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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de catarata-freio oral aberrante-atraso de crescimento
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GenesCross-Cultural Differences and Clinical Presentations in Burning Mouth Syndrome: A Cross-Sectional Comparative Study of Italian and Romanian Outpatient Settings.
Journal of clinical medicineTreatment Strategies for Cutaneous and Oral Mucosal Side Effects of Oncological Treatment in Breast Cancer: A Comprehensive Review.
BiomedicinesOpening 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 cancerNSAID overuse leading to cardiac aneurysm: Unveiling a missed diagnosis of Behçet's disease: A case report.
MedicineParoxysmal Kinesigenic Dyskinesia With Infantile Convulsions in a Child With Inherited Co-deletion of 16p11.2 and 16p12.2: A Case Report and Literature Review.
CureusEvaluation of dental and skeletal age among unilateral cleft lip and palate patients in an eastern Indian population.
The Journal of forensic odonto-stomatologyA Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.
Reports (MDPI)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 : JDDGThe Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia.
Case reports in dentistryClinical 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 DentistrySubjective 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 PsychiatristsManagement of Congenital Palatal Fistula Associated With Wiskott-Aldrich Syndrome.
CureusCannabinoid Hyperemesis Syndrome Presenting as Postoperative Nausea and Vomiting in a Chronic Cannabis User: A Case Report.
CureusA Case of Carney Complex with Pontine Glioma.
Journal of clinical research in pediatric endocrinologyElectrophysiological consequences of acute mobocertinib exposure in isolated rat and guinea-pig hearts and transfected cell lines.
Biochemical and biophysical research communicationsUnexpected adverse event caused by avacopan: a case of drug-induced hypersensitivity syndrome in microscopic polyangiitis.
Modern rheumatology case reportsAstaxanthin reverses neurodevelopmental impairment by decreasing oxidative stress-induced disruption of Maf/Bcl2 signaling in prenatal alcohol exposure.
NeuroreportHaemophilus influenzae Acute Prosthetic Joint Infection: A Rare Case Report on Time-Critical, Pathogen-Specific Management.
Journal of orthopaedic case reportsPresymptomatic multiple sclerosis: Insights from the Radiologically Isolated Syndrome.
Revue neurologiqueOutcomes After Tonsillectomy in Children With Angelman Syndrome.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-facialeChromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.
Case reports in geneticsRapid 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 & clinical practiceNorwegian scabies hid in advanced AIDS-associated talaromycosis misdiagnosed as atopic dermatitis: a case report.
BMC infectious diseasesEfficacy 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 psychiatryAdult Food Protein-Induced Enterocolitis Syndrome: A Review of Emerging Evidence and Clinical Considerations.
Digestive diseases (Basel, Switzerland)Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years.
Clinical advances in periodonticsThe silent struggle of ageing with SMI: a narrative review of physical health disparities in older adults with serious mental illness.
Social psychiatry and psychiatric epidemiologyEarly 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 medicineDiagnosis and Management of Benign Liver Tumors.
The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi[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 surgeryDoes cannabidiol reduce the adverse effects of cannabis in schizophrenia? A randomised, double-blind, cross-over trial.
Neuropsychopharmacology : official publication of the American College of NeuropsychopharmacologyNon-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment.
EndocrineLinezolid in combination with pentazocine causes serotonin syndrome: A case report.
MedicineFAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.
Cell proliferationA mixed immediate and delayed allergy to oral vitamin D supplementation: a case report.
Journal of medical case reportsThe impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series.
BMC pediatricsThe Use of Direct Oral Anticoagulants (DOACs) in the Geriatric Population-How to Overcome the Challenges of Geriatric Syndromes.
Journal of clinical medicineCleft Lip Appearance Secondary to Ulcerating Hemangioma.
CureusCracked tooth syndrome: a diagnostic dilemma- a mini review.
Frontiers in oral healthCritical Care Dilemma: Complex Congenital Pulmonary Airway Malformation With Pulmonary Hypertension in a Neonate.
CureusSyndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.
BMC oral healthA Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.
Annals of plastic surgery[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 diseasesRegulation of cortical bone formation by SLIT and NTRK-like family member 1.
iScienceEffect of parental perinatal exposure to L-glutamate monosodium salt monohydrate on developmental neurotoxicity in rat offspring.
Toxicology and applied pharmacologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.
- CTNNB1-related disorders: clinical and radiological contributions from a French cohort.
- Atypical operative sequence in Barnard's syndrome: managing gallstone ileus after biliary reconstruction.
- Pediatric snakebite in Sub-Saharan Africa: Clinical predictors, outcomes, and gaps in care-A systematic review.
- The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.
- Standardizing oral food challenge protocols in food protein-induced enterocolitis syndrome (FPIES): A call for consensus.
- Adult Food Protein-Induced Enterocolitis Syndrome: A Review of Emerging Evidence and Clinical Considerations.
- The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series.
- Alpha-gal syndrome: potential for a hypersensitivity reaction after the use of dental products: Literature review and case report.
- Shared Decision-Making in Food Protein-Induced Enterocolitis Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1373(Orphanet)
- OMIM OMIM:115645(OMIM)
- MONDO:0007277(MONDO)
- GARD:5554(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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