Raras
Buscar doenças, sintomas, genes...
Síndrome de catarata-freio oral aberrante-atraso de crescimento
ORPHA:1373CID-10 · Q87.8OMIM 115645DOENÇA RARA

A síndrome de atraso no crescimento do frênulo oral aberrante por catarata é caracterizada por catarata e baixa estatura associada a anomalias variáveis, incluindo frênulo oral aberrante, aparência facial característica (orelhas anguladas posteriormente, fissuras palpebrais inclinadas, nariz pequeno, ptose e dobras epicânticas), hemangiomas cavernosos e hérnias. Foi descrito em uma mãe e seus dois filhos. É transmitido como um traço autossômico dominante.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de atraso no crescimento do frênulo oral aberrante por catarata é caracterizada por catarata e baixa estatura associada a anomalias variáveis, incluindo frênulo oral aberrante, aparência facial característica (orelhas anguladas posteriormente, fissuras palpebrais inclinadas, nariz pequeno, ptose e dobras epicânticas), hemangiomas cavernosos e hérnias. Foi descrito em uma mãe e seus dois filhos. É transmitido como um traço autossômico dominante.

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
3
pacientes catalogados
Início
Childhood
🏥
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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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

🫃
Digestivo
2 sintomas
👁️
Olhos
2 sintomas
🦴
Ossos e articulações
1 sintomas
👂
Ouvidos
1 sintomas
😀
Face
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

55%prev.
Baixa estatura
Frequente (79-30%)
55%prev.
Orelhas com rotação posterior
Frequente (79-30%)
55%prev.
Frênulo oral acessório
Frequente (79-30%)
55%prev.
Hemangioma cavernoso
Frequente (79-30%)
55%prev.
Hérnia umbilical
Frequente (79-30%)
55%prev.
Hérnia inguinal
Frequente (79-30%)
10sintomas
Frequente (10)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.

Baixa estaturaShort stature
Frequente (79-30%)55%
Orelhas com rotação posteriorPosteriorly rotated ears
Frequente (79-30%)55%
Frênulo oral acessórioAccessory oral frenulum
Frequente (79-30%)55%
Hemangioma cavernosoCavernous hemangioma
Frequente (79-30%)55%
Hérnia umbilicalUmbilical hernia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025130 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de catarata-freio oral aberrante-atraso de crescimento

🗺️

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

A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.

Case reports in neurology2026

PIGK-related glycosylphosphatidylinositol (GPI) biosynthesis disorder is an extremely rare neurodevelopmental condition, with only 12 cases described to date. It is caused by biallelic mutations in the PIGK gene, which encodes a catalytic subunit of the GPI transamidase complex. This enzyme facilitates the attachment of GPI anchors to proteins crucial for cellular signaling and development. Eight of the 12 described cases were reported to have seizures, but the electroclinical characteristics are not well defined. We report a 15-month-old female who presented with global developmental delay, hypotonia, oral dysphagia, nystagmus, and cerebellar atrophy on MRI. Abnormal movements occurred at 10 months of age with intermittent, brief right arm tremors initially presumed to be benign myoclonus of infancy. However, subsequent 24-h video EEG revealed classic 3-Hz generalized spike-and-wave discharges with clinical correlates of behavioral arrest previously unrecognized, confirming a diagnosis of absence seizures - a feature not previously reported in the literature for PIGK-related disorders. Whole exome sequencing confirmed biallelic PIGK pathogenic variants. To our knowledge, this is the first reported case of typical absence seizures with 3-Hz generalized spike-and-wave discharges in a very young patient with confirmed PIGK mutation. Our report expands the known electroclinical phenotype of GPI-anchor deficiencies, suggesting the need to screen for subtle generalized epilepsy syndromes like absence, among affected infants. This case highlights a novel EEG phenotype in PIGK-related GPI biosynthesis disorder underscoring the relevance of early EEG evaluation in infants with this extremely uncommon neurogenetic disorder.

#2

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Frontiers in neurology2026

CTNNB1 monoallelic pathogenic variants account for up to 4% of genetically determined cerebral palsy cases, yet their phenotypic spectrum remains poorly defined. We retrospectively analyzed 25 individuals with pathogenic CTNNB1 variants using medical records and a questionnaire. Data included genetic variants, perinatal history, developmental milestones, behavioral characteristics, head growth, feeding, sleep difficulties, neurological and ophthalmological assessments. Brain MRIs were reviewed by expert neuroradiologists. Twenty-two distinct heterozygous variants were identified. Microcephaly occurred in 16/22 patients. All exhibited global developmental delay, independent walking was achieved at a mean age of 2.1 years, with regression in 4/16 independent walkers. Behavioral disorders were frequent, as were oral sensorimotor disorders (21/25) and sleep disturbances (13/21). Lower limb hypertonia was present in 22/25 patients [spastic (8) and/or dystonic (11)]. Unstable gait were common among ambulatory patients. Exaggerated startle reactions, often since birth, were reported in 16/21. Exudative vitreoretinopathy was identified in 3/5 patients with retinal angiography. Brain MRI (19 patients) showed: thickening of anterior commissure (8), frontal lobe hypoplasia (9), widening of superior vermian sulci (10) and corpus callosum anomalies (7). This study broadens the spectrum of CTNNB1-related syndrome, reporting a complex motor phenotype combining (i) gait disturbances related to dystonic or non-dystonic hypertonia and unsteadiness, sometimes associated to dystonia in other body parts (ii) possible deterioration of motor achievements over the course of the disease (iii) an exaggerated startle reflex. New non-specific brain anomalies are precisely described. Our work underscores the need for registries and longitudinal studies to refine characterization and guide future therapies.

#3

Atypical operative sequence in Barnard's syndrome: managing gallstone ileus after biliary reconstruction.

BMJ case reports2026 Feb 27

Cholecystoenteric fistulas are uncommon complications of chronic gallstone disease and may present insidiously, leading to delayed diagnosis. We describe a male patient in his early 70s who developed biliary ileus secondary to a cholecystoduodenal fistula, initially manifesting as right upper quadrant pain, bilious vomiting and progressive oral intolerance. CT imaging demonstrated pneumobilia, a large ectopic gallstone and small-bowel obstruction consistent with Rigler's triad. At laparotomy, he underwent partial cholecystectomy, closure of the duodenal defect, pyloric exclusion and decompressive procedures; however, an enteric leak required reoperation with omental patch repair, gastrojejunostomy and enterolithotomy. His recovery was complicated by intra-abdominal sepsis and ventilator-associated pneumonia but improved with intensive care management.This case highlights the diagnostic challenge of gallstone ileus from cholecystoduodenal fistula and the need for prompt CT evaluation and flexible, staged surgical decision-making in patients with significant inflammation or postoperative complications.

#4

Pediatric snakebite in Sub-Saharan Africa: Clinical predictors, outcomes, and gaps in care-A systematic review.

PLoS neglected tropical diseases2026 Feb

Snakebite envenomation (SBE) remains a significant but neglected public health problem among children in sub-Saharan Africa (SSA), with clinical predictors of severity and regional disparities in outcomes still poorly characterized. We conducted a systematic review of peer-reviewed studies published from database inception to October 2024 on pediatric snakebite envenomation (SBE) in SSA, focusing on clinical and demographic predictors of severe outcomes. Data on study characteristics, SBE symptoms, risk factors, and outcomes were synthesized descriptively. Eighteen studies from six SSA countries were included (totaling 2,687 pediatric patients). Children affected were predominantly under 12 years, with a male predominance. Severe outcomes including death, amputation, and permanent disability were closely associated with delayed hospital presentation (> 6-12 hours), certain traditional first aid practices, young age (<10 years old), severe local swelling, upper limb bites, and laboratory. Most identified SBE syndromes were cytotoxic or haematotoxic; neurotoxic cases were rarely reported. Antivenom availability and type varied by country and facility; adverse reactions were common (≈20-70%, definition-dependent; anaphylaxis up to ~57%). Mortality ranged from <5% in South Africa and Kenya to 14% in Gambia and 36% in Cameroon, correlating with both antivenom and essential emergency care access. Research gaps included limited data from several high-burden regions, lack of standardized pediatric protocols, and few long-term outcomes. Pediatric SBE in SSA is characterized by substantial preventable morbidity and mortality, mainly due to delays in care and inconsistent access to essential emergency care and safe antivenom. Improved health system capacity, rapid referral, and standardized management are urgently needed.

#5

The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.

iScience2026 Feb 20

Leigh syndrome is a fatal pediatric neurodegenerative disease caused by mitochondrial dysfunction, which can be modeled in the Ndufs4 KO mouse with mitochondrial respiratory chain complex I (CI) deficiency. This study explores NV354, a prodrug of succinate with enhanced oral bioavailability and brain uptake, as a potential therapy to counteract this devastating condition. NV354 modulated whole-body respiration and metabolic flexibility, prevented late-stage motor dysfunction, delayed clinical ataxia scores, and improved body weight development, but had otherwise minimal effect on neurobehavior and lifespan of the animals. The succinate prodrug prevented development of the brain stem lesions pathognomonic for Leigh syndrome, attenuated neuronal loss in the brainstem, diminished activation of astrocytes, blocked hypertrophic microglial accumulation, and reduced reactive oxygen species (ROS) levels in the brain. NV354 also partially alleviated motor symptoms and metabolic decompensation in a rat model of Parkinson disease induced by the CI inhibitor rotenone. In conclusion, the succinate prodrug NV354 shows promise as a potential treatment of mitochondrial CI-related neurodegeneration.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Hypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.

Cureus
2026

Nursing interventions and multidomain physiological trajectories in ARDS: a retrospective cohort study.

Frontiers in medicine
2026

Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers.

Clinical pharmacology in drug development
2026

Secukinumab-Induced Delayed Behçet-Like Reaction in a Patient with Plaque Psoriasis: A Case Report.

Clinical, cosmetic and investigational dermatology
2026

First report of malignant hyperthermia syndrome in an American Guinea hog.

The Canadian veterinary journal = La revue veterinaire canadienne
2026

A Rare Cause of Neck Swelling: A Case Report and Review of Primary Pyomyositis of the Sternocleidomastoid.

Cureus
2026

A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.

Case reports in neurology
2026

A Diagnostic Pitfall: Carbamazepine-Induced Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Syndrome Masquerading As Angiotensin-Converting Enzyme Inhibitor Angioedema.

Cureus
2026

P-glycoprotein-mediated impairment of doxorubicin clearance in inflammatory bowel disorders: Mechanistic insights from rat studies and whole-body physiologically based pharmacokinetic modeling.

Drug metabolism and disposition: the biological fate of chemicals
2026

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Frontiers in neurology
2026

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

Frontiers in genetics
2026

Predictors of Survival and Length of Stay in Steven Johnson syndrome and toxic epidermal necrolysis: A single centre retrospective study of 111 patients.

Journal of burn care &amp; research : official publication of the American Burn Association
2026

Abdominal Cocoon Syndrome With Greater Omental Hypoplasia: A Rare Anatomical Insight and Diagnostic Challenge.

Clinical case reports
2026

Diagnostic value of repeat deep sampling and cytocentrifugation in disseminated nocardiosis due to Nocardia brasiliensis with intramuscular and prostatic abscesses in a patient with myelodysplastic syndrome.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2026

Atypical operative sequence in Barnard's syndrome: managing gallstone ileus after biliary reconstruction.

BMJ case reports
2026

Natural History and Clinical Characteristics of Fish-Induced FPIES in Greek Children.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2026

Case Report: Atypical neuroleptic malignant syndrome induced by paliperidone palmitate-diagnostic challenges and clinical considerations.

Frontiers in psychiatry
2026

Digital Health Solutions for Alpha-Gal Syndrome: A Scoping Review of Telemedicine Evidence and Applications.

Missouri medicine
2026

Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study.

Journal of clinical research in pediatric endocrinology
2026

Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.

RMD open
2026

Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.

Frontiers in immunology
2026

Pediatric snakebite in Sub-Saharan Africa: Clinical predictors, outcomes, and gaps in care-A systematic review.

PLoS neglected tropical diseases
2026

Adverse Drug Reaction to Paracetamol: Case Report of Oral Manifestation of Stevens-Johnson Syndrome in Children.

International medical case reports journal
2026

Kallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report.

Case reports in obstetrics and gynecology
2026

The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.

iScience
2026

A case of delayed-onset Stevens-Johnson syndrome following co-amoxiclav administration in a 98-year-old female.

The International journal of risk &amp; safety in medicine
2026

Revision alloplastic temporomandibular joint reconstruction for re-advancement in syndromic ankylosis: a case report involving simultaneous Klippel-Feil syndrome and Pierre Robin sequence.

Oral and maxillofacial surgery
2026

Successful treatment of gastrobronchial fistula following laparoscopic sleeve gastrectomy: A case report and review of literature.

World journal of gastrointestinal surgery
2026

Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation.

Cureus
2026

A Case of Human Immunodeficiency Virus (HIV) Infection Leading to Acquired Immunodeficiency Syndrome (AIDS)-Related Pneumocystis Pneumonia.

Cureus
2026

Structure-corona-function engineering of micelles enables rapid hepatic bioactivation of clopidogrel for emergency antiplatelet therapy.

Journal of controlled release : official journal of the Controlled Release Society
2026

Cutaneous Clues in Kawasaki Disease: Clinical Implications and Differential Diagnosis with Multisystem Inflammatory Syndrome in Children.

Journal of clinical medicine
2026

Neuromyelitis optica spectrum disorder in an 11-year-old: a case report in a pediatric patient from Nepal.

Annals of medicine and surgery (2012)
2026

Dental rehabilitation under general anesthesia in an outpatient setting for a child with a heterozygous BCL11B variant: a case report.

BMC oral health
2026

[Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Chronic Tonsillitis as a Focal Infection: A Decade-Long Case Involving Severe Systemic Symptoms.

Cureus
2025

Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report.

The Turkish journal of pediatrics
2026

Safety, Tolerability, and Pharmacokinetics of Subcutaneous Extended-Release Injectable Olanzapine in Patients with Schizophrenia and Schizoaffective Disorder.

Clinical drug investigation
2025

Fahr's Syndrome Secondary to Hypoparathyroidism Presenting With Neurological and Cardiac Manifestations.

Cureus
2025

Prolonged Multi-food Food Protein-Induced Enterocolitis Syndrome (FPIES) With Yolk Specificity and Reproducible Cytokine Responses During Serial Oral Food Challenges.

Cureus
2025

Unmasking Wiskott-Aldrich Syndrome in Adulthood in a Case of Long-Standing Bleeding, Infections, and Steroid-Induced Morbidity.

Cureus
2026

Delivery Strategies and Clinical Significance of Oral Colon-targeted Drug Delivery Systems.

AAPS PharmSciTech
2026

Juvenile Behçet's disease 2014-2024: multicenter study in Colombia.

Pediatric rheumatology online journal
2025

The importance of integrated care in the management of dysphagia among homebound older patients with heart failure: a narrative review.

Frontiers in oral health
2026

Metformin Beyond Glycemic Control: Cardiovascular Protection and Diabetes Prevention.

Journal of cardiovascular development and disease
2026

Development of Novel Small-Molecule Targeting SCN1A-Associated Severe Myoclonic Epilepsy of Infancy.

Journal of medicinal chemistry
2026

Adapting opioid therapy: real-world analysis of switching from methadone to slow-release morphine and back amid COVID-19 supply chain disruptions.

Addiction science &amp; clinical practice
2025

A Delayed Acute Vestibular Syndrome and Diplopia in Ramsay Hunt Syndrome With Absent Facial Nerve Paralysis After Partially Treated Varicella-Zoster Virus (VZV) Oticus.

Cureus
2025

Severe Short Stature, Pathological Fracture, and Avascular Necrosis Due to Prolonged Over-the-Counter Steroid Use in an Adolescent Patient.

Cureus
2026

mNGS facilitates the diagnosis of pediatric murine typhus: A case report.

Medicine
2026

Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.

Medicine
2025

Multidisciplinary Approach to Comprehensive Dental Care in Sturge-Weber Syndrome: A Case Report.

International journal of clinical pediatric dentistry
2026

Drug-Induced Fuchs Syndrome With Isolated Oral Involvement: A Rare Case Report.

Case reports in dermatological medicine
2026

Severe Necrotizing Community-Acquired Pneumonia and Bilateral Empyema in an Immunocompetent Patient due to Fusobacterium necrophorum.

Case reports in pulmonology
2025

Risperidone-Induced Paradoxical Agitation in a Child With Lamb-Shaffer Syndrome, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder: A Case Report.

Cureus
2026

Management of hypoparathyroidism during pregnancy following late maternal diagnosis of DiGeorge syndrome: a case report.

Journal of medical case reports
2026

Behçet-like intestinal disease in a patient with trisomy 8-associated myelodysplastic syndrome (TRIAD).

BMJ case reports
2025

Periodontal and endodontic perspectives of vertical root fracture: A case report.

Stomatologija
2026

Endoscopic Treatment of Boerhaave Syndrome Related Empyema.

Respirology case reports
2025

Clinical Insights Into Ramsay Hunt Syndrome: A Case Report Highlighting Diagnostic Challenges and Management Considerations.

International medical case reports journal
2026

Population Pharmacokinetic Model-Based Dose Selection of Extended-Release Injectable Olanzapine (TV-44749) for Subcutaneous Use in Phase 3 Clinical Trial in Adults with Schizophrenia.

Journal of clinical pharmacology
2025

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Frontiers in endocrinology
2025

[Special features of anticoagulant treatment in vascular liver diseases].

La Revue du praticien
2025

COVID-19-induced Brugada phenocopy pattern in a patient with previous myocardial infarction: A case report.

Medicine
2025

A case of secondary oxalate nephropathy with nephrotic syndrome.

Medicine
2026

Outcomes of cranial nerve disorders in pharyngo-laryngeal herpes zoster: A retrospective study of 34 cases at a single institution.

Auris, nasus, larynx
2025

Diabetes mellitus in SHORT syndrome managed with multi-agent oral therapies: a case report and literature review.

Therapeutic advances in endocrinology and metabolism
2025

Management of Severe Riga-Fede Disease in a Child With MIRAGE Syndrome.

Cureus
2026

A subcutaneous implant that releases islatravir provides long-lasting protection against vaginal SHIV infection in macaques.

Journal of controlled release : official journal of the Controlled Release Society
2026

WHIM syndrome: from mechanism to targeted therapy - advances shaping clinical care.

Current opinion in allergy and clinical immunology
2025

[Analysis of clinical and genetic characteristics in a patient with Beck-Fahrner syndrome due to a frameshift variant of TET3 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

[Complex clinical scenarios and treatment plans: current limitations, regional disparities in access, and reform proposals].

Giornale italiano di cardiologia (2006)
2025

Burning mouth syndrome: updates on pathogenesis and diagnostic algorithms.

Journal of oral &amp; facial pain and headache
2026

Ascher syndrome unmasked: a rare cause of acquired blepharochalasis in a young female.

Orbit (Amsterdam, Netherlands)
2025

A rare case of acute postoperative upper extremity deep vein thrombosis and pulmonary embolus after humeral shaft fixation: A case report and review of the literature.

Medicine
2025

The Role of the Autoimmune Regulator Gene in the Control of MHC II Antigen-Processing and Presentation by Medullary Thymic Epithelial Cells.

HLA
2025

Primary Sjögren's Syndrome Presenting in Adolescence: A Case Report.

Cureus
2025

A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl and review of literature.

Journal of medical case reports
2025

P10 Treatment-refractory psoriasiform dermatitis resulting from a rare genetic alteration in MSMO1 with marked improvement with combined cholesterol and statin use.

The British journal of dermatology
2025

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

Journal of developmental and behavioral pediatrics : JDBP
2026

Long-term efficacy and safety of paliperidone palmitate monthly injection and oral paliperidone extended-release tablets in schizophrenia, a randomized controlled trial.

Acta psychologica
2025

Tubulointerstitial nephritis and uveitis syndrome: an unexpected diagnosis.

BMJ case reports
2025

Childhood-onset alpha-gal syndrome in the central black sea region: real-world data on diagnostic delays, age-specific clinical patterns, environmental risk factors, and anaphylaxis predictors.

European journal of pediatrics
2026

Mucoadhesive bilayer nanomicelles-in-nanofibers nasal insert for sustained treatment of dry eye disease.

European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V
2025

Clinical considerations for the treatment of patients with familial chylomicronemia syndrome using a hepatic-targeted APOC3 antisense oligonucleotide.

American journal of preventive cardiology
2025

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

International journal of molecular sciences
2026

Role of intravenous P2Y12 inhibition in high-risk percutaneous coronary intervention.

Cardiovascular revascularization medicine : including molecular interventions
2026

Preclinical evaluation of long-acting cabotegravir and rilpivirine for HIV post-exposure prophylaxis in a macaque model.

EBioMedicine
2026

Redox imbalance and NLRP3 activation: H syndrome mistaken for CAPS-a case report.

Rheumatology (Oxford, England)
2025

Dental Management of a Child With Temtamy Syndrome: A Case Report.

Cureus
2025

Nothing fun about food protein-induced enterocolitis to fungi: A case report.

Journal of food allergy
2026

A Rare Presentation of Myxedema Coma Complicated by Acute Coronary Syndrome Successfully Managed With Oral Levothyroxine.

JCEM case reports
2025

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Case reports in dentistry
2026

Venetoclax/FluBu2 RIC transplant followed by all-oral venetoclax/decitabine maintenance for poor-risk MDS/AML.

Blood advances
2025

[Design and application of a device to prevent facial pressure injury in prone patients].

Zhonghua wei zhong bing ji jiu yi xue
2025

Echoes of Scleroderma: A Case Report Unmasking CREST (Calcinosis, Raynaud's Phenomenon, Oesophageal Dysmotility, Sclerodactyly, and Telangiectasia) Syndrome With Point-of-Care Ultrasound in Acute Medicine.

Cureus
2025

Pseudohypoparathyroidism Presenting With Recurrent Twitching: Challenges Making a Diagnosis in a Low-Resource Environment.

Case reports in endocrinology
2025

VEXAS syndrome with eosinophilia and pathologically mimicking histiocytosis: a case report.

Modern rheumatology case reports
2025

From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant.

Children (Basel, Switzerland)
2025

Hell's Itch: A Case Series of a Debilitating Post-Sunburn Pruritic Syndrome in a Healthy Young Adult.

Reports (MDPI)
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A Case Report of Longitudinal Extensive Transverse Myelitis: Ruling Out the Known Perpetrators.

Cureus
2026

Effects of Long-Term Treatment with TV-46000 on Symptom Improvement Over Time in Stabilized Patients with Schizophrenia.

CNS drugs
2025

Case report of rare right intraventricular thrombus: a diagnostic and anticoagulation management challenge.

European heart journal. Case reports
2025

Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report.

Case reports in dentistry
2025

[Delayed onset of diplopia and visual impairment after herpes zoster ophthalmicus].

Rinsho shinkeigaku = Clinical neurology
2025

Reversible cerebral vasoconstriction syndrome with delayed vasospasms and subdural hematoma after cardiac transplantation: a case report.

Frontiers in cardiovascular medicine
2025

Granisetron as a Novel Treatment for Acute Food Protein-induced Enterocolitis Syndrome.

JMA journal
2025

Eagle's syndrome with stylohyoid chain pseudoarthrosis and thyrohyoid ligament ossification: A case report and literature review.

Medicine
2025

Spinal Cord Infarction Presenting as Cauda Equina Syndrome With Concurrent Pulmonary Embolism: A Case Report.

Cureus
2025

Living with Eosinophilic Granulomatosis with Polyangiitis (EGPA): Podcast of a Patient-Physician Discussion.

Advances in therapy
2025

Belzutifan for patients with Von Hippel-Lindau (VHL) disease-associated heterogeneous tumors - a retrospective single center analysis.

BMC cancer
2025

Barriers to Surgical Care in Craniofacial Scleroderma (Parry-Romberg Syndrome).

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Evaluating the efficacy of a novel home-based oral food challenge protocol for pediatric food protein induced enterocolitis syndrome.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
2025

Pulmonary small lymphocytic lymphoma combined with paraneoplastic pemphigus and bronchiolitis obliterans: a case report.

BMC pulmonary medicine
2025

Optimizing PRRSV Detection: The Impact of Sample Processing and Testing Strategies on Tongue Tips.

Pathogens (Basel, Switzerland)
2025

Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications.

Cureus
2025

Mycoplasma pneumoniae-Associated Mucositis: A Diagnostic Dilemma.

Clinical case reports
2025

Atypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.

Reports (MDPI)
2025

Neglected severe rigid scoliosis with postoperative superior mesenteric artery syndrome: A case report.

Journal of clinical orthopaedics and trauma
2026

Optimizing Pediatric Sleep-Disordered Breathing Screening: Key Predictive Questions Identified From CHAT and PATS Databases.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2025

Delayed gastric conduit emptying after esophagectomy: attempt at a clinically relevant classification.

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus
2025

Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype.

Frontiers in immunology
2025

Bupi Yishen formula against chronic kidney injury via Akkermansia muciniphila mediated group 3 innate lymphoid cells activation to repair intestinal barrier funciton.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Multimodal therapeutic options for esophageal perforations-a single-center experience.

Frontiers in surgery
2026

The impact of the timing of PRRSV and swine enteric coronaviruses introduction on wean-to-market productivity.

Preventive veterinary medicine
2025

A case of paracentral acute middle maculopathy and retinal vein occlusion: idiopathic occlusive retinal vasculitis or incomplete Behçet's disease?

BMC ophthalmology
2025

Nutritional Needs and Growth Patterns in Patients With Robin Sequence Following Mandibular Distraction Osteogenesis.

Annals of plastic surgery
2026

Standardizing oral food challenge protocols in food protein-induced enterocolitis syndrome (FPIES): A call for consensus.

Annals of allergy, asthma &amp; immunology : official publication of the American College of Allergy, Asthma, &amp; Immunology
2025

Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease.

Case reports in nephrology and dialysis
2025

Delayed Therapeutic Response to Oral Corticosteroids and Rituximab Leading to Dialysis Independence in a Patient with Treatment-resistant C3 Glomerulonephritis.

Internal medicine (Tokyo, Japan)
2025

Predictors of relapse and disability in NMOSD, MOGAD, and double-seronegative demyelinating syndromes: an international multicenter retrospective cohort study.

Journal of neurology
2026

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study.

Community dentistry and oral epidemiology
2025

Childhood-onset primary Sjögren's Syndrome presenting as nephrotic syndrome: a case report and literature review.

BMC pediatrics
2025

Chronic granulomatous herpes simplex encephalitis in a child with digeorge syndrome- expanding the spectrum of herpes-associated neurological disease.

BMC infectious diseases
2025

Interventional Management of Acute Pancreatitis and Its Complications.

Journal of clinical medicine
2025

Phenotypic variability in cystinosis: Lessons from an atypical case.

Nefrologia
2025

Clinical and Oral Manifestations in a Patient with Lenz-Majewski Syndrome: A Rare Case Report.

BMC oral health
2025

Carvone derived cannabidiol enantiomers as novel anticonvulsants.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
2025

Pancreatic cancer-related diabetes and type 2 diabetes differ in multiple aspects of glucose homeostasis.

Diabetologia
2025

Comparative Evaluation of Z-Plasty and Linear Closure in Ankyloglossia Patients: A Randomized Study of Effects on Speech Articulation and Airway Volume.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2025

Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight.

Endocrinology, diabetes &amp; metabolism case reports
2025

Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.

Turkish archives of pediatrics
2025

Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency.

Brain : a journal of neurology
2025

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome.

Developmental dynamics : an official publication of the American Association of Anatomists
2025

Bacterial pneumonia co-infection in adult inpatients with coronavirus disease 2019 during the Omicron variants epidemic in Okinawa, Japan: risk factors and clinical outcomes.

Respiratory investigation
2025

Good syndrome presenting with multiple pulmonary infections: a case report involving metagenomic sequencing diagnosis.

Frontiers in medicine
2025

Fatigue, Polyuria, and Hidden Uveitis: A Case of Tubulointerstitial Nephritis and Uveitis Syndrome Diagnosed in Primary Care.

Cureus
2025

Hernia of the cauda equina nerve caused by occult cerebrospinal fluid leakage post lumbar spinal stenosis operation: A case report.

Medicine
2025

A patient with severe fever with thrombocytopenia syndrome complicated with intracranial and pulmonary aspergillosis.

IDCases
2025

Recent advances of epilepsy associated with neurofibromatosis type 1.

Frontiers in neurology
2025

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).

Proceedings of the National Academy of Sciences of the United States of America
2025

A Previously Unreported Bilateral Condylar Hyperplasia as a Manifestation of Luscan-Lumish Syndrome.

The Journal of craniofacial surgery
2026

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

American journal of medical genetics. Part A
2025

Comparative effectiveness of alternative initial doses of opioid agonist treatment for individuals with opioid use disorder: a protocol for a retrospective population-based study using target trial emulation in British Columbia, Canada.

BMJ open
2025

Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.

Genes
2025

Cross-Cultural Differences and Clinical Presentations in Burning Mouth Syndrome: A Cross-Sectional Comparative Study of Italian and Romanian Outpatient Settings.

Journal of clinical medicine
2025

Treatment Strategies for Cutaneous and Oral Mucosal Side Effects of Oncological Treatment in Breast Cancer: A Comprehensive Review.

Biomedicines
2025

Opening of a phase Ib/II study to investigate the safety and efficacy of Afatinib in patients with Fanconi anemia and unresectable locally advanced or metastatic head and neck squamous cell carcinoma.

BMC cancer
2025

NSAID overuse leading to cardiac aneurysm: Unveiling a missed diagnosis of Behçet's disease: A case report.

Medicine
2025

Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions in a Child With Inherited Co-deletion of 16p11.2 and 16p12.2: A Case Report and Literature Review.

Cureus
2025

Evaluation of dental and skeletal age among unilateral cleft lip and palate patients in an eastern Indian population.

The Journal of forensic odonto-stomatology
2025

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.

Reports (MDPI)
2025

Low-dose total skin electron beam therapy in erythrodermic mycosis fungoides and Sézary syndrome: Results From the Prospective S-MISR Study.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2025

The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia.

Case reports in dentistry
2026

Clinical insights into dental care for siblings with Jamuar syndrome: a rare genetic dual case report.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2025

Subjective well-being in early-phase schizophrenia patients using long-acting injectable versus oral antipsychotic drugs: Data from the European Long-acting Antipsychotics in Schizophrenia Trial (EULAST).

European psychiatry : the journal of the Association of European Psychiatrists
2025

Management of Congenital Palatal Fistula Associated With Wiskott-Aldrich Syndrome.

Cureus
2025

Cannabinoid Hyperemesis Syndrome Presenting as Postoperative Nausea and Vomiting in a Chronic Cannabis User: A Case Report.

Cureus
2025

A Case of Carney Complex with Pontine Glioma.

Journal of clinical research in pediatric endocrinology
2025

Electrophysiological consequences of acute mobocertinib exposure in isolated rat and guinea-pig hearts and transfected cell lines.

Biochemical and biophysical research communications
2025

Unexpected adverse event caused by avacopan: a case of drug-induced hypersensitivity syndrome in microscopic polyangiitis.

Modern rheumatology case reports
2025

Astaxanthin reverses neurodevelopmental impairment by decreasing oxidative stress-induced disruption of Maf/Bcl2 signaling in prenatal alcohol exposure.

Neuroreport
2025

Haemophilus influenzae Acute Prosthetic Joint Infection: A Rare Case Report on Time-Critical, Pathogen-Specific Management.

Journal of orthopaedic case reports
2025

Presymptomatic multiple sclerosis: Insights from the Radiologically Isolated Syndrome.

Revue neurologique
2025

Outcomes After Tonsillectomy in Children With Angelman Syndrome.

Journal of otolaryngology - head &amp; neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale
2025

Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.

Case reports in genetics
2025

Rapid intravenous symptom-inhibiting fentanyl induction (SIFI) to optimize rotation onto oral opioid agonist therapy among individuals who use unregulated fentanyl: protocol for an open-label, single arm clinical trial.

Addiction science &amp; clinical practice
2025

Norwegian scabies hid in advanced AIDS-associated talaromycosis misdiagnosed as atopic dermatitis: a case report.

BMC infectious diseases
2025

Efficacy of paliperidone palmitate once-monthly (PP1M) in improving social functioning and reducing caregiver burden in patients with schizophrenia: a six-month follow-up study.

BMC psychiatry
2025

Adult Food Protein-Induced Enterocolitis Syndrome: A Review of Emerging Evidence and Clinical Considerations.

Digestive diseases (Basel, Switzerland)
2025

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years.

Clinical advances in periodontics
2025

The silent struggle of ageing with SMI: a narrative review of physical health disparities in older adults with serious mental illness.

Social psychiatry and psychiatric epidemiology
2025

Early vs. Late Oral Feeding After Surgery for Patients with Esophageal Malignancy: A Systematic Review and Meta-Analysis of Postoperative Clinical Outcomes and Quality of Life.

Journal of personalized medicine
2025

Diagnosis and Management of Benign Liver Tumors.

The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi
2025

[Efficacy of vacuum sealing drainage in the management of full-thickness incision dehiscence wounds in the perineum after total pelvic exenteration].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2025

Does cannabidiol reduce the adverse effects of cannabis in schizophrenia? A randomised, double-blind, cross-over trial.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
2025

Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment.

Endocrine
2025

Linezolid in combination with pentazocine causes serotonin syndrome: A case report.

Medicine
2026

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.

Cell proliferation
2025

A mixed immediate and delayed allergy to oral vitamin D supplementation: a case report.

Journal of medical case reports
2025

The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series.

BMC pediatrics
2025

The Use of Direct Oral Anticoagulants (DOACs) in the Geriatric Population-How to Overcome the Challenges of Geriatric Syndromes.

Journal of clinical medicine
2025

Cleft Lip Appearance Secondary to Ulcerating Hemangioma.

Cureus
2025

Cracked tooth syndrome: a diagnostic dilemma- a mini review.

Frontiers in oral health
2025

Critical Care Dilemma: Complex Congenital Pulmonary Airway Malformation With Pulmonary Hypertension in a Neonate.

Cureus
2025

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

BMC oral health
2025

A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

Annals of plastic surgery
2025

[Successful rescue of a case of acute benzene poisoning with multiple organ dysfunction syndrome].

Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseases
2025

Regulation of cortical bone formation by SLIT and NTRK-like family member 1.

iScience
2025

Effect of parental perinatal exposure to L-glutamate monosodium salt monohydrate on developmental neurotoxicity in rat offspring.

Toxicology and applied pharmacology

Associações

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Comunidades

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.
    Case reports in neurology· 2026· PMID 41836309mais citado
  2. CTNNB1-related disorders: clinical and radiological contributions from a French cohort.
    Frontiers in neurology· 2026· PMID 41789168mais citado
  3. Atypical operative sequence in Barnard's syndrome: managing gallstone ileus after biliary reconstruction.
    BMJ case reports· 2026· PMID 41763672mais citado
  4. Pediatric snakebite in Sub-Saharan Africa: Clinical predictors, outcomes, and gaps in care-A systematic review.
    PLoS neglected tropical diseases· 2026· PMID 41712625mais citado
  5. The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.
    iScience· 2026· PMID 41704780mais citado
  6. Standardizing oral food challenge protocols in food protein-induced enterocolitis syndrome (FPIES): A call for consensus.
    Ann Allergy Asthma Immunol· 2026· PMID 41076074recente
  7. Adult Food Protein-Induced Enterocolitis Syndrome: A Review of Emerging Evidence and Clinical Considerations.
    Dig Dis· 2025· PMID 40716421recente
  8. The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series.
    BMC Pediatr· 2025· PMID 40665224recente
  9. Alpha-gal syndrome: potential for a hypersensitivity reaction after the use of dental products: Literature review and case report.
    J Am Dent Assoc· 2025· PMID 40372324recente
  10. Shared Decision-Making in Food Protein-Induced Enterocolitis Syndrome.
    J Allergy Clin Immunol Pract· 2025· PMID 40090482recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1373(Orphanet)
  2. OMIM OMIM:115645(OMIM)
  3. MONDO:0007277(MONDO)
  4. GARD:5554(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55780409(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 catarata-freio oral aberrante-atraso de crescimento

ORPHA:1373 · MONDO:0007277
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1861835
Wikidata
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