Introdução
O que você precisa saber de cara
A síndrome de braquidactilia-polegar longo é uma doença genética muito rara caracterizada por braquidactilia simétrica dos dedos, acompanhada por um polegar anormalmente longo, hipomobilidade das articulações do ombro e metacarpofalângicas, e defeitos de condução cardíaca. Pés e mãos pequenos, ombros pequenos acompanhados de clavículas curtas, clinodactilia, pectus excavatum, encurtamento leve dos membros, cardiomegalia e sopro de estenose pulmonar também foram relatados. Foi descoberta pela primeira vez quando D. W. Hollister et al. descreveram 4 membros afetados pertencentes a uma família de 3 gerações. Nenhum novo caso foi relatado desde 1981. Esta doença é herdada de forma autossômica dominante.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
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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 — Síndrome de braquidactilia-polegar longo
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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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
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.
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
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.
Carpal Tunnel Decompression and Occupational Productivity: Assessing Post-Surgical Work Engagement and Absenteeism.
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.
[Tongue acupuncture for insomnia of liver qi stagnation syndrome: a case report].
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。.
"Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".
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.
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Carpal Tunnel Decompression and Occupational Productivity: Assessing Post-Surgical Work Engagement and Absenteeism.
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The journal of hand surgery Asian-Pacific volumeComparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
The application of clinical geneticsQuo vadis DSM-6? An expert survey on the classification, diagnosis, and differential diagnosis of body-focused repetitive behaviors.
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Upsala journal of medical sciencesEvaluation of the clinical features of an outpatient cohort with Marfan syndrome.
International journal of cardiologyA Rare Case of Synovial Chondromatosis in the Proximal Interphalangeal Joint of the Right Index Finger.
CureusRubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.
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International journal of molecular sciencesA Unique Clinical Presentation of Congenital Thumb Aplasia, Radioulnar Synostosis, and Chiari Malformation: A Potential Pediatric Syndromic Association.
CureusEndoscopic carpal tunnel release with opponensplasty using ring finger flexor digitorum superficialis under WALANT with ultrasound assistance.
Journal of hand and microsurgeryWhen 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 CardiologyPrenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.
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CureusCentral Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child.
CureusHolt-Oram Syndrome With Atrial Septal Defect.
CureusAn unusual presentation of pacifier thumb duplication with VACTERL association: Case report and review of literature.
International journal of surgery case reportsVariation in Interpretation of Provocative Tests for Carpal Tunnel Syndrome.
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CureusHealth impact of screen addiction: A cross-sectional comparative study.
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Plastic and reconstructive surgeryUnilateral Onychodystrophy and Puffy Fingers: Think about Carpal Tunnel Syndrome.
SkinmedPolybrachysyndactyly in all 4 extremities: Case report.
International journal of surgery case reportsPrevalence and sex differences in endoscopy-related injuries: comprehensive systematic review and meta-analysis.
iGIE : innovation, investigation and insightsRadiographic Edema Is a Predictor of de Quervain's Tenosynovitis.
Journal of wrist surgeryHybridized deep learning goniometry for improved precision in Ehlers-Danlos Syndrome (EDS) evaluation.
BMC medical informatics and decision makingEffect 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 researchEffects of the COVID-19 Pandemic on Hand and Arm Dysfunction: A Google Trends Analysis.
CureusValues and Diagnostic Accuracy of Electrodiagnostic Findings in Carpal Tunnel Syndrome Based on Age, Gender, and Diabetes.
Diagnostics (Basel, Switzerland)Secondary Linburg-Comstock syndrome post-trapeziectomy surgery.
BMJ case reportsCongenital Contractures and Fractures: A Variant of Bruck Syndrome Type 2.
CureusFetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.
Prenatal diagnosis[Click phenomenon in acquired Jaensch-Brown syndrome and trigger finger/thumb: the Notta syndrome].
Die OphthalmologieCancer risk in individuals with polydactyly: a Swedish population-based cohort study.
British journal of cancerThe Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.
GenesA novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.
Italian journal of pediatricsTownes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
Kidney international reportsCongenital nail abnormalities.
Hand surgery & rehabilitationThe yes-no reversal phenomenon in patients with primary progressive apraxia of speech.
Cortex; a journal devoted to the study of the nervous system and behaviorVisuotactile integration in individuals with fibromyalgia.
Frontiers in human neuroscienceOpposition Transfer Using the Extensor Indicis Muscle and the Extensor Pollicis Brevis Tendon.
Journal of hand surgery global onlinePerinatal 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 & gynecologyLiver cirrhosis in a patient with alcohol dependence and autoimmune hepatitis.
European review for medical and pharmacological sciencesA Case of Marfan Syndrome With Congenital Hip Dysplasia and Spine Abnormality.
CureusPrenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
European journal of medical geneticsEffectiveness of Tailor-Made Physiotherapy Protocol in Smartphone-Addicted Individuals With Text Neck Syndrome and Short Message Service (SMS) Thumb.
CureusAtrial fibrillation incidence after coronary artery bypass graft surgery and percutaneous coronary intervention: the prospective AFAF cohort study.
Scandinavian cardiovascular journal : SCJ[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 geneticsLong-term follow-up for the atypical radial longitudinal deficiency: A case report.
Congenital anomaliesSivelestat (Neutrophil Elastase Inhibitor) as an Anti-inflammatory and Anti-viral Agent: An In Silico Study.
CureusPediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review.
Clinical geneticsSuperficial 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 : SRAInvestigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia.
Journal of anatomyA novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.
Nephrology (Carlton, Vic.)De Quervain tendinitis after total trapeziometacarpal joint arthroplasty: Biomechanical evaluation of tendon excursion in the first extensor tendon compartment.
Hand surgery & rehabilitationModified Extensor Indicis Proprius Opponensplasty.
Techniques in hand & upper extremity surgeryHow Does ChatGPT Use Source Information Compared With Google? A Text Network Analysis of Online Health Information.
Clinical orthopaedics and related researchNail-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)Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.
International journal of molecular sciencesPotential 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 dermatologyA 23-year-old patient with bilateral hypoplastic thumbs and toes: A case report.
Clinical case reportsEstablishment 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 cellPrevalence of endoscopy-related injuries and their impact on clinical practice: a systematic review and meta-analysis.
Endoscopy[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...The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.
BMC musculoskeletal disordersAssociações
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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.
- The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
- Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
- Carpal Tunnel Decompression and Occupational Productivity: Assessing Post-Surgical Work Engagement and Absenteeism.
- [Tongue acupuncture for insomnia of liver qi stagnation syndrome: a case report].
- "Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".
- Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2946(Orphanet)
- MONDO:0007212(MONDO)
- GARD:968(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55780379(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