Distúrbio raro e não sindrômico de defeito de redução de membro, caracterizado por braquidactilia unilateral ou bilateral, sindactilia cutânea e hipoplasia global da mão e/ou pé, com músculos, tendões, ligamentos e ossos subjacentes sendo afetados, mas sem outras anomalias associadas dos membros. Os pacientes geralmente apresentam dedos das mãos e/ou pés curtos, rígidos, palmados ou ausentes, que são frequentemente substituídos por pequenos cotos (protuberâncias) com unhas residuais.
Introdução
O que você precisa saber de cara
Distúrbio raro e não sindrômico de defeito de redução de membro, caracterizado por braquidactilia unilateral ou bilateral, sindactilia cutânea e hipoplasia global da mão e/ou pé, com músculos, tendões, ligamentos e ossos subjacentes sendo afetados, mas sem outras anomalias associadas dos membros. Os pacientes geralmente apresentam dedos das mãos e/ou pés curtos, rígidos, palmados ou ausentes, que são frequentemente substituídos por pequenos cotos (protuberâncias) com unhas residuais.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Simbraquidactilia das mãos e pés
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Publicações mais relevantes
Technique of Nonvascularized Second Metacarpal Transfer in the Treatment of Symbrachydactyly.
Various surgical techniques have been utilized for thumb reconstruction in the setting of aphalangia. Given abnormal proximal anatomy, nonvascularized toe phalangeal transfer has been a popular surgical technique in a subset of patients with monodactylous symbrachydactyly. However, altering the appearance of a noninvolved foot is often unappealing to many parents. Here we detail a surgical technique of thumb reconstruction utilizing the index metacarpal as a nonvascularized graft to improve thumb length and stability. This technique avoids the donor site morbidity associated with toe phalangeal transfer and has demonstrated good results at short-term follow-up.
Interposition arthroplasty for osteoarthritis of fifth carpometacarpal joint in a case of symbrachydactyly of hands and feet.
Correction of symbrachydactyly: a systematic review of surgical options.
Symbrachydactyly is a rare congenital malformation of the hand characterized by short or even absent fingers with or without syndactyly, mostly unilaterally present. The hand condition can vary from a small hand to only nubbins on the distal forearm. This study aims to systematically review the surgical management options for symbrachydactyly and compare functional and aesthetic outcomes.The review was performed according to the PRISMA guidelines. Literature was systematically assessed searching the Cochrane Library, PubMed, Embase, and PROSPERO databases up to January 1, 2023. Studies were identified using synonyms for 'symbrachydactyly' and 'treatment'. Inclusion criteria were the report of outcomes after surgical treatment of symbrachydactyly in humans. Studies were excluded if they were written in another language than English, German, or French. Case reports, letters to the editor, studies on animals, cadaveric, in vitro studies, biomechanical reports, surgical technique description, and papers discussing traumatic or oncologic cases were excluded.Twenty-four studies published were included with 539 patients (1037 digit corrections). Only one study included and compared two surgical techniques. The quality of the included studies was assessed using the Modified Coleman Methodology Score and ranged from 25 to 47. The range of motion was the main reported outcome and demonstrated modest results in all surgical techniques. The report on aesthetics of the hand was limited in non-vascularized transfers to 2/8 studies and in vascularized transfers to 5/8 studies, both reporting satisfactory results. On average, there was a foot donor site complication rate of 22% in non-vascularized transfers, compared to 2% in vascularized transfers. The hand-related complication rate of 54% was much higher in the vascularized group than in the non-vascularized transfer with 16%.No uniform strategy to surgically improve symbrachydactyly exists. All discussed techniques show limited functional improvement with considerable complication rates, with the vascularized transfer showing relative high hand-related complications and the non-vascularized transfer showing relative high foot-related complications.There were no high-quality studies, and due to a lack of comparing studies, the data could only be analysed qualitatively. Systematic assessment of studies showed insufficient evidence to determine superiority of any procedure to treat symbrachydactyly due to inadequate study designs and comparative studies. This systematic review was registered at the National Institute for Health Research PROSPERO International Prospective Register of Systematic Reviews number: CRD42020153590 and received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.Level of evidenceI.Systematic review registrationPROSPERO CRD42020153590. Cleft hand, otherwise referred to as ectrodactyly or colloquially as "split hand," is defined as a central longitudinal deficiency expressed as suppression of bone and soft tissues in the central elements of the hand, including the index, middle, and ring fingers. Classically, this results in a "V-shaped" cleft in the hand with a variable degree of deformity. Generally, the phalanges of the affected digits are absent, and the metacarpals are present. The deficiency is typically bilateral. These central ray deformities typically divide into "typical" and "atypical" cleft hands. Typical cleft hands are generally of a genetic origin and bilateral with the classic "v-shaped" defect. Furthermore, typical cleft hands are often associated with "cleft foot" deformities as well. Atypical cleft hands, in contrast, are a form of symbrachydactyly involving the index, long, and ring fingers, often involving an absence of the digits, syndactyly of the digits, or hypoplasia of the digits. Atypical cleft hands generally appear as more of a "u-shaped" deformity compared to the classic "v-shape." Because atypical cleft hands are generally the result of a spontaneous mutation, there are rarely associated syndromes or deformities, and the disorder is not inherited.
A Systematic Review of Vascularized and Nonvascularized Toe Transfer for Reconstruction of Congenital Hand Differences.
The aim of this study was to compare the indications, techniques, and outcomes of vascularized and nonvascularized toe-to-hand transfer surgery in patients with congenital hand differences. A systematic review was conducted according to Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. Studies containing data on indications, surgical technique, and outcomes for patients with congenital absence or deficiency of digits or thumb treated with toe-to-hand transfer were included. Failure was defined as resorption of the transfer or necrosis necessitating removal. Forty studies published between 1978 and 2020 were included. A total of 319 patients (59.7%) had vascularized transfers, 214 (40.1%) had nonvascularized transfers, and one had both (0.2%). Symbrachydactyly was the most common indication in both groups (46.3% vascularized and 45.3% nonvascularized). The most commonly transplanted toe was the second toe in the vascularized group (72.6 %) and fourth toe in the nonvascularized group (32.2%). Vascularized toe transfers were most commonly used to reconstruct the thumb (53.3%), as were nonvascularized transfers (30%). Vascular complications occurred after 6.8% of vascularized transfers, although 94.7% were ultimately successful after reoperation. Resorption accounted for most complications after nonvascularized transfers. More secondary procedures were required after nonvascularized transfers. In the vascularized group, there was a higher success rate of 98.6% (95% CI, 97.4% to 99.7%), compared with 86.8% (95% CI, 83.6% to 90%) in the nonvascularized group ( P < 0.001). study found a higher success rate in vascularized transfers. The ideal technique must be assessed on an individual patient basis, accounting for baseline hand structure, in addition to the ultimate aesthetic and functional goals.
Hypothesis: Symbrachydactyly.
The term symbrachydactyly has been used for the phenotype of two or three short fingers or toes, hypoplasia of the middle and distal phalanges and variable syndactyly of the affected digits. Some clinicians have extended this diagnosis to include other phenotypes, specifically cleft hand, terminal transverse limb defects, hypoplasia of the thumb and fifth finger with nubbins for fingers 2, 3, and 4 and the hand deformity of the Poland anomaly. A malformations surveillance program can identify enough affected infants to characterize a phenotype. In the Active Malformations Surveillance Program in Boston (1972-2012) among 289,365 births, all infants and fetuses with structural abnormalities were identified from reading the examination findings by the pediatricians and pathologists and the results of diagnostic tests. Liveborn and stillborn infants were included, as well as fetuses from elective terminations because of anomalies identified in prenatal testing. We present the findings in 14 infants, all liveborn, who had symbrachydactyly of one or both hands (n = 12) or feet (n = 2). We suggest restricting the term symbrachydactyly to this single phenotype to improve counseling and to focus future research on identifying the cause(s).
Publicações recentes
Ver todas no PubMed📚 EuropePMC3 artigos no totalmostrando 9
Technique of Nonvascularized Second Metacarpal Transfer in the Treatment of Symbrachydactyly.
Techniques in hand & upper extremity surgeryInterposition arthroplasty for osteoarthritis of fifth carpometacarpal joint in a case of symbrachydactyly of hands and feet.
Hand surgery & rehabilitationA Systematic Review of Vascularized and Nonvascularized Toe Transfer for Reconstruction of Congenital Hand Differences.
Plastic and reconstructive surgeryHypothesis: Symbrachydactyly.
American journal of medical genetics. Part ANonvascularized Free Toe Phalangeal Transfers in Congenital Hand Differences: Radiological, Functional, and Patient/Parent-Reported Outcomes.
The Journal of hand surgerySymbrachydactyly: Finger nubbins are not always amniotic band disruption sequence.
JAAPA : official journal of the American Academy of Physician AssistantsCase Report: 35-Year Follow-up for Nonvascularized Toe Phalangeal Transfer for Multiple Digit Symbrachydactyly.
Hand (New York, N.Y.)Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPSymbrachydactyly - Diagnosis, Function, and Treatment.
The Journal of hand surgeryAssociações
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Technique of Nonvascularized Second Metacarpal Transfer in the Treatment of Symbrachydactyly.
- Interposition arthroplasty for osteoarthritis of fifth carpometacarpal joint in a case of symbrachydactyly of hands and feet.
- Correction of symbrachydactyly: a systematic review of surgical options.
- A Systematic Review of Vascularized and Nonvascularized Toe Transfer for Reconstruction of Congenital Hand Differences.
- Hypothesis: Symbrachydactyly.
- Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1570(Orphanet)
- MONDO:0015516(MONDO)
- GARD:1680(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785527(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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