Raras
Buscar doenças, sintomas, genes...
Síndrome de glabela proeminente-microcefalia-hipogenitalismo
ORPHA:2083CID-10 · Q87.8OMIM 247990DOENÇA RARA

Microcefalia proeminente da glabela B O hipogenitalismo B é uma síndrome muito rara descrita em dois irmãos e caracterizada por início pré-natal de deficiência de crescimento, microcefalia, genitália hipoplásica e início de convulsões no nascimento.

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Introdução

O que você precisa saber de cara

📋

Microcefalia proeminente da glabela B O hipogenitalismo B é uma síndrome muito rara descrita em dois irmãos e caracterizada por início pré-natal de deficiência de crescimento, microcefalia, genitália hipoplásica e início de convulsões no nascimento.

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: Q87.8
🇧🇷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

🧠
Neurológico
5 sintomas
😀
Face
4 sintomas
🧬
Pele e cabelo
4 sintomas
📏
Crescimento
2 sintomas
🦴
Ossos e articulações
2 sintomas
👂
Ouvidos
1 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

90%prev.
Atraso de crescimento
Muito frequente (99-80%)
90%prev.
Distância intermamilar ampla
Muito frequente (99-80%)
90%prev.
Orelhas com rotação posterior
Muito frequente (99-80%)
90%prev.
Dorso nasal proeminente
Muito frequente (99-80%)
90%prev.
Micrognatia
Muito frequente (99-80%)
90%prev.
Hipoplasia do pênis
Muito frequente (99-80%)
36sintomas
Muito frequente (22)
Frequente (9)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 características clínicas mais associadas, ordenadas por frequência.

Atraso de crescimentoGrowth delay
Muito frequente (99-80%)90%
Distância intermamilar amplaWide intermamillary distance
Muito frequente (99-80%)90%
Orelhas com rotação posteriorPosteriorly rotated ears
Muito frequente (99-80%)90%
Dorso nasal proeminenteProminent nasal bridge
Muito frequente (99-80%)90%
MicrognatiaMicrognathia
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
Pico2026182 papers
Linha do tempo
2026Hoje · 2026
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 glabela proeminente-microcefalia-hipogenitalismo

🗺️

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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.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics2026

Post-Streptococcal glomerulonephritis (PSGN) most commonly follows streptococcal infections and presents with classic features such as hematuria, proteinuria, hypertension, and transient renal dysfunction. While renal-limited disease is typical, extrarenal manifestations-particularly serosal involvement-are exceptionally rare in children. We report a rare case of an adolescent who presented with nephritic syndrome marked by hypertension, gross hematuria, proteinuria, and notably, concurrent pleural and pericardial effusions. Laboratory evaluation revealed low serum complement levels (C3 and C4), consistent with immune complex-mediated glomerulonephritis. Extensive infectious and autoimmune workups were unremarkable. The patient was managed conservatively with antihypertensives and diuretics, with complete resolution of symptoms and normalization of renal function and complement levels within four weeks. To our knowledge, serosal involvement (pleural and pericardial effusions) at initial presentation in pediatric PSGN remains extremely rare, with very few documented cases in the literature. This report contributes valuable clinical insight, emphasizing that PSGN can occasionally mimic systemic inflammatory or autoimmune conditions. Early identification and conservative management can prevent overtreatment and improve outcomes. This case underscores an unusual presentation of PSGN with serosal involvement-a manifestation reported only sporadically in literature. Recognition of such rare systemic features is crucial to avoid diagnostic delays or unnecessary immunosuppression. Supportive care alone led to favorable outcomes, reinforcing the self-limited nature of PSGN even in atypical presentations. It serves as a valuable reminder that atypical PSGN can present with multi-system inflammation, and a precise diagnostic approach integrating serology and clinical course is essential to avoid unnecessary intervention.

#2

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Clinical genetics2026 Mar 20

Biallelic loss-of-function variants in FBXO31 cause autosomal-recessive intellectual disability. A recurrent de novo variant, c.1000G>A(p.Asp334Asn), has been described in association with an autosomal-dominant phenotype. To refine this phenotype and its clinical implications, we re-evaluated three published cases and ascertained four additional probands via advocacy networks, GeneMatcher, and clinician referral. Phenotyping included neurologic, behavioral, and dysmorphology assessment. All seven individuals carried the recurrent de novo FBXO31 p.Asp334Asn variant. A core neurodevelopmental profile was observed and included cerebral palsy (mixed hypotonia, spasticity, and dystonia), global developmental delay/intellectual disability, and speech impairment. Neuropsychiatric features were sometimes prominent and included attention-deficit/hyperactivity disorder, anxiety, stereotypies, autistic features, and behavioral dysregulation. Neuroimaging often showed a hypoplastic corpus callosum and posterior-predominant white-matter changes. In one individual, gray matter heterotopias were also observed. A subtle but consistent facial gestalt was noted. Recurrent FBXO31 p.Asp334Asn variants lead to a recognizable neurodevelopmental syndrome. Based on our findings, we recommend including FBXO31 in diagnostic algorithms for cerebral palsy and neurodevelopmental disorders. We propose the descriptive term "autosomal dominant FBXO31-associated neurodevelopmental disorder," and-consistent with the validating laboratory and with support from the FBXO31 Foundation-propose the eponym "Kruer syndrome."

#3

Clinical profile and treatment outcomes of patients with chronic presentations of autoimmune encephalitis: expanding the spectrum.

BMJ neurology open2026

The spectrum of autoimmune encephalitis (AIE) is evolving due to heterogeneity of clinical syndromes associated with autoantibodies. While majority of patients present within 3 months, little is known about chronic presentations of AIE. This study aims to characterise the neurobehavioural profile and assess the long-term outcomes of patients with chronic presentations of AIE. Patients with serum or cerebrospinal fluid AIE antibody positivity were included in the study. We reviewed their clinical, cognitive, imaging and treatment characteristics as well as their long-term outcomes. Addenbrooke's Cognitive Examination-III and Clinical Dementia Rating score were used to evaluate global cognition and the severity of dementia, respectively. Of 306 patients diagnosed with dementia in a cognitive disorders' clinic, 28 had chronic presentations of AIE. The mean age of 28 patients was 55 years (range: 50-60), and mean duration of illness was 12 months (range: 3-84). Of the 28 patients, 9 (32%) were positive for leucine-rich glioma inactivated 1 antibody, 7 (25%) anti-thyroid peroxidase, 5 (18%) N-Methyl D-Aspartate receptor, 5 (18%) glutamic acid decarboxylase 65 and 2 (7%) had contactin-associated protein antibodies. Memory, language and behavioural disturbances with prominent neuropsychiatric symptoms were characteristic clinical manifestations. The course was chronic progressive, relapsing and rapidly progressive in 18 (64%), 8 (28%) and 2 (7%) patients, respectively. On immunomodulator therapy, the majority (21/28) improved, while 7/28 patients remained unchanged or experienced an exacerbation of symptoms. Chronic presentations of AIE are less known, and often misdiagnosed due to insidious progressive course and resemble degenerative dementias. A high index of suspicion in patients with chronic atypical cognitive syndromes and a low threshold for antibody testing will allow for prompt diagnosis, appropriate immunotherapy and improvement in clinical outcome.

#4

Pediatric-related post-COVID condition (long COVID) research and its foundational influences: a bibliometric analysis (2020-2025).

Frontiers in pediatrics2026

The COVID-19 pandemic significantly influenced healthcare systems worldwide. The long-term consequences of the infection in children, the phenomenon of post-COVID-19 syndrome, have been attracting increasing attention of the scientific community. The present study is a bibliometric analysis of publications addressing post-COVID (long COVID) complications in pediatric population over the period 2020-2025. The analysis covers 1,292 records retrieved from Scopus and Web of Science (search date: June 2025). Records were retrieved using post-COVID condition/long COVID terminology combined with pediatric-related keywords; therefore, the corpus includes pediatric-focused studies as well as influential general PCC publications indexed with pediatric terms and frequently cited in pediatric research. The search strategy combined post-COVID condition/long COVID terminology with pediatric terms (child/infant/adolescent), applying filters for English language, publication years 2020-2025, and document type (articles and reviews). Data were merged and analyzed in R using bibliometrix/Biblioshiny to describe productivity, collaboration, citations, and thematic structure. The retrieved corpus included 1,292 publications from 84 countries/regions. The United States led productivity with 270 publications (20.9%), followed by the United Kingdom (114; 8.8%) and China (90; 7.0%). The most frequent author keywords included "COVID-19" (n = 900) and "long COVID" (n = 818). Highly cited items predominantly consisted of general or mixed-age PCC frameworks, indicating that foundational long COVID literature substantially shapes citation patterns within pediatric-tagged publications. Thematic mapping showed symptom-focused clusters as dominant, while MIS-C and cognitive impairment were less prominent in author-keyword frequency and thematic clustering within the retrieved dataset. The findings describe the pediatric-term-indexed PCC research landscape and highlight substantial gaps in pediatric-specific evidence, definitions, and longitudinal data.

#5

Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.

Frontiers in cellular and infection microbiology2026

Psoriasis is a common immune-mediated skin disease influenced by environmental and dietary factors. In traditional Chinese medicine (TCM), endogenous dampness-heat syndrome, often induced by diets rich in stimulating foods, is considered a trigger that aggravates psoriasis. However, the underlying mechanisms remain unclear. This study investigated the gut microbiota and metabolic alterations associated with endogenous dampness-heat syndrome in psoriasis. BALB/c mice were fed a stimulating food diet to establish a model of endogenous dampness-heat syndrome, followed by the induction of psoriasis-like dermatitis by applying imiquimod. Mice on a standard diet served as disease controls and healthy controls. Characteristics of the gut microbiota were analyzed by 16S rDNA sequencing. UPLC-MS/MS was used to detect metabolic changes in the feces and serum of mice and to quantify multiple bile acids. Lipid accumulation and bile acid content in the liver were evaluated by Oil Red O staining and total bile acid assays. Endogenous dampness-heat modeling aggravated psoriasis-like symptoms in mice. This was accompanied by marked dysbiosis of the gut microbiota, characterized by reduced abundance of Lactobacillus and Bacteroides. Serum and fecal metabolomics revealed prominent alterations in bile acid metabolism, closely associated with the reduction in Lactobacillus. Targeted quantification confirmed elevated deoxycholic acid in serum, together with increased total bile acids and lipid deposition in the liver. The expression of FXR in bile acid pathway in the liver was decreased, while the expression of CYP7A1 was increased. The exacerbation of skin lesions and hepatic lipid deposition in endogenous dampness-heat pattern psoriasis may be associated with bile acid imbalance and reduced Lactobacillus levels.

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📚 EuropePMCmostrando 199

2026

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics
2026

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Spine
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Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

Clinical genetics
2026

Schwannosis with mature collagen in the spinal cord of a calf.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
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Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.

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2026

Clinical profile and treatment outcomes of patients with chronic presentations of autoimmune encephalitis: expanding the spectrum.

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Beyond the basics: exploring non-conventional treatment for fatigue in post-acute COVID-19 syndrome.

La Tunisie medicale
2026

Pediatric-related post-COVID condition (long COVID) research and its foundational influences: a bibliometric analysis (2020-2025).

Frontiers in pediatrics
2026

Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.

Frontiers in cellular and infection microbiology
2026

Somato-Psychic Pathway: a universal developmental trajectory linking somatic structural-functional integrity, autonomic regulation, and the emergence of mind.

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Network toxicology and single-cell analysis reveal key gene-mediated bisphenol a interference with granulosa cell function in polycystic ovary syndrome.

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Eosinophilic granulomatosis with polyangiitis coexisting with multiple myeloma: independent entities or coexistence? A case report.

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[The symptoms of burnout and possible interpretations among the healthcare workers of the Emergency Department in Szentes].

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Iron Deficiency Anemia Among Pediatric Celiac Disease Patients at the Armed Forces Hospital Southern Region: Prevalence, Predictors, and Outcomes.

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Hidden morphological clues in deceptive bone marrow pathologies.

Annales de biologie clinique
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Clenched fist syndrome: unveiling a motor manifestation of schizophrenia-a case report.

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A Systematic Review of Clinically Significant Drug-Drug Interactions With Phenobarbital and Primidone.

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Distinct cerebrospinal fluid profiles of astrocytic aquaporin-4 and GFAP in neuroinflammatory disorders.

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The e ffec t of the nose fo rm o n lin ear and a ngular lip po sitio n in C l as s II patients.

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Predictors of Concussion-Like Symptoms in Women Recruited from the Community with a History of Intimate Partner Violence.

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Insight Into the Multifactorial Nature of Platypnea-Orthodeoxia Syndrome: Not Just a Solo.

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Left Atrial Deformation Parameters After Myocardial Infarction With Low Triiodothyronine Syndrome and Their Prognostic Value.

Cardiology research
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Exploratory Characterization of Coronary Thrombi by Integrated Mass Spectrometry and Elemental Imaging in Acute Coronary Syndrome.

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Hyperlipidemia in membranous nephropathy.

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Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Journal of medical cases
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[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2026

Implications of the cystatin C/creatinine discordance.

Current opinion in nephrology and hypertension
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Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.

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A prospective multicenter register study exploring health-related quality of life in women with Sjögren's disease during pregnancy.

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Effects of Metabolic Syndrome on Cardiovascular Outcomes in Non-Obese Heart Failure Patients.

ESC heart failure
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Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

European journal of pediatrics
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Clear Cell Foci as Precursors of Hepatocyte Nuclear Factor 1-alpha-inactivated Hepatocellular Adenoma in a Metabolic Syndrome Mouse Model.

Acta histochemica et cytochemica
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Presentation and temporal nature of postacute sequelae of SARS-CoV-2 infection in a US national cohort.

Brain, behavior, &amp; immunity - health
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Pediatric tumor lysis syndrome: the nephrologist's role in prevention and management.

Pediatric nephrology (Berlin, Germany)
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Is GDF15 or PGC-1α involved in 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-induced wasting syndrome? Evidence from a TCDD-sensitive and a TCDD-resistant rat strain.

Toxicology mechanisms and methods
2026

No Evidence for Seasonal Variations in Fatigue, Sleepiness and Insomnia Symptoms: Spring Fatigue Is a Cultural Phenomenon Rather Than a Seasonal Syndrome.

Journal of sleep research
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Morvan Syndrome Masquerading as Anxiety Disorder: A Case Report Highlighting the Importance of Recognizing Organic Signs in Psychiatric Settings.

International medical case reports journal
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Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.

Frontiers in cell and developmental biology
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400 AU/mL IgG protective threshold against SARS-CoV-2 XBB reinfection in Chinese inactivated vaccine recipients: implications for booster vaccination.

Frontiers in immunology
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A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.

Clinical case reports
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Central amygdala HDAC6 contributes to visceral hypersensitivity and affective comorbidities in IBS-like rats.

International immunopharmacology
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OSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.

QJM : monthly journal of the Association of Physicians
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Morvan syndrome associated with prominent Tau pathology: A clinicopathological case report.

Journal of neuroimmunology
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Clinical predictors of pediatric obstructive sleep apnea: Demographic and physical factors.

International journal of pediatric otorhinolaryngology
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Data mining and analysis of adverse drug events of propofol in the general population and the elderly based on the US Food and Drug Administration Adverse Event Reporting System.

Medicine
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Changes in hypsarrhythmia in West syndrome following combined high-dose prednisolone and vigabatrin therapy: A standardized, low-resolution, brain electromagnetic tomography study.

Medicine
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Drug-Coated Balloons Beyond In-Stent Restenosis.

Reviews in cardiovascular medicine
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Clinical, immunological characterisation and treatment response of patients with syndrome of undifferentiated recurrent fever in Chinese children and adolescents: a single-centre cohort study.

Frontiers in immunology
2026

In Vitro Evaluation of Cadmium-Induced Phosphate Reabsorption Impairment.

Journal of applied toxicology : JAT
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Diagnostic Implications of the Endocrine Society and American Academy of Pediatrics Guidelines on blood pressure: associations with sex, blood pressure components, and metabolic syndrome in Korean Adolescents.

Annals of pediatric endocrinology &amp; metabolism
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Lipid Profile Alterations Across Coronary Heart Disease, Metabolic Syndrome, and Nephrotic Syndrome.

Journal of clinical laboratory analysis
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Antidepressant withdrawal-induced de novo restless legs syndrome: a case report.

Sleep medicine
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Gorham-Stout disease presenting as chest wall defect: A case report and review of literature.

Turk gogus kalp damar cerrahisi dergisi
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Epidemiologic transition of biliary tract cancers in an endemic region of Korea: insights from a regional cancer center cohort.

BMC gastroenterology
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Ventricular assist device unloading reverses microvascular senescence in single ventricle disease.

Nature cardiovascular research
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International journal of sports physical therapy
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Single-cell transcriptomics reveal heat shock protein dysregulation in severe SARS-CoV-2-associated pediatric encephalopathy.

Scientific reports
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Providers' Perspectives on the Social Determinants of Health and Burnout Among HIV Care Providers in the United States.

Cureus
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Glucocorticoid receptor blockade reverses heroin and alcohol withdrawal-induced hyperalgesia in rats.

Neuropharmacology
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Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals.

Genes
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An Artificial Intelligence-Driven Multimorbidity Framework Reveals a Shared Metabolic and Immune Core Across Alzheimer's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia.

Biomedicines
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Probiotic Potential of Weizmannia coagulans MA42, an Endospore-Forming Probiotic Bacterium Capable of Dietary Fiber Digestion.

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A Novel Mouse Model to Identify Antigen-Specific Immune Responses in Pancreatic Cancer Cachexia.

Cancers
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Visualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace.

Intractable &amp; rare diseases research
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The underrated value of non-motor symptoms of Parkinson's disease in making diagnostic and treatment decisions.

Neurologia i neurochirurgia polska
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Seronegative Autoimmune Encephalitis With Neuropsychiatric Presentation: A Case Report.

Cureus
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TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.

JMIR formative research
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When Stroke Is Not a Stroke: Wernicke's Encephalopathy in a Patient With Chronic Alcohol Misuse.

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Yellow nail syndrome: a syndrome with prominent manifest involvement of the respiratory system.

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Metformin Activates AMPK to Restrain Mitochondrial ROS-Driven Necroptosis in Cadmium Neurotoxicity.

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Age-Stratified Differences in Cardio-Reno-Metabolic Risk Profiles.

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International journal of emergency medicine
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The Journal of allergy and clinical immunology
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Brain fatigue in Graves' disease: symptoms and presentation of a possible mechanism at the cellular level.

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Serotonin syndrome presenting as severe reversible cerebral vasoconstriction syndrome.

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Cureus
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International journal of molecular sciences
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A Case Report of Milk-Alkali Syndrome Secondary to Excessive Antacid Use.

Clinical practice and cases in emergency medicine
2026

Cognitive profiles in older adults with psychotic disorders: Results from routine clinical assessments.

Schizophrenia research. Cognition
2026

Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.

Frontiers in physiology
2026

Case Report: Neuroretinitis versus hypertensive retinopathy secondary to Alport syndrome.

Frontiers in neurology
2026

Construct validity of instrumented gait assessments in hospital and daily life mobility in patients with Parkinson's disease and atypical Parkinson's syndromes: an exploratory study.

Journal of neurology
2026

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.

Gene
2026

Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.

Clinics and research in hepatology and gastroenterology
2026

Cytokine storm divergence in viral infections of the upper respiratory tract.

Cytokine &amp; growth factor reviews
2026

HO-1/Nrf2 activation orchestrates protection in sepsis-induced lung injury by suppressing CCR2hi monocyte recruitment and MAPK-driven inflammation.

Free radical biology &amp; medicine
2026

Global research trends and clinical trial progress in varicose vein treatment: A decade of advancements (2014-2024).

Medicine
2026

Approach to the Patient: Therapeutic Mitigation of Lacrimal Manifestations in Thyroid Eye Disease.

The Journal of clinical endocrinology and metabolism
2025

Serum uric acid levels in patients with different phenotypes of polycystic ovary syndrome.

The Indian journal of medical research
2026

Physician-dominated yet suboptimal: Evaluating the quality of Meniere's disease information on TikTok in China.

Digital health
2026

CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge.

Frontiers in human neuroscience
2026

A Joint Survival Modeling and Therapy Knowledge Graph Framework to Characterize Opioid Use Disorder Trajectories.

ArXiv
2026

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

Cureus
2026

The dangerous liaisons between central venous stents and catheters: a case report.

The journal of vascular access
2026

Spatiotemporal aggregation and population distribution characteristics of HIV/AIDS in Nanchang city: A monitoring analysis from 2012-2021.

PloS one
2026

Aggregate learning ratio from the Neuropsychological Assessment Battery distinguishes between amnestic and non-amnestic mild cognitive impairment in a real-world clinical sample.

Applied neuropsychology. Adult
2026

Behavioral trait (co)variances and plasticity in response to turbidity in wild zebrafish (Danio rerio).

Biology open
2026

Renoportal anastomosis in pediatric living donor liver transplantation: a case report.

Clinical transplantation and research
2026

Largely Distinct Post-Translational Modifications Differentiate Skeletal Muscle Wasting Caused by Cancer, Dexamethasone and Aging.

Journal of cachexia, sarcopenia and muscle
2026

Beneath the tip of the iceberg: treatment of neuropsychiatric comorbidities in tic disorders.

Handbook of clinical neurology
2026

Identifying chemicals associated with irritable bowel syndrome by integrating a transcriptome-wide association study with chemical-gene-interaction analysis.

PloS one
2026

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Neurology. Genetics
2026

Newly Diagnosed Crohn's Disease After SARS-CoV-2 Infection.

Case reports in gastrointestinal medicine
2026

Chinese Herb-Induced Type II Crescentic Glomerulonephritis: A Case Report of Four Patients.

Kidney medicine
2026

Sleep disturbances in children and adolescents with epilepsy: Clinical, polysomnographic and management aspects.

Sleep medicine
2026

Osteoarthritic knee: Advances in Epidemiology, Emerging Etiopathologies and Adipose-Derived Stem Cells-based Therapies.

Aging and disease
2026

Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.

BMC pediatrics
2026

Post-marketing safety concerns with trofinetide: a disproportionality analysis of the first therapeutic agent for Rett syndrome based on the FDA adverse event reporting system (FAERS).

Frontiers in pharmacology
2025

Autonomic small fiber involvement in painful long COVID: a histological and clinical study.

Frontiers in human neuroscience
2026

Takotsubo Syndrome Triggered by Immune Checkpoint Inhibitor-Induced Pneumonitis: A Multidisciplinary Diagnostic and Therapeutic Challenge.

The American journal of case reports
2026

Post-marketing safety surveillance of tarlatamab: a real-world pharmacovigilance study based on the FAERS database.

Naunyn-Schmiedeberg's archives of pharmacology
2026

Compensatory hallucinogenesis across three neuropsychiatric disorders: a Bayesian account.

Brain communications
2025

Atypical Presentation of a Preeclamptic Patient With Severe Features and Auditory Hallucinations.

Cureus
2026

Postoperative Corneal Dellen Following PreserFlo MicroShunt: A Case Report.

The American journal of case reports
2026

T-Cell Signaling Pathways, Including Exhaustion, Predominate in Unhealthy Visceral and Subcutaneous Adipose Tissues.

Obesity (Silver Spring, Md.)
2026

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

Kratom use in adolescents and college students: a systematic review of prevalence, patterns, and risk factors across community and rehabilitation settings.

The American journal of drug and alcohol abuse
2026

Frailty in Hepatocellular Carcinoma: An Unsettled Clinical Challenge.

Current oncology (Toronto, Ont.)
2025

Viral glycoprotein-mediated entry and antibody-mediated immunity in HIV-1 and SARS-CoV-2 infection.

Frontiers in immunology
2026

Voice Outcomes after Expansion Sphincter Pharyngoplasty in Patients with Obstructive Sleep Apnea Syndrome.

Journal of voice : official journal of the Voice Foundation
2025

Does Cognitive Disengagement Syndrome Affect the Cognitive Flexibility of Children with Attention Deficit Hyperactivity Disorder?

The Eurasian journal of medicine
2026

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

American journal of medical genetics. Part A
2026

BMI1 represses G-quadruplex DNA formation to maintain genomic stability during replication.

The Journal of biological chemistry
2026

Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study.

Seizure
2026

Screening of kinase-related genes as diagnostic biomarkers and immune infiltration analysis in sepsis.

Immunobiology
2026

Dipyridamole-associated pulmonary edema: discovery of a new potential adverse reaction signal based on the FAERS database.

Expert opinion on drug safety
2026

Core symptoms and potential pathways of multidimensional frailty: a nationwide population-based study integrating network analysis and directed acyclic graphs.

Journal of affective disorders
2026

Beyond the Follicle: A Narrative Review on How Systemic Diseases and Drugs Affect Alopecia.

Pharmaceutical medicine
2025

Mechanisms of Podocyte Injury Due to Loss of the Nucleoporin NUP93.

Journal of the American Society of Nephrology : JASN
2026

Localized Iron Deposition and Shape Changes of Cerebellar Dentate in Progressive Supranuclear Palsy Clinical Variants.

Movement disorders : official journal of the Movement Disorder Society
2026

Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report.

American journal of ophthalmology case reports
2026

Neurological Complications Associated With COVID-19 Compared to Other Viral Infections: A Systematic Review of Current Evidence.

Cureus
2025

Pharmacovigilance study on neurological adverse reactions of proteasome inhibitors in the FDA adverse event reporting system.

Frontiers in pharmacology
2026

Overexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.

Acta neuropathologica communications
2026

Decoding miRNA-Mediated Immunoregulation in SARS-CoV-2, HBV, HIV, and HSV Infections.

Genes and immunity
2026

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated with SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-month-old Girl: A Case Report.

Neuropediatrics
2026

Evaluation of Left Ventricular, Left Atrial, and Right Ventricular Function in Patients With Behçet's Disease by Strain Echocardiography.

Echocardiography (Mount Kisco, N.Y.)
2025

Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation.

Frontiers in genetics
2026

Artificial intelligence for early diagnosis in emergency department.

Journal of anesthesia, analgesia and critical care
2026

Mechano-electrical feedback in transgenic rabbit models of long QT syndrome Type 2 and short QT syndrome Type 1.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
2025

Early capecitabine metronomic chemotherapy improves patient prognosis and safety in early-stage triple-negative breast cancer.

American journal of translational research
2026

Expanding the Diagnostic Lens: Mast Cell Activation Syndromes and the Hidden Spectrum of Angioedema Associated Mortality in COVID-19.

Academic forensic pathology
2025

Efficacy and safety of efgartigimod PH20 SC for Sjögren's disease-associated dryness: study protocol for an investigator-initiated, multicenter, phase 2, randomized, double-blind, placebo-controlled trial (OASIS study).

Frontiers in medicine
2026

Takotsubo syndrome presenting as ventricular fibrillation cardiopulmonary arrest coupled with complete heart block.

Journal of cardiology cases
2026

Differential alpha-gal expression during Amblyomma hebraeum and Rhipicephalus evertsi tick feeding and development: A driver for the development of alpha-gal syndrome in South Africa.

The journal of allergy and clinical immunology. Global
2026

Central nervous symptoms as the prominent manifestation of Sjögren's disease (SjD): a case report.

BMC neurology
2026

Alleviation of depression rather than pain predicts disease improvement in fibromyalgia patients with prominent psychological symptoms-a prospective observational study.

Seminars in arthritis and rheumatism
2025

Robotic segment III liver resection for hepatocellular carcinoma in the setting of Cruveilhier-Baumgarten syndrome: A case report.

International journal of surgery case reports
2026

Increased triacylglyceride and ceramide levels are key for MERS-CoV replication.

mSphere
2026

The role of Rho GTPases in facial morphogenesis.

Developmental dynamics : an official publication of the American Association of Anatomists
2026

Peak strain dispersion as a nonlinear mediator in HFpEF: Unraveling subtype-specific pathways via SHAP-augmented ensemble modeling.

PLoS computational biology
2025

Baclofen Potentiates Neurological Impairment in Dialysis Disequilibrium Syndrome.

Cureus
2026

A relationship study of factors associated with emotional eating in women in Türkiye: body mass index, premenstrual syndrome, eating behavior, and quality of life.

BMC women's health
2025

The Beneficial Effects of Glucagon-Like Peptide-1 Agonists on Blood Pressure: A Comprehensive Review.

Reviews in cardiovascular medicine
2026

A One-Dimensional (1D) Computational Fluid Dynamics Study of Fontan-Associated Liver Disease (FALD).

International journal for numerical methods in biomedical engineering
2025

Fatal West Nile Encephalomyelitis in a Young Woman with Hypoparathyroidism and Sjögren's Syndrome. Molecular Insights into Viral Neuro-Invasivity.

International journal of molecular sciences
2026

Transient receptor potential channels as emerging therapeutic targets: mechanisms and therapeutic insights in inflammatory bowel disease.

Biochemical pharmacology
2025

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging.

Cells
2026

Metabolic syndrome in Australia: nationwide survey results by remoteness and Indigenous status, 2012-2019.

International journal of obesity (2005)
2026

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

Genome medicine
2026

Development of a Novel Benzodiazepine to Delineate Peripheral GABA-A Signaling Mechanisms in Visceral Pain Syndromes.

Cellular and molecular gastroenterology and hepatology
2026

Hospice Clinicians' Approaches to Terminal Restlessness: A Qualitative Analysis.

Journal of pain and symptom management
2026

Multifaceted role of interleukin-32 in inflammatory diseases and cancer.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2026

Ophthalmic phenotype associated with a novel mutation in LAMB3 gene linked to uncommon Intermediate Junctional Epidermolysis Bullosa.

American journal of ophthalmology case reports
2026

EEG and clinical findings in pediatric epilepsy and control groups using video-based pattern stimulation.

Epileptic disorders : international epilepsy journal with videotape
2025

Higher Plasma Kynurenine to Tryptophan Correlates with an Increased Incidence of Mild Cognitive Impairment in Treated Metabolic Syndrome Patients.

ACS omega
2026

Comparative study on the neurotoxicity of five bisphenols using zebrafish embryos/larvae models.

Environmental toxicology and pharmacology

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
    Frontiers in pediatrics· 2026· PMID 41878457mais citado
  2. Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
    Clinical genetics· 2026· PMID 41858232mais citado
  3. Clinical profile and treatment outcomes of patients with chronic presentations of autoimmune encephalitis: expanding the spectrum.
    BMJ neurology open· 2026· PMID 41852587mais citado
  4. Pediatric-related post-COVID condition (long COVID) research and its foundational influences: a bibliometric analysis (2020-2025).
    Frontiers in pediatrics· 2026· PMID 41847505mais citado
  5. Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
    Frontiers in cellular and infection microbiology· 2026· PMID 41847438mais citado
  6. Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.
    Orphanet J Rare Dis· 2025· PMID 41126296recente
  7. Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia.
    Orphanet J Rare Dis· 2022· PMID 35189944recente
  8. Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report.
    Orphanet J Rare Dis· 2019· PMID 31842933recente
  9. Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?
    Orphanet J Rare Dis· 2018· PMID 29685165recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2083(Orphanet)
  2. OMIM OMIM:247990(OMIM)
  3. MONDO:0009543(MONDO)
  4. GARD:144(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55782055(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

Compêndio · Raras BR

Síndrome de glabela proeminente-microcefalia-hipogenitalismo

ORPHA:2083 · MONDO:0009543
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0796024
Wikidata
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