Raras
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Síndrome de trigonocefalia-polegares largos
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Introdução

O que você precisa saber de cara

📋

A síndrome de trigonocefalia-nariz bífido-anomalias acrais é uma doença genética muito rara caracterizada por trigonobraquicefalia, testa estreita, fissuras palpebrais oblíquas para cima, nariz bulboso e ligeiramente bífido, macrostomia, lábio superior fino, macrognatia, polegares largos, dedos dos pés grandes, pontas dos dedos largas com leitos ungueais curtos, hipermobilidade articular e clinodactilia do quinto dedo (acral). Achados adicionais incluem baixa estatura, hipotonia e retardo psicomotor grave. Foi descrita em um irmão e uma irmã nascidos de pais palestinos árabes saudáveis e consanguíneos.

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
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.0
🇧🇷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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202595 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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 — Síndrome de trigonocefalia-polegares largos

🗺️

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

🥈Melhor nível de evidência: Observacional
Timeline de publicações
0 papers (10 anos)
#1

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Clinical genetics2026 Jan

Miller syndrome (MIM#263750) is a rare autosomal recessive acrofacial dysostosis associated with biallelic DHODH variants. Since the identification of the gene in 2010, five case reports have described a variable phenotype in only nine individuals from eight families. We present a cohort of 10 individuals from seven families affected by Miller syndrome, spanning the prenatal stage to 46 years of age. We report on the largest cohort of Miller syndrome to date, which highlights novel findings, including optic atrophy in multiple members of one consanguineous family. The typical postaxial limb defects, including the absence of the 5th digit, were consistent with prior descriptions, but we highlighted the frequent involvement of preaxial structures (thumb and tibial hypoplasia). A higher incidence of camptodactyly and the presence of facial nevus in two patients were notable findings. Congenital heart defects, primarily atrial septal defects, were common, and all living individuals had normal neurodevelopment. This cohort expands the phenotypic spectrum of Miller syndrome associated with variation in DHODH, presenting new findings such as preaxial involvement and facial nevus simplex. Optic atrophy in one family could prompt screening of other cases. Early prenatal diagnosis, particularly in the presence of cardinal limb and cardiac malformations, is crucial for management and genetic counseling.

#2

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Clinical genetics2026 Mar

Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14-year-old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole-exome sequencing identified hemizygous maternally inherited FLNA gene variants in P1 (c.733G>A; p.Glu245Lys) and P2 (c.3707G>A; p.Gly1236Asp, novel), expanding the OPD2 mutational spectrum (NM_001110556). P1 presented with facial dysmorphism, dental anomalies, flattened thumbs, and dermatoglyphic changes; P2 showed facial dysmorphism, skeletal and cardiac malformations, and omphalocele. These cases underscore the breadth of OPDSD phenotypic variability and add novel genetic data. Dental management demands multidisciplinary care from infancy through adolescence, including cleft repair, orthodontics for micrognathia and facial aesthetics, and treatment of dental anomalies. Early recognition, molecular diagnosis, and coordinated management are critical for improving outcomes in these complex disorders.

#3

Carpal Tunnel Decompression and Occupational Productivity: Assessing Post-Surgical Work Engagement and Absenteeism.

Current rheumatology reviews2026 Mar 19

Carpal Tunnel Syndrome (CTS) imposes significant occupational and economic burdens, yet data on postoperative work outcomes in Tunisia remain limited. This retrospective cross-sectional study (2014-2022) analyzed 118 surgically managed CTS patients from Taher Sfar Mahdia University Hospital using the BCTQ-A (symptom/function severity) and WPAI-GH (work productivity) questionnaires. Key predictors for surgical intervention included bilateral involvement (Adj. OR=22.0, 95%CI:5.5-33.4), thumb opposition loss (p<0.001), and occupational factors like >8h workdays (p=0.04) and >20 years' seniority (p=0.05). Postoperatively, 68.3% required workstation adjustments, while 19.5% underwent job transfers. The cohort demonstrated substantial productivity impairment, with 69.4% overall work productivity loss (WPAI-GH), disproportionately affecting older (>40 years, p=0.02) and less-educated workers (p=0.02). Notably, 84.4% of patients required 30-day medical leave, aligning with global benchmarks (23.4-day average). Multivariate analysis identified nocturnal pain (p<0.001) and difficulty with bottle-opening (p<0.001) as key drivers of productivity decline. Operated CTS appears to have a more substantial impact on work quality, likely due to surgical complications and postoperative recovery challenges. This underscores the importance of early conservative management and preventive strategies. These findings underscore the need for early ergonomic interventions, particularly in high-risk sectors like garment manufacturing (81.7% of the cohort) and multidisciplinary prevention strategies combining workplace modifications, health education, and weight management. With CTS costing over $2B annually in the U.S. alone, proactive measures targeting long-tenured manual laborers are urgently needed to mitigate its socioeconomic impact.

#4

[Tongue acupuncture for insomnia of liver qi stagnation syndrome: a case report].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion2026 Mar 12

This article reports 1 case of insomnia of liver qi stagnation syndrome treated with tongue acupuncture. The patient was in a sitting position, with the mouth opened and tongue extended naturally to fully expose the positions of tongue points. Lying position is applicable to release the fear of patient. The physician fixed the patient's head with the left hand, held the handle of sterile filiform needle (0.30 mm×40 mm) for single use with the thumb, index finger and middle finger of the right hand. The needle was pricked at Xin, Naoling, Naozhong, Fudi and Dan points rapidly, one pricking at each tongue point, 2 mm to 3 mm in depth, without bleeding required and needle retained. The treatment was given once daily, 5 times a week followed by a 2-day interval, and 3 weeks constituted one course of treatment. After one course of treatment, the patient could fall asleep normally without depending on sleeping pills, and the symptoms such as easily awakened, dream-disturbed sleep, irritability and anxiety were markedly attenuated. The score of the Pittsburgh sleep quality index (PSQI) decreased from 18 points to 4 points. The tongue condition turned to be normal from dark tongue with varicose veins under the tongue observed before treatment. The telephone follow-ups in half a month and 1 month after treatment showed that the patient had never taken sleeping pills since the end of treatment. The sleep start time was from 30 min to 60 min, sleep duration was 7 h to 8 h, without dream-disturbed sleep, easily awakened, tinnitus and dizziness. 报道1例肝郁气滞型不寐的舌针治疗情况。患者取坐位,张口,舌自然外伸,充分暴露舌穴位置,若有畏惧心理的患者,取仰卧位,使其放松。医者左手固定患者头部,右手持0.30 mm×40 mm一次性无菌毫针,用拇指、示指和中指捏住针柄,快速点刺心穴、脑灵穴、脑中穴、附蒂和胆穴,每个穴位点刺1次,点刺深度控制在2~3 mm,以不出血为度,不留针。每日1次,每周治疗5次后休息2 d,3周为一疗程。治疗1个疗程后,患者可不依赖安眠药正常入睡,并且易醒多梦和心烦紧张等症状明显好转,匹兹堡睡眠质量指数(PSQI)评分由18分降至4分,舌象也由治疗前的舌暗红、舌下静脉曲张转为正常舌象。后分别于治疗结束后半个月、1个月电话随访,诉治疗结束后未再服用安眠类药物,入睡时间为30~60 min,睡眠时长均为7~8 h,无多梦易醒,无耳鸣及头晕。.

#5

"Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".

Plastic and reconstructive surgery2026 Mar 13

Isolated congenital muscular pseudohypertrophy of the upper limb is a very rare anomaly. With our case series spanning twenty years, we aim to illustrate the pathological anatomy associated with this rare disorder and present a surgical framework in the operative treatment of this elusive condition. Patients presenting at two institutions were retrospectively reviewed. Exclusion criteria include syndromes (e.g. CLOVES) or isolated macrodactyly. Patients who presented with worsening deformities such as increasing metacarpophalangeal joint ulnar deviation, hyperabduction of thumb with widening of webspace affecting grasp or wrist deformities were recommended surgery. Surgical procedures include removal of aberrant muscles, rebalancing procedures or osteotomies. A total of 25 patients were reviewed, of which 18 underwent surgery and 13 attended postoperative review. The median age was 7.5 years, and mean follow-up period was 42 months. Radial abduction improved from 54° to 36°, and ulnar deviation improved from 39° to 13°. All patients regained postoperative thumb opposition to the little finger, a function that had been previously lost. However, only 8/13 could oppose the thumb to the index finger postoperatively. Surgical findings revealed interesting additional layers of muscles which are unnamed, with some of these accounting for the deformities and others for bulk. The predominant finding was that of extra muscles rather than hypertrophied muscles. This is one of the largest reported series of congenital muscular pseudohypertrophy of the upper limb. We developed a scoring system for severity and an accompanying algorithm to guide when to offer surgery for moderate or severe deformities. These new muscle morphologies may shed light on evolutionary developmental biology pathways, allowing their safe removal during surgery.Level of evidence: IV.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Carpal Tunnel Decompression and Occupational Productivity: Assessing Post-Surgical Work Engagement and Absenteeism.

Current rheumatology reviews
2026

[Tongue acupuncture for insomnia of liver qi stagnation syndrome: a case report].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2026

"Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".

Plastic and reconstructive surgery
2026

Congenital Symptomatic Scaphoid-Trapezium Coalition in a Pediatric Patient With VACTERL Association.

Journal of hand surgery global online
2026

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Medicine
2026

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Journal of cardiothoracic surgery
2026

Personalized treatment goals in hand and wrist care: understanding the influence of baseline and target score on goal achievement.

Archives of physical medicine and rehabilitation
2026

A scoping review of the impact of transverse carpal ligament sectioning on the thumb carpometacarpal joint: Does it increase the risk of ostearthritis?

JPRAS open
2026

Clinical Application of Turnover Lengthening of the Palmaris Longus Tendon in Modified Camitz Opponensplasty for Severe Carpal Tunnel Syndrome.

Hand (New York, N.Y.)
2026

Bend the fingers: Ehlers Danlos syndrome and the associated disorders that impact treatment of chronic musculoskeletal pain.

Journal of back and musculoskeletal rehabilitation
2026

Development and evaluation of a vision pose-tracking based Beighton score tool for generalized joint hypermobility in individuals with suspected Ehlers-Danlos syndromes.

Biomedical engineering online
2026

Minimally Invasive Endoscopic Palmaris Longus Abductorplasty for Severe Carpal Tunnel Syndrome and Thenar Muscle Paralysis Reconstruction.

Plastic and reconstructive surgery. Global open
2026

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.

Human genomics
2026

AlphaFold modeling of the white spot syndrome virus polymerase.

Virology
2026

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

The balance between artificial and human intelligence in clinical practice.

The Journal of hand surgery, European volume
2026

Subcutaneous extensor tendon rupture caused by Kienböck disease complicated by carpal tunnel syndrome: A case report.

Medicine
2026

Ultrasound-Guided Dextrose Hydrodissection for Mixed Sensory-Motor Wartenberg's Syndrome Following a Healed Scaphoid Fracture: A Case Report.

Diagnostics (Basel, Switzerland)
2025

"Less is More"- A Minimalistic Surgical Intervention to Correct the Right Upper Limb Deformity in an Isolated Right Radial Club Hand: A Case Report.

Journal of orthopaedic case reports
2026

Complications Following Congenital Hand and Upper Limb Surgery: Lessons From the CoULD Registry.

The Journal of hand surgery
2026

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

CEN case reports
2025

Novel Use of Meniscal Allograft Arthroplasty for Basal Joint Arthritis in a Patient With Ehlers-Danlos Syndrome: A Case Report.

Cureus
2026

Rapid Radiation Dose Estimation Techniques for Initial Patient Triage.

Health physics
2025

Secretan's Syndrome of the Hand: Literature Review and Surgical Case Report of a Rarely Documented Condition.

Journal of personalized medicine
2026

Brachioradialis muscle pain: a common source of underdiagnosed or misdiagnosed forearm pain.

The Korean journal of pain
2025

Esophageal Atresia, an Anomaly of VACTERL Association or Novel Feature of the FGF10 Gene: A Case Report.

Molecular syndromology
2025

[Endoscopic-assisted median nerve decompression combined with one-stage tendon transfer for reconstruction of thumb abduction in treatment of severe carpal tunnel syndrome].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2025

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.

Molecular syndromology
2026

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Clinical genetics
2025

Renal hypouricemia type 2 in a patient with latent autoimmune diabetes in adults: a case report and literature review.

BMC nephrology
2026

Reconstruction of Thumb and Index Flexion in High Median Nerve Paralysis Using a Single Radial Wrist Extensor Tendon Transfer.

The Journal of hand surgery
2025

Outcomes of Opponensplasty with Transfer of the Palmaris Longus Tendon to the Rerouted Extensor Pollicis Brevis Tendon for Severe Carpal Tunnel Syndrome.

The journal of hand surgery Asian-Pacific volume
2025

How Well Does ChatGPT-4o Reason? Expert Evaluation of Diagnostic and Therapeutic Performance in Hand Surgery.

Journal of clinical medicine
2025

Diagnostic Accuracy of Electrodiagnostic Comparative Latency Studies of Carpal Tunnel Syndrome: Single Test and Concordance Between Multiple Tests.

Diagnostics (Basel, Switzerland)
2026

Modified Camitz versus flexor digitorum superficialis of the fourth finger opponensplasty in severe carpal tunnel syndrome: A systematic review.

Hand surgery &amp; rehabilitation
2026

Free functional gracilis muscle opponensplasty for thenar reconstruction: Indications, technique, and long-term outcomes.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Exploring Roberts syndrome, unique manifestations in a four-month-old infant and genetic findings: A case report.

World journal of clinical pediatrics
2026

Carpometacarpal Osteoarthritis Is Associated With an Increased Risk of Carpal Tunnel Syndrome.

Journal of hand surgery global online
2025

Dilated cardiomyopathy in Rubinstein-Taybi syndrome: A case report and mini-review of the literature.

Medicine international
2025

Effects of home exercise-based mobile games on thumb rehabilitation outcomes mobile games on thumb rehabilitation.

Hand therapy
2025

Wide-awake vs. regional anesthesia for carpal tunnel release: a prospective study on pain, grip strength, and sleep quality.

BMC surgery
2025

Regional Peripheral Neuromodulation via Glucopuncture: A Novel Targeted Approach for Persistent Myofascial Dysfunction.

Cureus
2025

Microvascular changes in children with MIS-C: a monocentric exploratory study using comparative nailfold capillaroscopy.

Frontiers in pediatrics
2025

Feasibility of Force-Sensing Finger Assessment in Elite Fencers: A Pilot Study with Clinical Translational Potential.

Journal of clinical medicine
2025

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Genes
2025

A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome.

Audiology research
2025

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.

Human genome variation
2025

Limitations of Artificial Intelligence Generated Images for Hand Surgery Patient Education.

Journal of hand surgery global online
2025

Ehlers-Danlos Syndrome: A Tale of Two Cases Highlighting Rare Subtypes and Diagnostic Considerations.

Cureus
2025

Short-Term Clinico-Radiological Results of a Novel Technique of Casting for Radial Hemimelia with Ponseti-Like Principles.

Indian journal of orthopaedics
2025

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.

Journal of family medicine and primary care
2025

Multisystem Phenotypic Spectrum in Pediatric Heterotaxy Syndrome: A Case Series.

Cureus
2025

Rare features in Feingold syndrome type 1.

European journal of medical genetics
2025

Effect of Hypothyroidism on the Risk of Carpal Tunnel Syndrome and Electrodiagnostic Parameters.

Neurology international
2025

Comparison of hand responses to recipient nerve stimulation in sequential variations of supercharged anterior interosseous nerve transfer to the ulnar nerve - Identifying the golden recipient fascicles.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.

Genetics
2025

High-Pressure Water Injection Injury to the Hand: An Underestimated Mechanism of Compartment Syndrome.

Cureus
2026

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Clinical genetics
2025

Severe Hand Ischemia Following Distal Transradial Coronary Intervention for Cardiac Arrest.

JACC. Case reports
2025

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

Genes
2025

Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis-Varon syndrome.

Frontiers in genetics
2026

Displacement-Guided Focused Ultrasound of the Median Nerve Modulates Somatosensory Evoked Potentials in Humans.

IEEE transactions on bio-medical engineering
2025

Unilateral Lung Agenesis and Left Isomerism in a Neonate: A Case Report of Multi-system Anomalies.

Cureus
2026

Dynamic Ultrasound Imaging of Extensor Pollicis Brevis Hypertrophy in Proximal Intersection Syndrome: A Case Report and Literature Review.

Journal of clinical ultrasound : JCU
2025

Kawasaki Disease or Cat Scratch Disease? A Diagnostic Dilemma: A Paediatric Case Report and Literature Review.

Mediterranean journal of rheumatology
2025

A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene.

Clinical case reports
2026

Coordinate-Independent Ultrasound Assessment for Complex Tissue Kinematics: A Preliminary Study on Median Nerve Mobility.

IEEE transactions on bio-medical engineering
2025

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

Gene
2025

Efficacy of Different Acupuncture Therapies for Chronic Prostatitis/Chronic Pelvic Pain Syndrome: A Network Meta-Analysis.

Journal of pain research
2025

The impact of handheld devices on the wrist and thumb: a systematic review.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2025

Effect of mobile phone addiction on hand disorder, eye health, fatıgue and cognitive failures.

BMC public health
2025

Clinical characteristics of patients with SALL1-related disorder.

Pediatric nephrology (Berlin, Germany)
2025

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

Clinical medicine insights. Case reports
2025

Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.

BMC oral health
2025

Prevalence of common respiratory viruses in children: insights from post-pandemic surveillance.

BMC infectious diseases
2025

Assessing Accuracy of Chat Generative Pre-Trained Transformer's Responses to Common Patient Questions Regarding Congenital Upper Limb Differences.

Journal of hand surgery global online
2025

Challenges in Prenatal Ultrasound Diagnosis of Rubinstein-Taybi Syndrome: A Case Report and Comprehensive Literature Review.

International journal of molecular sciences
2025

Out-of-pocket Costs and Total Payments for Common Congenital Hand Difference Procedures.

Plastic and reconstructive surgery. Global open
2025

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Molecular syndromology
2024

Statewide Prevalence of Congenital Hand Anomalies: A 6-Year Review of Patients Presenting to Mississippi's Only Children's Hospital.

Eplasty
2025

A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney.

Journal of obstetrics and gynaecology of India
2025

Endoscopy-Related Musculoskeletal Injuries: A Systematic Review and Meta-Analysis on Prevalence, Risk Factors and Prevention.

United European gastroenterology journal
2025

Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive review.

Journal of orthopaedic surgery and research
2025

Visual feedback and motor memory contributions to sustained motor control deficits in autism spectrum disorder across childhood and into adulthood.

Journal of neurodevelopmental disorders
2025

A "Smurf-Cap" head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

European journal of human genetics : EJHG
2025

Lipomatous Mass Effect on the Brachial Plexus: A Case Report.

Cureus
2025

Quantitative Evaluation of Tendon Gliding Sounds and Their Classification Using Deep Learning Models.

Cureus
2025

Occurrence of Malformations of the Upper Extremity in Tibial Hemimelia: Correlation with the Jones Classification.

Indian journal of orthopaedics
2025

Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome following Dalbavancin and Oritavancin Administration in a Patient with Osteomyelitis.

Case reports in dermatology
2025

Assessing the Usability of ChatGPT Responses Compared to Other Online Information in Hand Surgery.

Hand (New York, N.Y.)
2025

From Hope to Heartache: A Case Report of Treatment Failure and its Impact on a 1-year-old with Bilateral Radial Aplasia in a Resource-Limited Setting.

Journal of orthopaedic case reports
2025

Impact of excessive phone usage on hand functions and incidence of hand disorders.

Annals of medicine and surgery (2012)
2025

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome.

Prenatal diagnosis
2025

Flow-Through Procedure in Sequela After Complex Injuries of the Hand With Fingers' Amputation.

Journal of hand surgery global online
2025

Failed Thumb Basal Joint Arthroplasty: An Analysis of Common Etiologies Leading to Reoperation.

Journal of hand surgery global online
2025

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.

American journal of medical genetics. Part A
2025

Aase-Smith syndrome type 2 with new neurological findings.

Oxford medical case reports
2025

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.

Disease models &amp; mechanisms
2025

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

European journal of human genetics : EJHG
2025

G - Hercnan Syndrome (Giant Hand Extraesqueletal Regular Chondroma No Ollier and No Malignant): Report of a Case and Literature Review.

Journal of orthopaedic case reports
2025

Successful treatment with refractory myasthenia gravis that developed after allogeneic hematopoietic stem cell transplantation: two case reports.

Frontiers in immunology
2025

[Clinical observation on the efficacy of ringheaded thumb-tack needle therapy combined with tuina and active functional exercise in the treatment of neck-type cervical spondylosis].

Zhen ci yan jiu = Acupuncture research
2024

Comparative Analysis of Photoplethysmogram (PPG) Waveform Characteristics Across Various Body Sites Under Normal and Apneic Conditions.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
2025

Morphological analysis of the median nerve in the carpal tunnel during wrist movements, finger pinching and palm loading.

Journal of biomechanics
2025

The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome.

Annals of neurosciences
2025

Wrist and Hand Injuries in Baseball.

Clinics in sports medicine
2025

Exudative retinal detachment in a pediatric patient with Rubinstein-Taybi syndrome.

Retinal cases &amp; brief reports
2025

ChatGPT 4.0's efficacy in the self-diagnosis of non-traumatic hand conditions.

Journal of hand and microsurgery
2025

Total Arthroplasty Versus Trapeziectomy With Ligamentoplasty for Trapeziometacarpal Osteoarthritis: 5-year Outcomes.

Clinical orthopaedics and related research
2025

Efficacy and success rate of Distal Radial Artery Access at the Anatomical Snuffbox for Coronary Intervention at Central Chest Institute of Thailand.

BMC cardiovascular disorders
2025

Tendon Anatomy and Tendon Disorders of the Wrist.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2024

Prevalence of De Quervain's Tenosynovitis among Teenage Mobile Users: A Cross-Sectional Study.

Journal of pharmacy &amp; bioallied sciences
2025

Difference between the thumb motions in carpal tunnel syndrome and trapeziometacarpal osteoarthritis.

Clinical biomechanics (Bristol, Avon)
2025

A Changing Landscape in Surgical Treatment of Basilar Thumb Arthritis: Is the Rate of Denervation Increasing?

The Journal of hand surgery
2025

Patient-specific factors associated with conservative treatment failure in de Quervain tenosynovitis.

Journal of clinical orthopaedics and trauma
2025

Rubinstein-Taybi Syndrome With Severe Eczema, Recurrent Infections, and Hyper IgE Profile Responsive to Dupilumab Treatment.

Pediatric dermatology
2025

[Pain around the first ray of the hand: differential diagnoses and treatment].

Orthopadie (Heidelberg, Germany)
2024

Unusual swelling of the hand and multiple nodules over the body - beware of mycobacteria.

Acta orthopaedica Belgica
2024

Lesch-Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports.

International journal of clinical pediatric dentistry
2024

Novel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.

Cureus
2025

Radial nerve at Frohse's arcade: a new technique of release under total ultrasound guidance. First experience.

Hand surgery &amp; rehabilitation
2025

Reliability of Hand-Held Dynamometer Measurement for Thumb Palmar Abduction Strength in Carpal Tunnel Syndrome.

The journal of hand surgery Asian-Pacific volume
2025

Structure of the human autophagy factor EPG5 and the molecular basis of its conserved mode of interaction with Atg8-family proteins.

Autophagy
2025

Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.

Psychiatric genetics
2024

Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report.

Case reports in women's health
2024

Single-Stage Mini-Open Release for Bilateral Carpal Tunnel Syndrome - A Case Report.

Journal of orthopaedic case reports
2025

Use of Upper Extremity Electromyography Twitch Monitoring in a Patient With Goldenhar Syndrome and Absent Thumbs.

Paediatric anaesthesia
2024

Rehabilitation Management of a Patient with Median Nerve Entrapment from Venipuncture-associated Hematoma in Dengue Hemorrhagic Fever: A Case Report.

Acta medica Philippina
2024

Dislocation of the First Metacarpophalangeal Joint Complicated by the Interposition of the Thumb Sesamoid Bones: A Case Report.

Cureus
2025

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Clinical genetics
2024

Surgical Considerations in the Management of Constriction Ring Syndrome.

The journal of hand surgery Asian-Pacific volume
2024

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.

The application of clinical genetics
2025

Quo vadis DSM-6? An expert survey on the classification, diagnosis, and differential diagnosis of body-focused repetitive behaviors.

Comprehensive psychiatry
2025

Special issue: nerve compression syndromes "Brachioradialis, or "High Wartenberg", syndrome - compression of the sensory branch of the radial nerve in the proximal forearm.

International orthopaedics
2024

Ultrasound-guided radial nerve release at the arm under WALANT.

Hand surgery &amp; rehabilitation
2024

Pediatric Nail Disorders.

Skin appendage disorders
2024

Trigger finger - Poor outcome of surgery associated with younger age, pain, psoriatic arthritis and atopic disease.

Upsala journal of medical sciences
2025

Evaluation of the clinical features of an outpatient cohort with Marfan syndrome.

International journal of cardiology
2024

A Rare Case of Synovial Chondromatosis in the Proximal Interphalangeal Joint of the Right Index Finger.

Cureus
2024

Rubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.

Journal of clinical medicine
2024

The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.

International journal of molecular sciences
2024

A Unique Clinical Presentation of Congenital Thumb Aplasia, Radioulnar Synostosis, and Chiari Malformation: A Potential Pediatric Syndromic Association.

Cureus
2024

Endoscopic carpal tunnel release with opponensplasty using ring finger flexor digitorum superficialis under WALANT with ultrasound assistance.

Journal of hand and microsurgery
2024

When the heart and hands tell a story: an intriguing case of Holt-Oram syndrome.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
2024

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

BMC medical genomics
2024

Carpal Tunnel Syndrome as an Atypical Presentation of Chikungunya: A Case Report.

Cureus
2024

Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child.

Cureus
2024

Holt-Oram Syndrome With Atrial Septal Defect.

Cureus
2024

An unusual presentation of pacifier thumb duplication with VACTERL association: Case report and review of literature.

International journal of surgery case reports
2025

Variation in Interpretation of Provocative Tests for Carpal Tunnel Syndrome.

The Journal of hand surgery
2024

Isolated Unilateral Total Absence of the Pectoralis Minor Muscle: A Rare Finding in Two Cases.

Cureus
2024

Health impact of screen addiction: A cross-sectional comparative study.

The National medical journal of India
2025

Resection of Fourth-to-Fifth Metacarpal Synostosis and Fascial Interposition for Creation of a Functional Grip/Pinch in the Apert Hand.

Plastic and reconstructive surgery
2024

Unilateral Onychodystrophy and Puffy Fingers: Think about Carpal Tunnel Syndrome.

Skinmed
2024

Polybrachysyndactyly in all 4 extremities: Case report.

International journal of surgery case reports
2024

Prevalence and sex differences in endoscopy-related injuries: comprehensive systematic review and meta-analysis.

iGIE : innovation, investigation and insights
2024

Radiographic Edema Is a Predictor of de Quervain's Tenosynovitis.

Journal of wrist surgery
2024

Hybridized deep learning goniometry for improved precision in Ehlers-Danlos Syndrome (EDS) evaluation.

BMC medical informatics and decision making
2024

Effect of ginger-partitioned moxibustion combined with ringheaded thumb-tack needle stimulation on gastrointestinal reactions of malignant tumor patients undergoing chemotherapy.

Zhen ci yan jiu = Acupuncture research
2024

Effects of the COVID-19 Pandemic on Hand and Arm Dysfunction: A Google Trends Analysis.

Cureus
2024

Values and Diagnostic Accuracy of Electrodiagnostic Findings in Carpal Tunnel Syndrome Based on Age, Gender, and Diabetes.

Diagnostics (Basel, Switzerland)
2024

Secondary Linburg-Comstock syndrome post-trapeziectomy surgery.

BMJ case reports
2024

Congenital Contractures and Fractures: A Variant of Bruck Syndrome Type 2.

Cureus
2024

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

Prenatal diagnosis
2024

[Click phenomenon in acquired Jaensch-Brown syndrome and trigger finger/thumb: the Notta syndrome].

Die Ophthalmologie
2024

Cancer risk in individuals with polydactyly: a Swedish population-based cohort study.

British journal of cancer
2024

The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.

Genes
2024

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.

Italian journal of pediatrics
2024

Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.

Kidney international reports
2024

Congenital nail abnormalities.

Hand surgery &amp; rehabilitation
2024

The yes-no reversal phenomenon in patients with primary progressive apraxia of speech.

Cortex; a journal devoted to the study of the nervous system and behavior
2024

Visuotactile integration in individuals with fibromyalgia.

Frontiers in human neuroscience
2024

Opposition Transfer Using the Extensor Indicis Muscle and the Extensor Pollicis Brevis Tendon.

Journal of hand surgery global online
2024

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.

Taiwanese journal of obstetrics &amp; gynecology
2024

Liver cirrhosis in a patient with alcohol dependence and autoimmune hepatitis.

European review for medical and pharmacological sciences
2024

A Case of Marfan Syndrome With Congenital Hip Dysplasia and Spine Abnormality.

Cureus
2024

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).

European journal of medical genetics
2024

Effectiveness of Tailor-Made Physiotherapy Protocol in Smartphone-Addicted Individuals With Text Neck Syndrome and Short Message Service (SMS) Thumb.

Cureus
2024

Atrial fibrillation incidence after coronary artery bypass graft surgery and percutaneous coronary intervention: the prospective AFAF cohort study.

Scandinavian cardiovascular journal : SCJ
2024

[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Long-term follow-up for the atypical radial longitudinal deficiency: A case report.

Congenital anomalies
2024

Sivelestat (Neutrophil Elastase Inhibitor) as an Anti-inflammatory and Anti-viral Agent: An In Silico Study.

Cureus
2024

Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review.

Clinical genetics
2024

Superficial branch of the radial nerve passing through the supinator canal, emerging between the extensor digitorum and abductor pollicis longus muscles and consequently supplying the second finger and radial portion of the third finger: a case report and clinical implications.

Surgical and radiologic anatomy : SRA
2024

Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia.

Journal of anatomy
2024

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Nephrology (Carlton, Vic.)
2024

De Quervain tendinitis after total trapeziometacarpal joint arthroplasty: Biomechanical evaluation of tendon excursion in the first extensor tendon compartment.

Hand surgery &amp; rehabilitation
2024

Modified Extensor Indicis Proprius Opponensplasty.

Techniques in hand &amp; upper extremity surgery
2024

How Does ChatGPT Use Source Information Compared With Google? A Text Network Analysis of Online Health Information.

Clinical orthopaedics and related research
2024

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.

Pediatric nephrology (Berlin, Germany)
2024

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

International journal of molecular sciences
2023

Potential effects, diagnosis, and management of De Quervain Tenosynovitis in the aesthetics community: A Brief Review, Case Example, and Illustrative Exercises.

The Journal of clinical and aesthetic dermatology
2024

A 23-year-old patient with bilateral hypoplastic thumbs and toes: A case report.

Clinical case reports
2024

Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.

Human cell
2024

Prevalence of endoscopy-related injuries and their impact on clinical practice: a systematic review and meta-analysis.

Endoscopy
2024

[Rare Compression Syndrome of the Median Nerve due to a Supracondylar Humeral Process and a Ligament of Struthers].

Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V...
2024

The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.

BMC musculoskeletal disorders

Associações

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Comunidades

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Doenças relacionadas

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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.

  1. The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
    Clinical genetics· 2026· PMID 41339098mais citado
  2. Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
    Clinical genetics· 2026· PMID 40884164mais citado
  3. Carpal Tunnel Decompression and Occupational Productivity: Assessing Post-Surgical Work Engagement and Absenteeism.
    Current rheumatology reviews· 2026· PMID 41863457mais citado
  4. [Tongue acupuncture for insomnia of liver qi stagnation syndrome: a case report].
    Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion· 2026· PMID 41839597mais citado
  5. "Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".
    Plastic and reconstructive surgery· 2026· PMID 41825060mais citado
  6. Increased contractility affects left ventricular kinetic energy in pulmonary hypertension.
    Physiol Rep· 2025· PMID 40939108recente
  7. Gene therapies and COVID-19 vaccines: a necessary discussion in relation with viral vector-based approaches.
    Orphanet J Rare Dis· 2021· PMID 34271959recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3365(Orphanet)
  2. MONDO:0018064(MONDO)
  3. GARD:2756(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55787714(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

Síndrome de trigonocefalia-polegares largos
Compêndio · Raras BR

Síndrome de trigonocefalia-polegares largos

ORPHA:3365 · MONDO:0018064
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4304968
Wikidata
DiscussaoAtiva

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