Uma síndrome muito rara que causa múltiplas contraturas congênitas, ou seja, as articulações já nascem presas ou com movimento limitado. Ela é caracterizada por uma boca pequena com formato de assobio, um rosto com características marcantes, pé torto e outras contraturas nas articulações. A FSS é a forma mais grave de artrogripose distal, que é um tipo de condição que causa encurtamento nas articulações, principalmente das mãos e pés.
Introdução
O que você precisa saber de cara
Uma síndrome muito rara que causa múltiplas contraturas congênitas, ou seja, as articulações já nascem presas ou com movimento limitado. Ela é caracterizada por uma boca pequena com formato de assobio, um rosto com características marcantes, pé torto e outras contraturas nas articulações. A FSS é a forma mais grave de artrogripose distal, que é um tipo de condição que causa encurtamento nas articulações, principalmente das mãos e pés.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 94 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Muscle contraction
Cytoplasm, myofibril
Arthrogryposis, distal, 2A
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin.
Voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (PubMed:17448995, PubMed:31409833). NALCN channel functions as a multi-protein complex, which consists at least of NALCN, NALF1, UNC79 and UNC80 (PubMed:32494638, PubMed:33203861). NALCN is the voltage-sensing, pore-forming subunit of the NALCN channel complex (PubMed:17448995). NALCN channel complex is constitutively active and conducts monovalent cations but is blocked by physiological
Cell membrane
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies.
Variantes genéticas (ClinVar)
784 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 200 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
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 Freeman-Sheldon
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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
Ensaios em destaque
Pesquisa e ensaios clínicos
5 ensaios clínicos encontrados.
Publicações mais relevantes
Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective.
Freeman-Sheldon syndrome is a rare form of multiple congenital contracture syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis. The main skeletal malformations include camptodactyly with ulnar deviation and talipes equinovarus while facial characteristics include deep-sunken eyes with hypertelorism, increased philtrum length, small nose and nostrils, and a small mouth. Here we report a rare case of Freeman-Sheldon syndrome (FSS) in an 8-years-old patient giving emphasis on the dental management of FSS.
Comprehensive Orthodontic Therapy and Retention Protocol in Freeman-Sheldon Syndrome: A Case Report.
Freeman-Sheldon syndrome (FSS) is a rare congenital disorder with craniofacial and musculoskeletal abnormalities, presenting unique orthodontic challenges due to microstomia and restricted oral access. This case report describes the successful non-surgical orthodontic management of a 15-year-old girl with severe crowding using pre-adjusted edgewise appliances. Favorable alignment and functional occlusion were achieved, and a customized retention protocol combining Essix and fixed lingual retainers ensured stability.
Strategies for Improving Case Reports Involving Patients With Rare Diseases.
For those treating patients with rare diseases, there may be a disproportionate clinical reliance on the literature, compared with those treating patients with common problems. Moreover, the rare disease literature consists of a preponderance of case reports. Together, these factors place a higher burden for accuracy on authors of case reports of patients with rare diseases. Our decades of experience with the rare congenital craniofacial myopathy, Freeman-Sheldon syndrome-now, Freeman-Burian syndrome, and other rare diseases suggests that accurate and current information may not efficiently proliferate in the rare disease literature-a potentially significant clinical and scholarly concern. Based on our experience of reading case reports of patients with Freeman-Burian syndrome, we suggest mutually supporting mitigation strategies. Our quality-improvement strategies for rare disease case reports emphasize a careful search of recent literature, not exclusively case reports, in-person clinical experience with the patient described, and involvement of a rare disease expert as bedrocks for improving case report accuracy. We propose that objectively demonstrating the patient's findings relative to an accepted diagnostic criteria, presenting the clinical course within a known disease mechanism, cautiously proposing a new one, and adhering to the relevant case report guidelines can help construct a stronger case report. We hope the wide dissemination of these quality improvement strategies among authors, editors, peer reviewers, and readers will improve the accuracy and completeness of case reports involving rare diseases to ensure the best chances for advancing clinical care and science for this often marginalized patient population.
Unsafe Care and Fake News in Freeman-Burian Syndrome.
Freeman-Burian syndrome is a rare craniofacial syndrome surrounded by fake news. This situation shows the strong connection between the quality of a literature search and clinical reasoning displayed in patient care, especially in care of patients with rare conditions.
UNC-45 assisted myosin folding depends on a conserved FX3HY motif implicated in Freeman Sheldon Syndrome.
Myosin motors are critical for diverse motility functions, ranging from cytokinesis and endocytosis to muscle contraction. The UNC-45 chaperone controls myosin function mediating the folding, assembly, and degradation of the muscle protein. Here, we analyze the molecular mechanism of UNC-45 as a hub in myosin quality control. We show that UNC-45 forms discrete complexes with folded and unfolded myosin, forwarding them to downstream chaperones and E3 ligases. Structural analysis of a minimal chaperone:substrate complex reveals that UNC-45 binds to a conserved FX3HY motif in the myosin motor domain. Disrupting the observed interface by mutagenesis prevents myosin maturation leading to protein aggregation in vivo. We also show that a mutation in the FX3HY motif linked to the Freeman Sheldon Syndrome impairs UNC-45 assisted folding, reducing the level of functional myosin. These findings demonstrate that a faulty myosin quality control is a critical yet unexplored cause of human myopathies.
Publicações recentes
Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective.
Comprehensive Orthodontic Therapy and Retention Protocol in Freeman-Sheldon Syndrome: A Case Report.
Strategies for Improving Case Reports Involving Patients With Rare Diseases.
A Case of Freeman-Sheldon Syndrome With Glaucoma Successfully Treated by Trabeculotomy Using the Kahook Dual Blade.
Unsafe Care and Fake News in Freeman-Burian Syndrome.
📚 EuropePMC146 artigos no totalmostrando 60
Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective.
Prague medical reportComprehensive Orthodontic Therapy and Retention Protocol in Freeman-Sheldon Syndrome: A Case Report.
CureusStrategies for Improving Case Reports Involving Patients With Rare Diseases.
CureusA Case of Freeman-Sheldon Syndrome With Glaucoma Successfully Treated by Trabeculotomy Using the Kahook Dual Blade.
CureusUnsafe Care and Fake News in Freeman-Burian Syndrome.
Clinical case reportsUNC-45 assisted myosin folding depends on a conserved FX3HY motif implicated in Freeman Sheldon Syndrome.
Nature communicationsBi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Clinical geneticsPrenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report.
Revista colombiana de obstetricia y ginecologiaHomologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Proceedings of the National Academy of Sciences of the United States of AmericaIdentification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.
Prenatal diagnosisAnesthetic management of a pediatric patient with Freeman-Sheldon syndrome undergoing atrial septal defect closure: a case report.
JA clinical reportsHomologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
bioRxiv : the preprint server for biologyRe: "Periocular Anomalies in Freeman-Sheldon Syndrome".
Ophthalmic plastic and reconstructive surgeryPeriocular Anomalies in Freeman-Sheldon Syndrome.
Ophthalmic plastic and reconstructive surgeryOculoplastic surgery, diagnosis, and other matters in Freeman-Burian syndrome.
Ophthalmic geneticsFreeman-Sheldon Syndrome with Stiff Knee Gait - A Case Report.
Journal of orthopaedic case reportsEmergent Cesarean Delivery in a Patient With Freeman-Sheldon Syndrome Complicated by Preeclampsia, Acute Pulmonary Embolism, and Pulmonary Edema: A Case Report.
CureusA case of blepharophimosis: Freeman Sheldon syndrome.
Ophthalmic geneticsAnesthetic management of a patient with Freeman-Sheldon syndrome undergoing oral surgery: A case report.
Clinical case reportsNorthwest Indigenous Art and the Inspiring Spirits.
American journal of medical genetics. Part C, Seminars in medical geneticsNovel ophthalmic features of Freeman-Sheldon syndrome.
Journal francais d'ophtalmologieProlonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome.
Biophysical journalLetter: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70).
Annals of rehabilitation medicineDrosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism.
Skeletal muscleIdentification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment.
Journal of pediatric geneticsPrecise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency.
Annals of rehabilitation medicineAnesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review.
AANA journalIdentification and Recent Approaches for Evaluation and Management of Dentofacial and Otolaryngologic Concerns for Patients With Freeman-Burian Syndrome: Principles for Global Treatment.
The Journal of craniofacial surgeryIdentification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment.
The Journal of craniofacial surgeryEpidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data.
Systematic reviewsNonoperative Orthodontic Therapy for Retrognathia and Finding of Sella Turcica Bridging in a 16-Year-Old Girl With Freeman-Burian Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMyosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila.
Developmental biologyThe Obv-Eas Method: An Easy Way to Facilitate Fiberoptic Intubation in Pediatric Patients: Case of an Infant with Freeman-Sheldon Syndrome.
Anesthesiology and pain medicineRevisiting the Many Names of Freeman-Sheldon Syndrome.
The Journal of craniofacial surgeryReductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman-Sheldon syndrome.
Molecular biology of the cellGenetic disorder plus prematurity: a diagnostic challenge.
Archives of disease in childhood. Education and practice editionAnesthetic management of a patient with Freeman-Sheldon syndrome in thoracic surgery.
Journal of clinical anesthesiaAnesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery.
Case reports in anesthesiologyPhenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.
Clinical dysmorphologyHead First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
American journal of medical genetics. Part AFreeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.
Case reports in geneticsFindings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.
Systematic reviewsDr Ben Franklin and an unusual modern-day cure for recurrent pleuritis.
The British journal of general practice : the journal of the Royal College of General PractitionersA unique and often overlooked cause of Blepharophimosis: "Whistling face syndrome".
Orbit (Amsterdam, Netherlands)Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction.
The Journal of craniofacial surgeryDiagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
American journal of medical genetics. Part ANovel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
NeuropediatricsA Case of Freeman-Sheldon Syndrome: Anesthetic Challenges.
Journal of the Mississippi State Medical AssociationAnesthetic considerations in a parturient with Freeman-Sheldon syndrome.
International journal of obstetric anesthesiaMolecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
American journal of medical genetics. Part AThe Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.
The Journal of biological chemistryFreeman-Sheldon syndrome: a case report.
European journal of paediatric dentistryFreeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.
BMJ case reportsExome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Prenatal diagnosisBilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus.
BMJ case reportsPreliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.
BMJ case reportsThe embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
Human molecular geneticsDe novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
American journal of human genetics[The application of exome sequencing in human disease].
Yi chuan = HereditasAssociações
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Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective.
- Comprehensive Orthodontic Therapy and Retention Protocol in Freeman-Sheldon Syndrome: A Case Report.
- Strategies for Improving Case Reports Involving Patients With Rare Diseases.
- Unsafe Care and Fake News in Freeman-Burian Syndrome.
- UNC-45 assisted myosin folding depends on a conserved FX3HY motif implicated in Freeman Sheldon Syndrome.
- A Case of Freeman-Sheldon Syndrome With Glaucoma Successfully Treated by Trabeculotomy Using the Kahook Dual Blade.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2053(Orphanet)
- OMIM OMIM:193700(OMIM)
- MONDO:0008675(MONDO)
- GARD:6466(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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
