Raras
Buscar doenças, sintomas, genes...
Síndrome de microftalmia-microtia-acinesia fetal
ORPHA:2547CID-10 · Q68.8DOENÇA RARA

Síndrome dismórfica/anomalias congénitas múltiplas, letal, rara e caracterizada pela associação de sequência de acinesia fetal, microftalmia bilateral, microtia e truncus arteriosus persistente. Características dismórficas adicionais incluem fronte proeminente, nariz pequeno, micrognatia, e camptodactilia e sinfalangismo. Foram descritas contraturas de grandes articulações e micropénis.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Síndrome dismórfica/anomalias congénitas múltiplas, letais, raras e descritas pela associação de sequência de acinesia fetal, microftalmia bilateral, microtia e truncus arteriosus persistente. Características dismórficas adicionais incluem fronte proeminente, nariz pequeno, micrognatia, e camptodactilia e sinfalangismo. Foram descritas contraturas de grandes articulações e micropênis.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q68.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
3 sintomas
😀
Face
2 sintomas
🫘
Rins
2 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

90%prev.
Microftalmia
Muito frequente (99-80%)
90%prev.
Persistência do canal arterial
Muito frequente (99-80%)
90%prev.
Camptodactilia do dedo
Muito frequente (99-80%)
90%prev.
Micrognatia
Muito frequente (99-80%)
90%prev.
Bossas frontais
Muito frequente (99-80%)
90%prev.
Microtia
Muito frequente (99-80%)
15sintomas
Muito frequente (8)
Frequente (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.

MicroftalmiaMicrophthalmia
Muito frequente (99-80%)90%
Persistência do canal arterialPatent ductus arteriosus
Muito frequente (99-80%)90%
Camptodactilia do dedoCamptodactyly of finger
Muito frequente (99-80%)90%
MicrognatiaMicrognathia
Muito frequente (99-80%)90%
Bossas frontaisFrontal bossing
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202433 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano 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 microftalmia-microtia-acinesia fetal

🗺️

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

Timeline de publicações
0 papers (10 anos)
#1

Takotsubo Syndrome Following Inhalation of K4: A Case Report.

Cureus2026 Feb

Takotsubo syndrome (TS), also known as stress cardiomyopathy, is a clinical condition characterized by transient left ventricular dysfunction in the absence of coronary artery disease findings. The most widely accepted mechanism suggests a trigger, either physical or emotional stress, which causes catecholamine release and results in myocardial stunning and contractility alterations. Clinically and analytically, it can mimic acute coronary syndromes. Synthetic cannabinoids, such as the inhaled drug K4, are more powerful than phytocannabinoids and act as strong agonists of cannabinoid receptors, stimulating the sympathetic nervous system, which can serve as a trigger for TS. We report a case of a 59-year-old man with a personal history of schizophrenia and drug addiction, admitted to the emergency room for severe dyspnea and psychomotor agitation. Prior to the onset of symptoms, he had reportedly used the inhaled drug K4. Due to markedly elevated high-sensitivity troponin I and electrocardiographic changes suggestive of myocardial ischemia, an echocardiogram was performed, revealing severe left ventricular dysfunction with mid-apical akinesia of all cardiac walls. Cardiac catheterization showed no significant coronary disease. The patient was diagnosed with TS. After excluding other potential triggers, the use of inhaled K4 was considered the most likely trigger for TS.

#2

The role of adrenergic receptors and sex steroid hormones in takotsubo syndrome.

Physiology international2026 Feb 27

Takotsubo syndrome (also known as stress-induced cardiomyopathy or takotsubo cardiomyopathy) is an acute, reversible left ventricular dysfunction typically triggered by emotional or physical stress. TS is a rare but dangerous disease. In-hospital mortality in patients with TS is identical to mortality of patients with ST-segment elevation myocardial infarction. There is no obstructive coronary plaque or thrombosis in patients with TS, but there is injury of both cardiomyocytes and endothelial cells. The main manifestations of TS are apical akinesia and apical ballooning. The main cause of death in patients with TS is cardiogenic shock. The excessive release of endogenous catecholamines is a trigger of TS. There is evidence that TS is a consequence of β1-adrenergic receptor (β1-AR) overstimulation by catecholamines. The protein kinase A inhibitor H-89 partially reversed stress-induced cardiac injury in rats with TS model (TSM). The β2-AR antagonist ICI-118,551 exacerbated cardiac injury in TSM. The β2-AR agonist formoterol partially reversed cardiac injury in TSM. The β3-AR antagonist L-748337 had no effect on TSM. These findings indicate that the activation of β1-AR plays a key role in the pathogenesis of cardiac injury in TSM. In contrast, β2-AR stimulation protects the heart against stress-induced damage. However, there is evidence that β2-AR overstimulation can cause a negative inotropic effect. It remains unclear why β1-AR antagonists protect the heart against cardiac injury in TSM, but β1-AR antagonists do not demonstrate a significant clinical effect in patients with TS. Administration of isoproterenol and immobilization stress can be used for TSM, because both impacts induce apical akinesia, but only immobilization causes apical ballooning. There is indirect evidence on the involvement of progesterone in cardiac injury in TSM.

#3

Stone Heart Syndrome After Aortic Valve Replacement for Severe Aortic Stenosis: A Case Report.

Cureus2026 Jan

Stone heart syndrome (SHS) is a rare but catastrophic complication of cardiac surgery, characterized by irreversible ischemic myocardial contracture following prolonged global myocardial ischemia, and is almost uniformly fatal once established. We report the case of a 55-year-old woman with severe symptomatic aortic stenosis who underwent elective mechanical aortic valve replacement. Preoperative echocardiography showed preserved ventricular dimensions with low-normal systolic function. Due to technical difficulties during mini-sternotomy, a prolonged aortic cross-clamp time was required with repeated cardioplegia. Failure to wean from cardiopulmonary bypass was followed by complete left ventricular akinesia, immobile left-sided valves, and minimal right ventricular activity despite maximal support. Full sternotomy revealed a rigid, non-compliant myocardium consistent with SHS. Central veno-arterial extracorporeal membrane oxygenation was instituted without myocardial recovery. The patient died from multiorgan failure on postoperative day three. SHS results from profound myocardial ischemia, causing adenosine triphosphate depletion, calcium overload, and irreversible actin-myosin binding. Prevention, achieved through meticulous myocardial protection and strict minimization of ischemic time, remains the only effective strategy against this devastating and irreversible complication of cardiac surgery.

#4

Failure of Direct Oral Anticoagulation in Preventing Left Ventricular Thrombus Progression After Myocardial Infarction: A Case Report.

Reports (MDPI)2026 Feb 02

Background and Clinical Significance: Left ventricular thrombus formation after acute coronary syndrome represents a severe complication. Comprehensive echocardiographic assessment of the entire ventricle is essential, as regional wall motion abnormalities predispose to thrombus development. Although vitamin K antagonists have traditionally been the cornerstone of therapy, the convenience of direct oral anticoagulants has made them increasingly popular. However, the paucity of prospective data raises concerns regarding their general interchangeability. Case Presentation: We present a case of a basal left ventricular thrombus that rapidly progressed in size despite triple antithrombotic therapy including Apixaban. Conclusions: Following ACS, regional LV dysfunction predisposes to LVT formation-even in patients with only mild to moderate systolic impairment or non-apical akinesia. Although rare, LVT may also develop in basal and mid-ventricular segments. Anticoagulant selection should remain individualized, and short-term follow-up imaging is necessary to monitor therapeutic response.

#5

Characteristics of Swallowing Function in People with Parkinson's Disease: A Scoping Review.

Movement disorders : official journal of the Movement Disorder Society2026 Jan 08

Most individuals with Parkinson's disease (PD) develop dysphagia during the course of their disease. It is crucial to comprehensively understand swallowing characteristics specific to PD for effective treatment. To systematically analyze and synthesize swallowing characteristics in people with PD compared with healthy controls and to summarize the assessment methods used. This scoping review was conducted in accordance with the Joanna Briggs Institute's (JBI) methodology. Systematic searches were conducted across six databases and one clinical trial registry. Original research articles reporting swallowing characteristics in cohorts comprising at least three individuals with PD were included. Studies published in English or German from the inception of the databases up to February 2024 were considered for inclusion. Independent reviewers assessed articles for eligibility and extracted relevant data. The scoping review protocol was registered and published (Open Science Framework, https://osf.io/8b3hm). Swallowing characteristics and assessment methods were systematically categorized. Significant characteristics, consistent across at least two studies, were included in the final analysis. Analysis included 46 studies with 1797 PD participants aged 35-85 years. Nineteen distinct oropharyngeal swallowing characteristics in individuals with PD were identified. Instrumental assessments (39/46, 85%), clinical assessments (10/46, 22%), and patient-related outcome measures (PROMs) (7/46, 15%) were used. Relevant swallowing abnormalities in PD can largely be interpreted as manifestations of bradykinesia, hypokinesia, and akinesia, supporting the view that dysphagia in PD constitutes a complex motor syndrome. Future research should aim to better characterize the manifestations within this syndrome and elucidate its underlying pathology. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Takotsubo Syndrome Following Inhalation of K4: A Case Report.

Cureus
2026

The role of adrenergic receptors and sex steroid hormones in takotsubo syndrome.

Physiology international
2026

Stone Heart Syndrome After Aortic Valve Replacement for Severe Aortic Stenosis: A Case Report.

Cureus
2026

Failure of Direct Oral Anticoagulation in Preventing Left Ventricular Thrombus Progression After Myocardial Infarction: A Case Report.

Reports (MDPI)
2025

Takotsubo Cardiomyopathy With Markedly Elevated Troponin Triggered by Acute Psychosis: A Case Report.

Cureus
2026

Characteristics of Swallowing Function in People with Parkinson's Disease: A Scoping Review.

Movement disorders : official journal of the Movement Disorder Society
2025

Pseudoparalysis in Infantile Vitamin B12 Deficiency.

Annals of Indian Academy of Neurology
2025

A Case Report of Takotsubo Cardiomyopathy Masquerading as Acute Coronary Syndrome: A Diagnostic Challenge.

Cureus
2026

Real-world pharmacovigilance and clinical risks of fluvoxamine: A disproportionality analysis based on FAERS data.

Journal of affective disorders
2025

Levodopa-Carbidopa-Entacapone Intestinal Gel for Advanced Parkinson's Disease-Results from a Monocentric Study Evaluating Both Motor and Non-Motor Manifestations.

Biomedicines
2025

SMA-like syndrome without SMA lesion: Patterns of structural and functional disconnection in a relapsing low grade glioma.

Cortex; a journal devoted to the study of the nervous system and behavior
2025

Severe Hyponatremia-Induced Takotsubo Cardiomyopathy.

Cureus
2025

Case Report: Onset of Takotsubo syndrome during a heart rehabilitation session.

Frontiers in cardiovascular medicine
2025

DOK7 Gene Novel Homozygous Mutation is Related to Fetal Akinesia Deformation Sequence 3.

Journal of obstetrics and gynaecology of India
2025

Arthrogryposis Multiplex Congenita Discovered at Birth: A Case Report.

Cureus
2025

The Genetic Background of the Immunological and Inflammatory Aspects of Progressive Supranuclear Palsy.

International journal of molecular sciences
2025

The evolving genetic landscape of neuromuscular fetal akinesias.

Journal of neuromuscular diseases
2025

Magnetic Resonance Imaging in the Neuroimaging of Progressive Supranuclear Palsy-Parkinsonism Predominant: Limitations and Strengths in Clinical Evaluation.

Diagnostics (Basel, Switzerland)
2025

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

American journal of medical genetics. Part A
2025

The Pena-Shokeir Syndrome in a Twin Pregnancy: A Rare Case Report.

Clinical medicine insights. Case reports
2025

Prospective comparison of temporal changes in myocardial function in women with Takotsubo versus anterior STEMI.

Clinical research in cardiology : official journal of the German Cardiac Society
2025

Psychomotor disadaptation syndrome: a scoping review.

European geriatric medicine
2025

An interesting case of subacute sclerosing panencephalitis presenting with Balint's syndrome and dysautonomia.

Encephalitis (Seoul, Korea)
2025

Parkinsonism associated with prolonged unresponsive wakefulness syndrome after blunt head injury: a clinico-pathological study.

Free neuropathology
2025

Temperature and repeated catecholamine surges modulate regional wall motion abnormalities in a rodent takotsubo syndrome model.

Scientific reports
2025

Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence.

Clinical dysmorphology
2025

Connectome imaging to facilitate preservation of the frontal aslant tract.

Clinical neurology and neurosurgery
2025

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

American journal of medical genetics. Part A
2025

ECEL1 mutation in distal arthrogryposis type 5D: A case report.

European journal of obstetrics, gynecology, and reproductive biology
2024

Quality of life in patients with progressive supranuclear palsy: a review of literature and implications for practice.

Frontiers in neurology
2024

Echocardiography as a Useful Tool for Differentiating Acute Pulmonary Embolism From Acute Coronary Syndrome: A Case Report.

Cureus
2024

The broad spectrum of malignant syndromes.

Neurobiology of disease
2024

Takotsubo Cardiomyopathy After Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy for a Recurrent Colon Cancer: A Life-Threatening Complication.

Diagnostics (Basel, Switzerland)
2024

Takotsubo Syndrome Triggered by Acute Myocardial Infarction.

Cureus
2023

Broken Heart Syndrome: A Rare Case of Recurrent Reverse Takotsubo Cardiomyopathy Associated with Acute Respiratory Failure.

Galen medical journal
2024

Unique Clinical and Psychiatric Challenges in Elderly Patients With Guillain-Barré Syndrome: A Case Series.

Cureus
2024

Generation of a heterozygous Calsequestrin 2 F189L iPSC line (UMGi158-B) by CRISPR/Cas9 genome editing to investigate the cardiac pathophysiology of Takotsubo Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia.

Stem cell research
2024

Subcutaneous foslevodopa in akinetic crisis. A case report from the neurological intensive care unit.

Frontiers in medicine
2024

Unmasking the Intricate Association Between Takotsubo Syndrome, Atrial Fibrillation, and Diabetes Mellitus: A Case Report and Literature Review.

Cureus
2024

Akinetic crisis and withdrawal syndromes: guideline "Parkinson's disease" of the German Society of Neurology.

Journal of neurology
2024

Congenital myasthenic syndromes.

Handbook of clinical neurology
2024

Pediatric neuromuscular channelopathies.

Handbook of clinical neurology
2024

The akinetic crisis in Parkinson´s disease- the upper end of a spectrum of subacute akinetic states.

Journal of neural transmission (Vienna, Austria : 1996)
2025

Dopa-responsive Rest Tremor Preceding Tachyphemia in Progressive Supranuclear Palsy.

Internal medicine (Tokyo, Japan)
2024

Patterns of brain volume and metabolism predict clinical features in the progressive supranuclear palsy spectrum.

Brain communications
2024

The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.

Neurogenetics
2024

Development of a small animal model replicating core characteristics of takotsubo syndrome in humans.

European heart journal open
2024

Identification of four TTN variants in three families with fetal akinesia deformation sequence.

BMC medical genomics
2024

Differential diagnosis and prognosis of delayed neuropsychiatric sequelae after acute carbon monoxide poisoning in a patient with schizophrenia: A case report.

PCN reports : psychiatry and clinical neurosciences
2024

Too little or too much nocturnal movements in Parkinson's disease: A practical guide to managing the unseen.

Clinical parkinsonism &amp; related disorders
2024

Τakotsubo Syndrome After Surgical Removal of the Thyroid Gland and Major Bleeding.

Cureus
2024

Takotsubo Syndrome After Alcohol Withdrawal in a Patient With Suspected Alcoholic Cardiomyopathy.

Cureus
2024

Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.

Prenatal diagnosis
2024

Progression to corticobasal syndrome: a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech.

Journal of neurology
2024

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.

HGG advances
2024

[MINOCA and Coronary Ectasia: a rare combination of causes of infarction].

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2024

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

Prenatal diagnosis
2024

Movement disorders associated with pediatric encephalitis.

Handbook of clinical neurology
2024

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Prenatal diagnosis
2024

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Clinical genetics
2024

Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence.

Scientific reports
2024

Examining the Features of Neuroleptic Malignant Syndrome in Anti-NMDA Receptor Encephalitis: A Case-Control Study.

Journal of the Academy of Consultation-Liaison Psychiatry
2023

Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.

Prenatal diagnosis
2023

SHARK FIN ECG PATTERN IN A PATIENT WITH TAKOTSUBO SYNDROME - CASE STUDY AND LITERATURE REVIEW.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2023

Foetal Akinesia Deformation Sequence: A Rare Lethal Entity.

JPMA. The Journal of the Pakistan Medical Association
2023

Case of takotsubo cardiomyopathy after surgical treatment of liver hydatid cyst: A case report.

World journal of clinical cases
2024

Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.

American journal of medical genetics. Part A
2024

Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.

Clinical genetics
2023

Neuroprotective potential of Cordia dichotoma in Parkinson's syndrome induced by haloperidol: An animal study.

Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society
2023

Wernicke's Encephalopathy and Serotonin Syndrome: A Case Report of Overlapping Pathologies.

The Journal of pharmacy technology : jPT : official publication of the Association of Pharmacy Technicians
2023

Frontal lobe motor syndromes.

Handbook of clinical neurology
2023

Connectomics as a prognostic tool of functional outcome in glioma surgery of the supplementary motor area: illustrative case.

Journal of neurosurgery. Case lessons
2023

Catecholamine-induced Takotsubo syndrome: a case series.

European heart journal. Case reports
2023

Inter- and intra-observer variability in the echocardiographic evaluation of wall motion abnormality in patients with ST-elevation myocardial infarction or takotsubo syndrome - A novel approach.

Echocardiography (Mount Kisco, N.Y.)
2023

Cardiogenic shock due to reverse takotsubo syndrome triggered by multiple sclerosis brainstem lesions: a case report and mini review.

Frontiers in cardiovascular medicine
2023

Classic Unprovoked Takotsubo Syndrome: A Case Report.

Cureus
2023

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.

Journal of medical genetics
2023

Factors contributing to sleep disturbances and excessive daytime sleepiness in patients with Parkinson's disease.

Frontiers in neurology
2023

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

American journal of medical genetics. Part A
2023

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Brain : a journal of neurology
2023

Anesthesia-induced Takotsubo cardiomyopathy in trigeminal neuralgia: illustrative case.

Journal of neurosurgery. Case lessons
2023

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.

American journal of medical genetics. Part A
2023

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

American journal of medical genetics. Part A
2023

Role of interhemispheric connectivity in recovery from postoperative supplementary motor area syndrome in glioma patients.

Journal of neurosurgery
2022

Takotsubo Cardiomyopathy as a Cardiovascular Manifestation of COVID-19: A Case Report and Literature Review.

Cureus
2022

Molecular Mechanisms of Takotsubo Syndrome.

International journal of molecular sciences
2023

What's behind your eosinophilic myocarditis? A case of Churg-Strauss syndrome diagnosed during acute heart failure.

ESC heart failure
2022

[Anaesthesia and Perioperative Management for Patients with Parkinson's Disease].

Anasthesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS
2022

Neostigmine Treats Postoperative Akinesia in a Restless Legs Syndrome Patient.

Asian journal of anesthesiology
2023

Demographic Features, Physical Examination Findings, and Medication Use in Hospitalized, Delirious Patients With and Without COVID-19 Infection: A Retrospective Study.

Journal of the Academy of Consultation-Liaison Psychiatry
2022

Management of Sleep Disturbances in Parkinson's Disease.

Journal of Parkinson's disease
2022

Clinical Spectrum of Tauopathies.

Frontiers in neurology
2022

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Journal of clinical medicine
2022

Inverted Takotsubo Following a Ruptured Ectopic Pregnancy, Treated with Levosimendan.

Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine
2022

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.

American journal of medical genetics. Part A
2022

Case Report: Acute Heart Failure Induced by the Combination of Takayasu's, Takotsubo and Coronary Vasospasm in an Elementary School Teacher-A Reaction to Return-to-Work Stress After COVID-19?

Frontiers in psychiatry
2022

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Prenatal diagnosis
2022

Complete Heart Block Causing Takotsubo Syndrome: A Case Report.

Cureus
2022

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Neuromuscular disorders : NMD
2023

Iatrogenic adrenaline induced mid-ventricular Takotsubo cardiomyopathy: a case-based review.

Irish journal of medical science
2022

Amyoplasia in monochorionic monozygotic pregnancy following interstitial laser.

American journal of medical genetics. Part A
2022

Congenital Dislocation of the Knee: Idiopathic or Arthrogryposis?

Cureus
2022

Takotsubo Syndrome: Translational Implications and Pathomechanisms.

International journal of molecular sciences
2022

Lethal Restrictive Dermopathy with ZMPSTE24 Mutation.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2022

[Hallucinations in Patients with Idiopathic Parkinson's Disease].

Fortschritte der Neurologie-Psychiatrie
2021

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita.

Fetal diagnosis and therapy
2021

Acupuncture-Induced Tension Pneumothorax Presenting as Acute Heart Failure.

Case reports in cardiology
2021

Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.

Molecular genetics &amp; genomic medicine
2021

Takotsubo syndrome as an overlooked and elusive cause of a single episode of dyspnea in young women: a case report.

BMC cardiovascular disorders
2021

Sacubitril/valsartan decreases mortality in the rat model of the isoprenaline-induced takotsubo-like syndrome.

ESC heart failure
2021

Emergency cardiac imaging for coronavirus disease 2019 (COVID-19) in practice: a case of takotsubo stress cardiomyopathy.

Cardiovascular ultrasound
2021

Takotsubo syndrome: hyperthyroidism, pheochromocytoma, or both? A case report.

European heart journal. Case reports
2021

Periscopic technique in Norwood operation is associated with better preservation of early ventricular function.

JTCVS techniques
2021

Veno-arterial extracorporeal membrane oxygenation for severe fever with thrombocytopenia syndrome with fulminant myocarditis: a case report.

BMC infectious diseases
2022

Pallidal degenerations and related disorders: an update.

Journal of neural transmission (Vienna, Austria : 1996)
2021

Successful Percutaneous Balloon Angioplasty in a Patient Presenting With STEMI and Acute Intracranial Hemorrhage.

Cureus
2021

A case report of takotsubo syndrome complicated by ischaemic stroke: the clinical dilemma of anticoagulation.

European heart journal. Case reports
2020

Cardiogenic Shock due to COVID-19-Related Myocarditis in a 19-Year-Old Autistic Patient.

Journal of medical cases
2021

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

AJNR. American journal of neuroradiology
2021

Case Report: Congenital Arthrogryposis and Unilateral Absences of Distal Arm in Congenital Zika Syndrome.

Frontiers in medicine
2021

Fetal akinesia: The application of clinical exome sequencing in cases with decreased fetal movement.

European journal of obstetrics, gynecology, and reproductive biology
2021

Case Report: Takotsubo Syndrome Associated With Novel Coronavirus Disease 2019.

Frontiers in cardiovascular medicine
2021

Deformations associated with arthrogryposis.

American journal of medical genetics. Part A
2022

Deciphering the saccade velocity profile of progressive supranuclear palsy: A sign of latent cerebellar/brainstem dysfunction?

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2021

Dynamic left ventricular outflow tract obstruction in a patient with acute coronary syndrome and without the apical akinesia: Potential alternative mechanisms causing a dynamic left ventricular outflow tract obstruction other than a compensatory basal hyperkinesis.

Echocardiography (Mount Kisco, N.Y.)
2021

Takotsubo syndrome associated with autoimmune limbic encephalitis: a case report.

BMC cardiovascular disorders
2021

A case report of coronary artery spasm and takotsubo syndrome: exploring the hidden side of the moon.

European heart journal. Case reports
2021

Recurrent Takotsubo cardiomyopathy triggered by emotionally stressful events: A case report.

World journal of clinical cases
2020

Postoperative supplementary motor area syndrome: clinical evolution and prognosis in nine patients after left hemispheric tumor resection.

Hippokratia
2020

A case of pulseless electrical activity due to takotsubo syndrome following radiofrequency catheter ablation for atrial fibrillation.

Journal of cardiology cases
2021

CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.

American journal of medical genetics. Part A
2021

COFS type 3 in an Indian family with antenatally detected arthrogryposis.

American journal of medical genetics. Part A
2021

Cannabis in Parkinson's Disease: The Patients' View.

Journal of Parkinson's disease
2020

Case report: spontaneous coronary artery dissection and suspicion of takotsubo cardiomyopathy in a patient presenting with T-wave inversions, severe QTc prolongation, elevated cardiac biomarkers, and apical akinesia.

European heart journal. Case reports
2020

Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts.

Scientific reports
2020

A man in his fifties with increasing motor fluctuations, sleep impairment and altered mental status.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
2021

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Journal of medical genetics
2020

Takotsubo Syndrome in Patients with COVID-19: a Systematic Review of Published Cases.

SN comprehensive clinical medicine
2020

A new phenotype of choreic syndrome associating severe freezing of gait and chorea.

Clinical case reports
2020

Basal Takotsubo syndrome with transient severe mitral regurgitation caused by drug use: a case report.

European heart journal. Case reports
2020

Reverse takotsubo cardiomyopathy in fulminant COVID-19 associated with cytokine release syndrome and resolution following therapeutic plasma exchange: a case-report.

BMC cardiovascular disorders
2020

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

American journal of medical genetics. Part A
2020

Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.

Prenatal diagnosis
2020

The importance of heart rate in isoprenaline-induced takotsubo-like cardiac dysfunction in rats.

ESC heart failure
2020

Takotsubo Cardiomyopathy in an Alzheimer Disease Patient: The Potential Contribution of Antidepressant Agents.

Alzheimer disease and associated disorders
2020

Recurrent takotsubo syndrome with worsening of left ventricular outflow obstruction during haemodialysis: a case report.

European heart journal. Case reports
2020

Progressive Supranuclear Palsy-Parkinsonism Predominant (PSP-P)-A Clinical Challenge at the Boundaries of PSP and Parkinson's Disease (PD).

Frontiers in neurology
2020

[Psychomotor disadaptation syndrome].

Revue medicale de Liege
2020

Mortal consequences of a cooperative action between Takotsubo syndrome and increased intracranial pressure.

ESC heart failure
2020

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.

Cell calcium
2020

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.

American journal of medical genetics. Part A
2020

Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.

Journal of clinical ultrasound : JCU
2019

A rare case of takotsubo syndrome within the first day after heart transplantation.

Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace
2019

An Emerging Cardiovascular Disease: Takotsubo Syndrome.

BioMed research international
2019

Progressive supranuclear palsy.

International review of neurobiology
2019

Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report.

World journal of clinical cases
2020

Diagnostic accuracy of MRI parameters in pure akinesia with gait freezing.

Journal of neurology
2020

Null variants in AGRN cause lethal fetal akinesia deformation sequence.

Clinical genetics
2020

Postoperative isolated lower extremity supplementary motor area syndrome: case report and review of the literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.

Case reports in obstetrics and gynecology
2019

[Progressive supranuclear palsy-Richardson syndrome with visual attention disturbance (Holmes and Horrax) and ataxie optique (Garcin): a case report].

Rinsho shinkeigaku = Clinical neurology
2019

Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2019

An Evaluation of the Progressive Supranuclear Palsy Speech/Language Variant.

Movement disorders clinical practice
2019

Are PSP patients included in clinical trials representative of the general PSP population?

Parkinsonism &amp; related disorders
2019

The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.

Human mutation
2019

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

Prenatal diagnosis
2019

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Human mutation
2019

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.

Experimental neurology
2019

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

American journal of medical genetics. Part A
2019

Omalizumab induced Takotsubo syndrome: case report.

European heart journal. Case reports
2019

Takotsubo cardiomyopathy and coronary artery disease: value of cardiac magnetic resonance imaging for diagnostic confirmation: a case report.

European heart journal. Case reports
2019

Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging.

Cortex; a journal devoted to the study of the nervous system and behavior
2019

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

American journal of medical genetics. Part A
2019

Self-reported urinary impairment identifies 'fast progressors' in terms of neuronal loss in multiple system atrophy.

Autonomic neuroscience : basic &amp; clinical
2020

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

European journal of medical genetics
2020

Regional Anesthesia for Pediatric Ophthalmic Surgery: A Review of the Literature.

Anesthesia and analgesia
2019

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

American journal of medical genetics. Part A
2019

Effects of pretreatment with cardiostimulants and beta-blockers on isoprenaline-induced takotsubo-like cardiac dysfunction in rats.

International journal of cardiology
2019

Modulation of specific components of sleep disturbances by simultaneous subthalamic and nigral stimulation in Parkinson's disease.

Parkinsonism &amp; related disorders
2019

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

Prenatal diagnosis
2018

Anesthesia for patient with anti-N-methyl-D-aspartate receptor encephalitis: A case report with a brief review of the literature.

Medicine
2019

NMDAR encephalitis presenting as akinesia in a patient with Parkinson disease.

Journal of neuroimmunology
2019

Hypertrophic cardiomyopathy with dynamic obstruction and high left ventricular outflow gradients associated with paradoxical apical ballooning.

Echocardiography (Mount Kisco, N.Y.)
2018

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.

PLoS genetics
2018

Pena-Shokeir syndrome: current management strategies and palliative care.

The application of clinical genetics
2018

Heterogeneity of clinical presentation in Tako-Tsubo syndromes: the prevalence of normal segmental wall motion and normal ECG pattern.

Journal of cardiovascular medicine (Hagerstown, Md.)
2019

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Clinical dysmorphology
2019

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.

Genetics in medicine : official journal of the American College of Medical Genetics
2018

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

American journal of human genetics
2018

The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.

American journal of medical genetics. Part A
2018

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia.

European journal of obstetrics, gynecology, and reproductive biology
2018

The Hamburg Parkinson day-clinic: a new treatment concept at the border of in- and outpatient care.

Journal of neural transmission (Vienna, Austria : 1996)
2018

Nutritional ketosis delays the onset of isoflurane induced anesthesia.

BMC anesthesiology
2018

Genetics of neuromuscular fetal akinesia in the genomics era.

Journal of medical genetics
2018

Prospective Characterization of Cognitive Function in Typical and 'Brainstem Predominant'Progressive Supranuclear Palsy Phenotypes.

Journal of movement disorders
2018

Altered myocardial characteristics of the preexcited segment in Wolff-Parkinson-White syndrome: A pilot study with cardiac magnetic resonance imaging.

PloS one
2018

Takotsubo Cardiomyopathy Mimicking Stent Thrombosis After Percutaneous Coronary Intervention.

Journal of investigative medicine high impact case reports
2018

Takotsubo Cardiomyopathy Developed After Two-stage Surgery for Double Primary Lung Cancer.

Anticancer research
2018

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Pediatric radiology
2018

The crossed frontal aslant tract: A possible pathway involved in the recovery of supplementary motor area syndrome.

Brain and behavior

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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. Takotsubo Syndrome Following Inhalation of K4: A Case Report.
    Cureus· 2026· PMID 41788115mais citado
  2. The role of adrenergic receptors and sex steroid hormones in takotsubo syndrome.
    Physiology international· 2026· PMID 41758235mais citado
  3. Stone Heart Syndrome After Aortic Valve Replacement for Severe Aortic Stenosis: A Case Report.
    Cureus· 2026· PMID 41728424mais citado
  4. Failure of Direct Oral Anticoagulation in Preventing Left Ventricular Thrombus Progression After Myocardial Infarction: A Case Report.
    Reports (MDPI)· 2026· PMID 41718298mais citado
  5. Characteristics of Swallowing Function in People with Parkinson's Disease: A Scoping Review.
    Movement disorders : official journal of the Movement Disorder Society· 2026· PMID 41508417mais citado
  6. Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
    Orphanet J Rare Dis· 2024· PMID 38321498recente
  7. Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.
    Orphanet J Rare Dis· 2022· PMID 35246173recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2547(Orphanet)
  2. MONDO:0043143(MONDO)
  3. GARD:3650(GARD (NIH))
  4. Busca completa no PubMed(PubMed)

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

Compêndio · Raras BR

Síndrome de microftalmia-microtia-acinesia fetal

ORPHA:2547 · MONDO:0043143
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
Q68.8 · Outras deformidades osteomusculares congênitas
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2931224
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