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Zigodactilia tipo 4
ORPHA:295193CID-10 · Q70.3CID-11 · LB79.YDOENÇA RARA
Também conhecida comoSD1
Sinônimos clínicos: SD1, tipo Castilla · SD1d · Sindactilia tipo 1, tipo Castilla · +2

Zigodactilia tipo 4 é uma anomalia congênita rara caracterizada pela fusão parcial ou completa dos dedos dos pés, afetando principalmente o segundo e terceiro dedos. Frequentemente associada a outras malformações, pode impactar a marcha e o uso de calçados.

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Introdução

O que você precisa saber de cara

Mantido pelo Disease Twin100% com fonte · atualizado 01/10/2026
Informacoes curadas por IA — podem conter imprecisoes

Visão geral

A zigodactilia tipo 4 (em inglês, Zygodactyly type 4) é uma condição clínica rara registrada na classificação internacional com os identificadores MONDO:0017545 e CID-10 Q70.3. Até o momento, os dados sobre prevalência, padrão de herança e idade típica de início não estão documentados nas bases de dados de referência.[1]

Causas genéticas

Atualmente, não há genes causais específicos identificados ou catalogados nas bases de dados genéticas de referência para a zigodactilia tipo 4.[1][2]

Fontes numeradas em Referências.

Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.

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EM LINGUAGEM SIMPLES

A zigodactilia tipo 4 é uma condição genética congênita rara classificada no grupo das anomalias nos dedos, também conhecida como sindactilia tipo 1d. Os detalhes sobre os sintomas exatos e os genes causais ainda não estão catalogados nos principais bancos de dados de doenças raras. Não há medicamentos específicos para curar a condição, mas o SUS oferece exames diagnósticos como o cariótipo e o exoma. O suporte e o acompanhamento das famílias ocorrem pela rede pública de saúde por meio do atendimento em reabilitação para doenças raras.

Informacoes curadas por IA — podem conter imprecisoes
[1] Orphanet [2] GARD (NIH) [17] Ministério da Saúde — lista oficial de…
📋
Informacoes curadas por IA — podem conter imprecisoes

Zigodactilia tipo 4 é uma anomalia congênita rara caracterizada pela fusão parcial ou completa dos dedos dos pés, afetando principalmente o segundo e terceiro dedos. Frequentemente associada a outras malformações, pode impactar a marcha e o uso de calçados.

Publicações científicas
22 artigos
Último publicado: 2019 Feb 18
🏥
SUS: Cobertura mínimaScore: 15%
5 procedimentos SIGTAPCID-10: Q70.3
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (5)
•
Cariótipo — bandas G, Q ou R
•
Pesquisa de microdeleções/microduplicações por FISH
•
Sequenciamento completo do exoma (WES)
•
Dosagem de alfa-fetoproteína
•
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa9
Total histórico22PubMed
Últimos 10 anos29publicações
Pico202315 papers
Linha do tempo
20202017Hoje · 2026📈 2023Ano 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 — Zigodactilia tipo 4

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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

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
8 papers (10 anos)
#1

Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride.

Animal : an international journal of animal bioscience2024 Apr

Cooling down is essential for horse recovery before veterinary inspection during an endurance ride. As salt potentially decreases water temperature, we tested whether adding salt to the water used to cool horses could aid their recovery. Twelve healthy Arabian horses participating in a novice endurance ride were divided evenly into two groups. Heart rate variability (HRV) variables, including time and frequency domains, non-linear results, and autonomic nervous system indices, were determined before recovery and at 1-min intervals for 9 min during recovery using either cold or cold-saline water. An interaction between water type and time was observed in the modulation of the SD of beat-to-beat (RR) intervals, square root of the mean squared differences between successive RR intervals (RMSSD), HRV triangular index, very low-frequency band (VLF), low-frequency band/high-frequency band ratio, and SD of the Poincaré plot perpendicular to the line of identity (SD1) non-linear results. A decrease in heart rate and the sympathetic nervous system index corresponding to an increase in RR intervals and the parasympathetic nervous system (PNS) index was observed over time. A rise in the triangular interpolation of the normal-to-normal intervals, number of successive RR interval pairs that differ more than 50 ms, low-frequency band, and total power, coinciding with decreased stress index, was detected at 9 min of recovery. A difference between RMSSD and SD1 was observed between groups, in which they were higher in horses cooling with cold-saline water when compared to cold water at 5 min after cooling began. An increase in VLF was seen at 9 min only in horses cooled with cold-saline water. In conclusion, different water types distinctly impacted HRV in horses. The predominant PNS activity in horses recovering with cold-saline water reflects its positive impact on cooling during an endurance ride.

#2

Effects of chronotype on sleep, mood and cardiovascular circadian rhythms in rotating night shift medical workers.

International archives of occupational and environmental health2024 May

Whether chronotype affects the health outcomes of night shift work populations is unknown. This study aimed to assess the influence of different chronotypes in the rotating night shift population on sleep status, mood, blood pressure (BP), and heart rate variability (HRV), as well as the circadian rhythm of BP and HRV. A total of 208 rotating night shift workers were included. All participants completed structured questionnaires to assess chronotype, mood and sleep status. During their daily lives outside of the night shift, they underwent 24-hour Holter electrocardiogram monitoring and 24-hour ambulatory blood pressure monitoring. Day-time and night-time BP and BP dipping were obtained. Day-time and night-time HRV values (SDNN, RMSSD, LF, HF, LF nu, SD1, SD2 and SD2/SD1) were calculated and fitted to the cosine period curve. Three circandian parameters (mesor, amplitude and acrophase) were extracted to quantify the circadian rhythm of the HRV indices. Among all three groups, E-type showed more fatigue and sleepiness. In addition, E-type showed blunted diastolic BP dipping. Notably, E-type showed association with higher RMSSD, LF, HF and SD1 in the night time, and higher mesors of RMSSD and LF and amplitude of SD2/SD1 in circadian analysis. Chronotype is a factor affecting fatigue, sleepiness and cardiovascular circadian rhythms of rotating night shift workers. Chronotype should be taken into consideration for managing night-shift rotation to promote occupational health.

#3

Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation.

International journal of radiation biology2024

The 'Improved White Ponni' (IWP) rice variety, which is susceptible to lodging, leading to yield losses. Our primary goal is to develop new rice lines with non-lodging traits, enhancing stem strength and resistance to adverse conditions. Additionally, we aim to improve yield-contributing agronomic traits, benefiting farmers, food security, and the environment. Our work contributes to scientific knowledge and addresses a significant issue in Southern Indian rice cultivation. In the present study, early and semi-dwarf early mutants of IWP were developed without altering the native grain quality traits using gamma ray-mediated mutagenesis. The seeds (500) were irradiated with γ-rays after fixing the Lethal Dose 50 (LD50), and selection for semi-dwarfism and earliness was imposed on a large M2 population. The selected traits were confirmed by evaluating the M3 lines at morpho-physiological, biochemical, and molecular levels. The response of mutants to gibberellic acid has been studied, which identified responsive mutants as well as slow-responding mutant lines including IWP-11-2, IWP-48-2, IWP-50-11, and IWP-33-2. Agar plate assay indicated low α- amylase content in IWP-50-11, IWP-33-2, IWP-43-1, IWP-47-2, and IWP-18-1. The scanning electron microscopy demonstrated that the mutants displayed an increased cellular dimension in comparison to the wild type. In dwarf mutants, null alleles were observed for the SD1 gene-specific primers which depicts gene undergone mutation. Further sequencing revealed the presence of single nucleotide polymorphisms in the SD1 gene resulting in semi-dwarfism in the mutant IWP-D-1. The impact of a defective gibberellic acid-mediated signaling pathway in mutants to produce a novel high-yielding and early maturing semi-dwarf rice variety.

#4

Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

Journal of clinical lipidology2024

Familial hypobetalipoproteinemias (FHBL) are rare genetic diseases characterized by lipid malabsorption. We focused on abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in microsomal triglyceride transfer protein (MTTP) and SAR1B genes, respectively. Treatments include a low-fat diet and high-dose fat-soluble vitamin supplementations. However, patients are not supplemented in carotenoids, a group of lipid-soluble pigments essential for eye health. Our aim was to evaluate carotenoid absorption and status in the context of hypobetalipoproteinemia. We first used knock-out Caco-2/TC7 cell models of FHBL-SD1 and FHBL-SD3 to evaluate carotenoid absorption. We then characterized FHBL-SD1 and FHBL-SD3 patient status in the main dietary carotenoids and compared it to that of control subjects. In vitro results showed a significant decrease in basolateral secretion of α- and β-carotene, lutein, and zeaxanthin (-88.8 ± 2.2 % to -95.3 ± 5.8 %, -79.2 ± 4.4 % to -96.1 ± 2.6 %, -91.0 ± 4.5 % to -96.7 ± 0.3 % and -65.4 ± 3.6 % to -96.6 ± 1.9 %, respectively). Carotenoids plasma levels in patients confirmed significant deficiencies, with decreases ranging from -89 % for zeaxanthin to -98 % for α-carotene, compared to control subjects. Given the continuous loss in visual function despite fat-soluble vitamin treatment in some patients, carotenoid supplementation may be of clinical utility. Future studies should assess the correlation between carotenoid status and visual function in aging patients and investigate whether carotenoid supplementation could prevent their visual impairment.

#5

Utilization of electronic portal referrals to a community agency for children presenting with an asthma exacerbation to a pediatric emergency department.

The Journal of asthma : official journal of the Association for the Care of Asthma2024 Apr

To evaluate referral rates and factors associated with referrals to a community agency for children evaluated for an asthma exacerbation at a pediatric emergency department (PED) and compare PED visits for asthma the following year between those referred and not referred. We reviewed electronic health records of children 2-18 years evaluated in our PED from 01/01/2019 to 12/31/2019 with an ICD-10 diagnostic code for asthma (J45x) following the introduction of a portal where clinicians could refer children to a community agency focused on improving health outcomes for asthma. We abstracted data on demographics, PED visits, and hospitalizations and used multivariate logistic regression to evaluate factors associated with referrals. Of the 2262 charts analyzed, the majority of patients were male (61%), Black (76%), and held public insurance (71%). Only a minority of patients (n = 140, 6%) were referred. Age [6-12 years (AOR: 1.93, 95% CI: 1.21-3.08, p = .006), 13-18 years (AOR: 10.61, 95% CI: 6.53-17.24, p = .001)] and lifetime number of PED asthma visits [≥3 visits (AOR: 1.91, 95% CI, 1.01-3.62, p = .05)] were associated with referral. There was no significant difference in the mean number of PED visits in one year [referred: 0.59 (SD1.2) vs. not referred: 0.79 (SD1.3), t = 1.70, p = .09] between the two groups. The referral rate to community agency from PED for asthma is low. There was no difference in short-term PED utilization for asthma between those referred and not referred.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC11 artigos no totalmostrando 29

2024

Impact of different cooling solutions on autonomic modulation in horses in a novice endurance ride.

Animal : an international journal of animal bioscience
2024

Effects of chronotype on sleep, mood and cardiovascular circadian rhythms in rotating night shift medical workers.

International archives of occupational and environmental health
2024

Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation.

International journal of radiation biology
2023

Peripartum hysterectomy clinical characteristics and outcomes- a hospital based retrospective audit study.

The Medical journal of Malaysia
2024

Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

Journal of clinical lipidology
2023

Heart rate variability at rest and in response to stress: Comparative study between hemodialysis and peritoneal dialysis patients.

Experimental biology and medicine (Maywood, N.J.)
2024

Utilization of electronic portal referrals to a community agency for children presenting with an asthma exacerbation to a pediatric emergency department.

The Journal of asthma : official journal of the Association for the Care of Asthma
2023

The Effect of Auditory Stimulation on the Nonlinear Dynamics of Heart Rate: The Impact of Emotional Valence and Arousal.

Noise & health
2024

Evaluation of cardiac autonomic function and low-grade inflammation in children with obesity living in the Northeast Brazilian region.

Jornal de pediatria
2023

Neurogenic hypertension characterizes children with congenital central hypoventilation syndrome and is aggravated by alveolar hypoventilation during sleep.

Journal of hypertension
2023

Identification of broad, potent antibodies to functionally constrained regions of SARS-CoV-2 spike following a breakthrough infection.

Proceedings of the National Academy of Sciences of the United States of America
2023

Longitudinal outcomes for educational placement and quality of life in a prospectively recruited multinational cohort of children with cochlear implants.

International journal of pediatric otorhinolaryngology
2023

Probiotics of Lacticaseibacillus paracasei SD1 and Lacticaseibacillus rhamnosus SD11 attenuate inflammation and β-cell death in streptozotocin-induced type 1 diabetic mice.

PloS one
2023

Deciphering the network of cholesterol biosynthesis in Paris polyphylla laid a base for efficient diosgenin production in plant chassis.

Metabolic engineering
2023

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.

Nutrients
2023

Combined genome-wide association study and epistasis analysis reveal multifaceted genetic architectures of plant height in Asian cultivated rice.

Plant, cell & environment
2023

Muscle metaboreflex activation during hypercapnia modifies nonlinear heart rhythm dynamics, increasing the complexity of the sinus node autonomic regulation in humans.

Pflugers Archiv : European journal of physiology
2023

Correlation among Poincare plot and traditional heart rate variability indices in adults with different risk levels of metabolic syndrome: a cross-sectional approach from Southern India.

Journal of basic and clinical physiology and pharmacology
2023

Dysfunction of the cardiac parasympathetic system in fatal familial insomnia: a heart rate variability study.

Sleep
2022

Factors important in the correct evaluation of oral high-risk lesions during the telehealth era.

Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
2023

Anti-cancer Properties of Potential Probiotics and Their Cell-free Supernatants for the Prevention of Colorectal Cancer: an In Vitro Study.

Probiotics and antimicrobial proteins
2022

Relationship between the number of comorbidities, quality of life, and cardiac autonomic modulation in patients with coronary disease: a cross-sectional study.

Revista da Associacao Medica Brasileira (1992)
2022

Reliability of the heart rate variability threshold during treadmill exercise.

Clinical physiology and functional imaging
2022

1.7 cm elongated Achilles tendon did not alter walking gait kinematics 4.5 years after non-surgical treatment.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA
2023

Association of cardiac autonomic modulation with different intensities of physical activity in a small Brazilian inner city: A gender analysis.

European journal of sport science
2022

Physicochemical characterization of the recombinant lectin scytovirin and microbicidal activity of the SD1 domain produced in rice against HIV-1.

Plant cell reports
2021

Impaired vagal adaptation to an exercise task in women with gestational diabetes mellitus versus women with uncomplicated pregnancies.

Hormones (Athens, Greece)
2022

Associations Between Heart Rate Variability-Derived Indexes and Training Load: Repeated Measures Correlation Approach Contribution.

Journal of strength and conditioning research
2017

Zygodactyly is strongly associated with Acute Myeloid Leukaemia.

British journal of haematology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Zigodactilia tipo 4.

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

A zigodactilia tipo 4 é uma anomalia congênita rara pertencente ao grupo das sindactilias, classificada pelo código ORPHA:295193. Ela também é descrita na literatura médica como sindactilia tipo 1d ou SD1d.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

3 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 4 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. MONDO
    purl.obolibrary.org
  2. GARD:21216
    GARD (NIH)
  3. Q55787169
    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.

Citar este verbete

Raras. (2026). Zigodactilia tipo 4. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/zigodactilia-tipo-4

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Zigodactilia tipo 4

ORPHA:295193 · MONDO:0017545
🇧🇷 Brasil SUS
SIGTAP
5 procedimentos
Geral
CID-10
Q70.3 · Artelhos palmados
CID-11
MedGen
UMLS
C5679981
EuropePMC
Wikidata
Papers 10a
Evidência
🥉 Relato de caso

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Dado público estruturado
fonte: Wikidata
Rara