBJECTIVE: The objective was to treat acquired syndactyly with an epidermal graft by suction blister after radiosurgery, because this procedure is much less invasive and can be performed in an outpatient base. METHODS: A 65-year-old Korean woman had acquired syndactyly after various traditional treatments for tinea pedis. Five days after separation of syndactyly with radiosurgery, we prepared an epidermal sheet by suction blister, placed it on sterile meshed gauze, and applied it to the separated lesion. RESULTS: The patient's lesion was completely healed after 7 days. CONCLUSION: Gauze-fixed epidermal graft after radiosurgery is a very effective and simple treatment for shallow acquired syndactyly.

Aged↗
PubMed2004

Absorbable sutures help minimise patient discomfort and reduce cost in syndactyly release.

Many surgeons hesitate to use absorbable suture material to correct syndactylies because they fear that it may induce hypertrophic scarring and compromise the outcome functionally and aesthetically. In a series of 25 syndactylies all sutures were carried out using an absorbable, multifilament polyglactin suture material (Vicryl Rapid, Ethicon). A good result with no functional impairment and a natural looking commissure was achieved in 20 syndactylies. 4 syndactylies had a fair result with no functional impairment but with certain aesthetic deficits such as a slightly hypertrophic scar in 2 and a hyperpigmentation of the skin graft in 2. One patient had a poor result with hypertrophic scars that were responsible for temporary flexion contractures. No patient needed to be reoperated. This case series demonstrates that good results can be achieved using absorbable sutures for syndactyly release. Children and parents appreciated the fact that no stitches had to be removed. Secondary anaesthesia for suture removal with its inherent risks and cost was not necessary.

Absorbable Implants↗
PubMed1995

In vitro model of syndactyly replicates the morphologic features observed in vivo.

Syndactyly is a common congenital hand anomaly that may occur after exposure to teratogens. We have developed an in vitro model of syndactyly to investigate the molecular mechanisms underlying this malformation of digit development. Retinoic acid, which regulates pattern formation in vertebrate limb development and is associated with teratogenic malformations, was used in the development of this syndactyly model system. Pregnant Swiss-Webster mice were given retinoic acid by oral gavage on days 10 and 11 of embryonic development (E10 and E11, respectively). The mice were sacrificed on gestational days 13 and 17 (E13, E17) and immediately postnatally (PN). The fetuses were removed and the forelimbs dissected under the operating microscope. The E13 limbs were cultured for 4 days (E13+4) in an organ culture system using a serumless, chemically defined medium. The E17, PN, and E13+4 forelimbs were critically examined for malformations of digit separation and digit development. Retinoic acid-induced fetal mouse forelimb syndactyly was observed in all the groups; 81 percent of E17 limbs, 75 percent of PN limbs, and 77 percent of E13+4 limbs had syndactyly. The morphology of the digital malformations was similar in the E17, PN, and E13+4 limbs. This in vitro model permits further studies to characterize the molecular changes that occur during the development of a congenital hand anomaly.

Animals↗
PubMed2004

Keloid formation after syndactyly reconstruction: associated conditions, prevalence, and preliminary report of a treatment method.

PURPOSE: The purpose of this study is 3-fold: to review our cases of keloid formation after syndactyly release, to report a clinical association between primary enlargement of the digits and risk of keloid formation, and to report treatment using low-dose, short-term methotrexate as an adjunct to revision surgery. METHODS: A retrospective review of patients identified with keloid formation after syndactyly reconstruction showed associated enlargement of the involved digits. A search of medical records for cases in which both syndactyly and digital enlargement occurred was carried out. Charts and images, where available, were reviewed for information about age, gender, involved site, associated conditions, and treatment. RESULTS: Eight cases of keloids occurred in 1004 surgical procedures in 681 patients carried out during the 20-year period reviewed. Seven patients were white and 1 was Hispanic. Seven of the 8 had associated primary digital enlargement. Two patients who had enlarged syndactylized digits did not develop keloids after surgery. There was no family history in any case. Standard treatment (pressure, topical or intralesional corticosteroids, and re-excision) was unsuccessful in resolving the keloids. Two children treated with adjunctive methotrexate had successful treatment of their keloids and near-normal healing. Length of follow-up time after the last treatment ranged from 6 months to 11 years (average, 5.5 years). CONCLUSIONS: Primary digital enlargement is highly predictive of risk of keloid formation after syndactyly reconstruction. Very-low-dose, short-term methotrexate was successful as an adjunct to surgical treatment in 2 cases.

Child, Preschool↗