Raras
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Simbraquidactilia das mãos e pés
ORPHA:1570CID-10 · Q73.8CID-11 · LB75.2DOENÇA RARA

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.

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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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q73.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
4 sintomas
📏
Crescimento
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Diabetes materna
90%prev.
Anormalidade da articulação umeroulnar
Muito frequente (99-80%)
55%prev.
Aplasia/Hipoplasia do rádio
Frequente (79-30%)
55%prev.
Morfologia anormal da ulna
Frequente (79-30%)
55%prev.
Aplasia/Hipoplasia do polegar
Frequente (79-30%)
55%prev.
Defeito de segmentação vertebral
Frequente (79-30%)
8sintomas
Muito frequente (2)
Frequente (6)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.

Diabetes maternaMaternal diabetes
Muito frequente90%
Anormalidade da articulação umeroulnarAbnormality of the humeroulnar joint
Muito frequente (99-80%)90%
Aplasia/Hipoplasia do rádioAplasia/Hypoplasia of the radius
Frequente (79-30%)55%
Morfologia anormal da ulnaAbnormal morphology of ulna
Frequente (79-30%)55%
Aplasia/Hipoplasia do polegarAplasia/Hypoplasia of the thumb
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos10publicações
Pico20163 papers
Linha do tempo
2026Hoje · 2026📈 2016Ano de pico
Publicações por ano (últimos 10 anos)

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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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Simbraquidactilia das mãos e pés

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Timeline de publicações
0 papers (10 anos)
#1

Technique of Nonvascularized Second Metacarpal Transfer in the Treatment of Symbrachydactyly.

Techniques in hand &amp; upper extremity surgery2025 Sep 01

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.

#2

Interposition arthroplasty for osteoarthritis of fifth carpometacarpal joint in a case of symbrachydactyly of hands and feet.

Hand surgery &amp; rehabilitation2024 Jun
#3

Correction of symbrachydactyly: a systematic review of surgical options.

Systematic reviews2023 Nov 16

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.

#4

A Systematic Review of Vascularized and Nonvascularized Toe Transfer for Reconstruction of Congenital Hand Differences.

Plastic and reconstructive surgery2023 Jun 01

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.

#5

Hypothesis: Symbrachydactyly.

American journal of medical genetics. Part A2022 Nov

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).

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Technique of Nonvascularized Second Metacarpal Transfer in the Treatment of Symbrachydactyly.
    Techniques in hand &amp; upper extremity surgery· 2025· PMID 40438991mais citado
  2. Interposition arthroplasty for osteoarthritis of fifth carpometacarpal joint in a case of symbrachydactyly of hands and feet.
    Hand surgery &amp; rehabilitation· 2024· PMID 38718981mais citado
  3. Correction of symbrachydactyly: a systematic review of surgical options.
    Systematic reviews· 2023· PMID 37974291mais citado
  4. A Systematic Review of Vascularized and Nonvascularized Toe Transfer for Reconstruction of Congenital Hand Differences.
    Plastic and reconstructive surgery· 2023· PMID 36728793mais citado
  5. Hypothesis: Symbrachydactyly.
    American journal of medical genetics. Part A· 2022· PMID 36073773mais citado
  6. Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia.
    Orphanet J Rare Dis· 2023· PMID 37147676recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1570(Orphanet)
  2. MONDO:0015516(MONDO)
  3. GARD:1680(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Simbraquidactilia das mãos e pés
Compêndio · Raras BR

Simbraquidactilia das mãos e pés

ORPHA:1570 · MONDO:0015516
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
Q73.8 · Outros defeitos por redução de membro(s) não especificado(s)
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2931719
EuropePMC
Wikidata
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