Raras
Buscar doenças, sintomas, genes...
Síndrome de ictiose-anomalias orais e digitais
ORPHA:2272CID-10 · Q87.8CID-11 · LD27.2OMIM 258840PCDT · SUSDOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Ictiose é uma família de doenças genéticas de pele caracterizadas por pele seca, espessada e escamosa. Os mais de 20 tipos de ictiose variam na gravidade dos sintomas, aparência externa, causa genética subjacente e modo de herança. Ictiose vem do grego ἰχθύς (ichthys) 'peixe', uma vez que a pele seca e escamosa é a característica definidora de todas as formas de ictiose.

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
Infancy
+ neonatal
🏥
SUS: Cobertura parcialScore: 65%
PCDT disponívelCentros em: PA, PE, BA, CE, PB +10CID-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

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Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025149 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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 ictiose-anomalias orais e digitais

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de ictiose-anomalias orais e digitais

Centros para Síndrome de ictiose-anomalias orais e digitais

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

BMJ case reports2026 Feb 25

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the plant homeodomain finger protein 6 (PHF6) gene. Core features include developmental delay, intellectual disability, dysmorphic craniofacial characteristics, obesity, hypogonadism and digital anomalies. Orofacial clefting has not been recognised as part of the canonical phenotype and is rarely reported in association with BFLS. One cohort study listed cleft lip and/or palate as an uncommon feature without individual case details, and a separate report described a female with a nonsense PHF6 variant and clefting of the hard and soft palate. Here, we describe a BFLS female with a de novo missense PHF6 variant who presented with cleft palate. This case adds to the emerging evidence that clefting, though uncommon, may be a recurrent manifestation. It supports the inclusion of PHF6 in the genetic testing of patients presenting with syndromic orofacial clefting when accompanied by neurodevelopmental delay or dysmorphism.

#2

Postpartum reversible cerebral vasoconstriction syndrome: a rare but severe cause of postpartum headache.

BMJ case reports2026 Feb 05

Postpartum reversible cerebral vasoconstriction syndrome (RCVS), also known as postpartum cerebral angiopathy, is an uncommon but potentially serious cause of thunderclap headache. Early diagnosis is challenging, and there may be a misdiagnosis due to non-specific clinical presentation and frequently normal initial imaging studies.We report a case of a primigravid woman in her early 30s who developed a sudden, severe holocranial headache on the fourth postpartum day, with no associated neurological findings. Initial head CT, CT angiography, cerebral CT venography and MRI showed no abnormalities. However, digital subtraction angiography (DSA), revealed multifocal segmental narrowing of intracranial arteries, with complete reversibility after 3 months, consistent with RCVS.The patient was treated with oral nimodipine and experienced gradual symptom resolution. There was no complication associated, with no recurrence so far.

#3

[Research progress in diagnosis and treatment of non-tumorous salivary gland diseases].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences2026 Feb 18

Salivary gland diseases are common disorders in the oral and maxillofacial region, mainly classified into two categories: Tumorous and non-tumorous. Non-tumorous salivary gland diseases include various types such as salivary gland inflammation, Sjögren syndrome, granulomatous diseases, and developmental abnormalities. Some of these diseases are local lesions, while others are closely associated with systemic diseases, often accompanied by impaired salivary secretion function, leading to xerostomia and secondary lesions. Over the past more than 20 years, the Salivary Gland Disease Research Center of Peking University School and Hospital of Stomatology has conducted systematic and in-depth studies focusing on the regulation of salivary secretion function by tight junction proteins, the clinicopathological characteristics, prevention and treatment of novel chronic sialadenitis [including immunoglobulin (Ig) G4-related sialadenitis, 131I-induced sialadenitis, and eosinophilic sialodochitis], stem cells from human exfoliated deciduous teeth-based therapy for Sjögren syndrome, and salivary gland developmental abnormalities. These studies provide important references for the basic research, clinical diagnosis and treatment of related diseases. 唾液腺疾病是口腔颌面部常见疾病, 主要分为肿瘤性与非肿瘤性两大类。唾液腺非肿瘤性疾病主要包括唾液腺炎症、干燥综合征、肉芽肿性疾病及发育异常等多种类型。此类疾病部分为局部病变, 部分与系统性疾病相关, 常伴随唾液分泌功能受损, 引发口干及继发性病变。北京大学口腔医学院唾液腺疾病研究中心近二十余年来围绕着紧密连接蛋白对唾液腺分泌功能的调控、新型慢性唾液腺炎[免疫球蛋白(immunoglobulin, Ig)G4相关唾液腺炎、131I相关唾液腺炎和嗜酸性唾液腺导管炎]的临床病理特征与防治、牙髓干细胞治疗干燥综合征及唾液腺发育异常等领域开展了系统性深入研究, 为相关疾病的基础研究与临床诊治提供了重要参考。

#4

Central hypoventilation and choking episodes revealing Chiari malformation type I.

BMJ case reports2026 Jan 09

A woman in her early 40s presented with a 7-year history of recurrent choking episodes affecting solids and liquids, nocturnal choking episodes occurring 3-4 times weekly, and chronic occipital headaches spanning 14 years. Home monitoring during the COVID-19 pandemic incidentally revealed episodes of severe oxygen desaturation (70%-80%) without respiratory distress. Multiple laryngoscopies and endoscopies performed to investigate the choking episodes were normal. Review of a 14-year-old CT scan of the head performed for unrelated trauma revealed a previously overlooked crowded foramen magnum. MRI of the head and neck confirmed Chiari malformation type I (CMI) with 11 mm cerebellar tonsillar descent. Sleep study demonstrated mild sleep apnoea (apnoea-hypopnoea index 6.0) with predominantly central events (72%). This case illustrates that CMI can present with respiratory symptoms that closely mimic acquired central hypoventilation syndrome (Ondine's curse), emphasising the importance of considering structural brain abnormalities in patients with unexplained respiratory dysfunction.

#5

An Evidence-Based Practical Review on Common Benign Anorectal Disorders: Hemorrhoids, Anal Fissure, Dyssynergic Defecation, and Fecal Incontinence.

Gastroenterology2026 Jan

This evidence-based practical review is focused on the clinical features, investigations, and treatment of hemorrhoids, chronic anal fissures, dyssynergic defecation (DD), and fecal incontinence (FI), which are arguably the most common benign anorectal diseases encountered by gastroenterologists. These diseases are associated with bowel disturbances, which should be evaluated preferably with questionnaires, and with anal weakness and/or DD, often evident on a thorough digital rectal examination. Fissures and DD are closely linked to constipation, whereas FI is typically associated with diarrhea. For most patients with mild symptoms, lifestyle changes, dietary adjustments, and/or pharmacotherapy suffice. Some patients require tests to rule out serious diseases; assess anorectal functions, which are discussed in detail; and to identify structural abnormalities, such as rectoceles, which are occasionally clinically significant. Treatments are applied stepwise, starting with conservative therapy with simpler treatments when feasible (eg, rubber band ligation for grade I-II hemorrhoids), with surgery, usually excisional hemorrhoidectomy, being reserved for more severe disease; for anal fissures, topical therapy using a calcium channel antagonist or nitroglycerine, followed by botulinum toxin and, less frequently, lateral internal sphincterotomy for chronic fissures. Anorectal biofeedback therapy is effective for managing DD and, together with bowel modifiers tailored to the specific symptoms (ie, constipation and/or diarrhea), is also used for FI. Biofeedback therapy is not widely accessible, and many patients are treated by pelvic floor physical therapists. For FI, minimally invasive options include sacral neuromodulation and anal dextranomer injection, with colostomy or anal sphincteroplasty now rarely required. Surgical interventions must balance long-term effectiveness with potential risks. Key topics for future research are proposed.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Partial Anomalous Pulmonary Venous Return in Lung Cancer Surgery: Diagnostic Challenges and Surgical Considerations in Two Cases.

The Tokai journal of experimental and clinical medicine
2026

Nonatherosclerotic Subclavian Steal Syndrome Due to Brachiocephalic Trunk Kinking in an Elderly Woman: A Case Report.

The American journal of case reports
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Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.

Journal of the peripheral nervous system : JPNS
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[Accessory cervical rib as a cause of arterial thoracic outlet syndrome (clinical case)].

Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery
2026

Tibetan medicine Bawei Chenxiang Wan attenuates chronic mountain sickness by targeting the AKT/FOXO3a/CAT axis to inhibit oxidative stress.

Journal of ethnopharmacology
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Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Journal of cardiothoracic surgery
2026

Beyond Blood Pressure: Salt Sensitivity as a Cardiorenal Phenotype-A Narrative Review.

Life (Basel, Switzerland)
2026

Laparoscopic Approach to Median Arcuate Ligament Syndrome: A Single-Center Experience.

Medicina (Kaunas, Lithuania)
2026

How Emerging Digital Health Technologies Based on Dietary and Physical Activity Regulation Improve Metabolic Syndrome-Related Outcomes in Adolescents: A Systematic Review.

Metabolites
2026

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

BMJ case reports
2026

The value of 18F-fluorodeoxyglucose positron emission tomography/computed tomography in the diagnosis and evaluation of TAFRO syndrome: a review of cases and literature.

Clinical radiology
2026

Comparison of individuals with radiologically isolated syndrome, early multiple sclerosis patients, and healthy controls using a digital neurological examination.

Multiple sclerosis (Houndmills, Basingstoke, England)
2026

Stereophotogrammetry as a Precise and Accurate Method for Facial Analysis in Patients With Cleft Lip and Palate Undergoing Orthognathic Surgery.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2026

Unmasking an Anomalous Vein: Surgical Repair of Left Upper Pulmonary Vein Drainage into the Innominate Vein.

Portuguese journal of cardiac thoracic and vascular surgery
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

[68Ga]Ga-DOTATATE PET/CT and PET/MR enhances the detection of pituitary ACTH-secreting adenomas in cushing's disease.

Frontiers in endocrinology
2025

ONYCHODYSTROPHIES IN PEDIATRIC DERMATOLOGY.

Georgian medical news
2026

Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.

Congenital anomalies
2026

Postpartum reversible cerebral vasoconstriction syndrome: a rare but severe cause of postpartum headache.

BMJ case reports
2026

[Research progress in diagnosis and treatment of non-tumorous salivary gland diseases].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2025

Mechanisms and Clinical Implications of the Post-traumatic Stress Disorder (PTSD)-Cardiovascular Disease Link.

Cureus
2025

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.

Children (Basel, Switzerland)
2025

Feasibility of Smartphone-Based Markerless Motion Capture for Quantitative Gait Assessment in Pediatric Guillain-Barré Syndrome: A Two-Case Proof-of-Concept Study.

Bioengineering (Basel, Switzerland)
2026

Long-Term Pulmonary Function and Radiologic Abnormalities Up to 3 Years After COVID-19: A Systematic Review and Meta-Analysis.

Korean journal of radiology
2026

Paediatric caecal volvulus, a rare presentation of african degenerative leiomyopathy - a case report.

International journal of colorectal disease
2026

Large-Scale Psychometric Assessment and Validation of the Modified COVID-19 Yorkshire Rehabilitation Scale Patient-Reported Outcome Measure for Long COVID or Post-COVID Syndrome.

Journal of medical virology
2025

Beyond Snoring: Unexpected Presentation of Obstructive Sleep Apnea.

Cureus
2026

AI-Based CT Image Recognition With Med-Gemini-3D in the Diagnosis of a Rare Craniofacial Condition: A Catlin Mark Skull.

The Journal of craniofacial surgery
2026

[Application and research progress of mandibular distraction osteogenesis in craniofacial microsomia].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2025

FGF10/IGSF3 Variants in Bony Congenital Nasolacrimal Duct Obstruction: A Genotype-Phenotype Study of Syndromic Versus Isolated Disease.

Investigative ophthalmology &amp; visual science
2026

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.

Molecular genetics &amp; genomic medicine
2026

Longitudinal analysis in Mecp2-het female mice reveals atypical nociceptive behaviours.

Journal of molecular medicine (Berlin, Germany)
2026

Radiologic Approach to Cystic Lung Diseases: From Cyst Definition to Diagnosis.

Seminars in roentgenology
2026

Central hypoventilation and choking episodes revealing Chiari malformation type I.

BMJ case reports
2025

Acute Exacerbation of Interstitial Lung Disease: Early Diagnosis and Treatment.

Medicina (Kaunas, Lithuania)
2025

Aberrant origins of the subclavian artery from pulmonary arteries: a case series and literature review.

Cardiology in the young
2026

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

Journal francais d'ophtalmologie
2026

Single-arm longitudinal study to assess changes in insula functional connectivity following a mobile-based lifestyle intervention in adults with metabolic abnormalities.

Journal of psychosomatic research
2026

An Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.

Journal of cosmetic dermatology
2025

Significant improvement of neurological and radiological findings caused by multiple lateral meningocele by cyst-subarachnoid shunt in a 6-year-old boy: case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Anatomical patterns and collateral pathways in congenital aplasia, atresia, and hypoplasia of iliac and lower extremity veins: a retrospective cohort study.

Surgical and radiologic anatomy : SRA
2025

Prevalence of Asymptomatic Superior Semicircular Canal Dehiscence on High Resolution CT scan in Omani Population.

Sultan Qaboos University medical journal
2025

Anorectal Pathophysiology in Solitary Rectal Ulcer Syndrome: Insights From a Cross-Sectional Study.

Cureus
2025

Esophageal Atresia, an Anomaly of VACTERL Association or Novel Feature of the FGF10 Gene: A Case Report.

Molecular syndromology
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Peribronchial Arteriovenous Malformation with Cowden Syndrome: A Rare Case Report.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
2025

Clinical Reliability and Diagnostic Value of Digital Rectal Examination in the Detection of Prostate Cancer and Broader Clinical Practice: A Narrative Review.

Cureus
2025

[Hidden paths: rare etiology of renal pelvicalyceal dilatation].

Praxis
2025

Diagnosing Dysphagia in Forestier Syndrome: A Dynamic Digital Radiology Application.

Diagnostics (Basel, Switzerland)
2025

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

Case reports in dentistry
2025

Clinical impact of multimodal cardiac imaging in Kawasaki disease: a prospective Kawasaki disease cardiac imaging (KDCI) cohort study with follow-up data in a Chinese population.

BMJ open
2025

Antiphospholipid antibodies and subclinical interstitial lung disease in the MESA cohort.

Respiratory research
2025

Prognostic value of pulmonary vessel-related structures in rapid progression of idiopathic inflammatory myopathy-associated interstitial lung disease: a retrospective study from two centres.

BMJ open respiratory research
2025

Multimodality Non-Invasive Imaging Approach in Acute Coronary Syndrome: Diagnostic and Prognostic Assessment.

Current cardiology reports
2025

Identification of a Novel EVC2 Variant in a Family with Non-Syndromic Tooth Agenesis and Its Potential Functional Implications.

Genes
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Analysis of the Occurrence of PIK3CA Gene Mutation in Children with Lymphatic Malformation-Single Center Study.

Children (Basel, Switzerland)
2025

Expanding the phenotype associated with biallelic SCNM1 variants.

Human genomics
2026

Temporal bone and multisystem phenotypic stratification in oculo-auriculo-vertebral spectrum using high-resolution CT: Correlation with tasse severity score.

European journal of radiology
2025

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

European journal of pediatrics
2025

Unusual Presentation of Hypopituitarism Caused by Internal Carotid Artery Aneurysm.

Cureus
2025

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.

Journal of visualized experiments : JoVE
2025

Ascending Vertical Vein Aneurysm.

Methodist DeBakey cardiovascular journal
2025

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network.

Paediatric and perinatal epidemiology
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Pulmonary vascular Ehlers-Danlos syndrome with hemoptysis as the main manifestation: CT and histologic findings of lung parenchymal damage.

Orphanet journal of rare diseases
2025

Cronkhite-Canada syndrome presenting with chronic diarrhea: A case report.

Medicine
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Crowned dens syndrome combined with cervical disc herniation: A case report and literature review.

Medicine
2025

Lifespan Normative Modeling of Brain Microstructure.

bioRxiv : the preprint server for biology
2025

Characterizing Dementia Phenotypes from Unstructured EHR Notes with Generative AI and Interpretable Machine Learning.

medRxiv : the preprint server for health sciences
2025

POEMS syndrome complicated by portal hypertension resembling decompensated cirrhosis: a case report and diagnostic insights.

Frontiers in medicine
2025

[Mitral Valvuloplasty in a Patient with Left Inferior Vena Cava with Hemiazygos Continuation:Report of a Case].

Kyobu geka. The Japanese journal of thoracic surgery
2025

Artificial intelligence in presymptomatic neurological diseases: Bridging normal variation and prodromal signatures.

Revue neurologique
2026

An Evidence-Based Practical Review on Common Benign Anorectal Disorders: Hemorrhoids, Anal Fissure, Dyssynergic Defecation, and Fecal Incontinence.

Gastroenterology
2026

Cranial base and midfacial morphology in pfeiffer syndrome: A 3D quantitative analysis.

Journal of stomatology, oral and maxillofacial surgery
2026

Myocardial calcification revealed by postmortem computed tomography in a case of infantile myocardial ischemia caused by anomalous origin of the left coronary artery from the pulmonary artery.

Legal medicine (Tokyo, Japan)
2026

Stent Barrier Technique for Aortic Root Thrombus.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2025

Pituitary Apoplexy Masquerading as Intractable Headache in a 66-Year-Old Man: A Case Report.

The Journal of emergency medicine
2025

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

BMC pulmonary medicine
2025

Symptomatic anomalous right coronary artery in mother and daughter, a case report.

Journal of cardiothoracic surgery
2025

Imaging of Congenital and Developmental Conditions of the Temporomandibular Joint.

Neuroimaging clinics of North America
2025

A case of hypoplasia of internal carotid artery and intracranial vasculopathy with Moyamoya syndrome in association with Alagille syndrome.

Journal of cerebrovascular and endovascular neurosurgery
2025

Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in MYLK and FBN2: a case report.

Frontiers in genetics
2025

Unplanned revascularization and major adverse cardiac events in spontaneous coronary artery disease patients: insights from a cardiac center.

BMC cardiovascular disorders
2025

Transitioning adolescents with rare forms of diabetes to adult care: challenges and perspectives.

Endocrine connections
2025

Specific cardiovascular morphology on computed tomography angiography in patients with right isomerism.

Pediatrics international : official journal of the Japan Pediatric Society
2026

Lateral mandibular ridge: A unique feature of the auriculocondylar syndrome.

European journal of radiology
2025

Biomarkers of balance and gait deficits in FMR1 premutation carriers: a mini-review.

Frontiers in aging neuroscience
2025

Comprehensive Orthodontic Therapy and Retention Protocol in Freeman-Sheldon Syndrome: A Case Report.

Cureus
2025

Efficacy of a Mobile Multidisciplinary Digital Therapeutics App for Patellofemoral Pain: Randomized Controlled Trial.

JMIR mHealth and uHealth
2025

Large Airway and Lung Findings in Symptomatic Children and Young Adults With Down Syndrome.

Pediatric pulmonology
2025

'Congenitally corrected' Scimitar syndrome? An anomalous unilateral single pulmonary vein variant.

BMJ case reports
2025

Pharyngeal Arches, Chapter 3: Craniofacial Syndromes.

The Journal of craniofacial surgery
2025

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

Case reports in nephrology and dialysis
2026

Contributing Factors for Angle's Class III Phenotype in Crouzon Syndrome.

European journal of paediatric dentistry
2025

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Clinical genetics
2026

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics
2026

Technical Success of Stent Placement via Transradial Approach for Aberrant Right Subclavian Artery Stenosis.

Vascular and endovascular surgery
2025

Software-based analysis of T-wave morphology: identifying the electrocardiogram signature of high-risk long QT syndrome.

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

Adams-Oliver syndrome: an unusual congenital disorder.

Oxford medical case reports
2025

Deep Learning-Powered Down Syndrome Detection Using Facial Images.

Life (Basel, Switzerland)
2025

Rare features in Feingold syndrome type 1.

European journal of medical genetics
2026

Are There Morphophysiological Airway Alterations in Syndromic Craniosynostosis? A 3D Computed Tomography and CFD Analysis.

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

Clinical and Prognostic Significance of Anomalous Origin of a Coronary Artery in Adults.

Circulation
2025

Alteration of the follicular fluid amino acid profile reveals the important roles of several amino acids in embryo quality in patients with polycystic ovary syndrome.

Reproductive biology and endocrinology : RB&amp;E
2025

A Review of Digital Eye Strain: Binocular Vision Anomalies, Ocular Surface Changes, and the Need for Objective Assessment.

Journal of eye movement research
2025

Serial chest computed tomography imaging in a freediver with a case of pulmonary barotrauma of descent (lung squeeze) showing the time course of resolution.

Diving and hyperbaric medicine
2025

Machine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions.

Sensors (Basel, Switzerland)
2026

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.

HGG advances
2025

Contrast-Enhanced Ultrasonography for Clinical Assessment of Vertebral Artery Origin Pathologies.

Ultrasound in medicine &amp; biology
2026

A Clinically Relevant Classification System for Pediatric Talocalcaneal Coalition.

Journal of pediatric orthopedics
2026

Pterygoid bone malformation and its limitations on the effectiveness of brachycephalic airway corrective surgery in brachycephalic dogs.

The Journal of small animal practice
2026

A complex case of recurrent bilateral alternating orbital inflammation associated to VEXAS syndrome.

Orbit (Amsterdam, Netherlands)
2025

Horner Syndrome Secondary to Suspected Internal Carotid Artery Dissection in a Golden Retriever.

Journal of veterinary internal medicine
2025

Next-generation morphology, a novel multilayer morphometric digital analysis, reveals both the basic topology and new trends of myelodysplasia of peripheral blood specimens.

British journal of haematology
2025

An in-depth analysis of coronary computed tomography angiography segmental findings in acute spontaneous coronary artery dissection - a prospective multicenter study.

Journal of cardiovascular computed tomography
2025

Association of PAX3 Gene Polymorphism with Three-Dimensional Nasal Root Morphology.

International journal of molecular sciences
2025

Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis-Varon syndrome.

Frontiers in genetics
2025

A rare case of parachute mitral valve and dual drainage of the left upper pulmonary vein in a patient with Kabuki syndrome.

Cardiology in the young
2025

Management of asymmetrical presentation of non-syndromic mandibular supernumerary teeth: a case report.

Annals of medicine and surgery (2012)
2025

Uncommon Ileo-Cecal Intussusception in Adults: A Case Report of Diagnosis and Management.

The American journal of case reports
2026

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Clinical genetics
2025

Situs inversus totalis with pleural empyema: a clue to ciliary dysfunction.

BMJ case reports
2025

Update on congenital stapes footplate fixation and juvenile otosclerosis.

Current opinion in otolaryngology &amp; head and neck surgery
2025

Application of the ADEM definition to cerebral attacks of MOG antibody-associated disease.

Multiple sclerosis (Houndmills, Basingstoke, England)
2025

Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.

Interdisciplinary cardiovascular and thoracic surgery
2025

The Impact of Visceral Fat Accumulation on 24-h Urine Chemistries and Stone-Recurrence in Patients With Urolithiasis.

International journal of urology : official journal of the Japanese Urological Association
2025

A rare pediatric case of Li-Fraumeni syndrome presenting with virilization symptoms and dual primary malignancies on magnetic resonance imaging and [18F]-fluorodeoxyglucose positron emission tomography/computed tomography.

Pediatric radiology
2025

Transient Ischaemic Attacks in a Girl with Subclavian Steal Syndrome.

Journal of mother and child
2025

Diabetes insipidus as a presentation of lung adenocarcinoma: a case report.

Journal of medical case reports
2025

Van Maldergem syndrome-1 in a patient with central precocious puberty: A case report.

Medicine
2025

The Kabuki Syndrome in 18 F-FDG-PET/CT.

Clinical nuclear medicine
2025

An Unusual Case of Left-Sided Poland Syndrome Presenting with Diaphragmatic Hernia and Mediastinal Shift with Absence of Hand and Scapular Deformity.

Journal of orthopaedic case reports
2025

Circumaortic Left Renal Vein Causing Combined Nutcracker Syndrome: A Case Report and Literature Review.

Archivos espanoles de urologia
2025

Case of a Middle-Aged Woman with Sick Sinus Syndrome and Cor Triatriatum Dexter.

Brazilian journal of cardiovascular surgery
2025

Venovenous extracorporeal membrane oxygenation catheter related superior vena cava syndrome without pre-existing stenosis in an adult patient: a case report.

BMC pulmonary medicine
2026

Transcatheter Versus Surgical Correction of Superior Sinus Venosus Defects: Comparison of the Outcomes and Late Complications.

Pediatric cardiology
2025

Three-dimensional tooth morphology in patients with tooth agenesis and its association to agenesis pattern, severity, and sex.

Scientific reports
2025

Machine learning-based identification of biochemical markers to predict hepatic steatosis in patients at high metabolic risk.

World journal of gastroenterology
2025

Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect.

Frontiers in pediatrics
2025

Imaging in animal models: bridging experimental findings and human pathophysiology.

Critical care (London, England)
2025

Cronkhite-Canada Syndrome Presenting as Diarrhea and Weight Loss: A Case Report and Literature Review.

The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi
2025

Feingold syndrome with GJB2 variants.

Auris, nasus, larynx
2025

Eagle syndrome presenting with cardiac sinoatrial arrest and recurrent syncope.

BMJ case reports
2025

Acute splenic torsion in an adolescent with polysplenia syndrome: case report.

Italian journal of pediatrics
2026

Exercise in Patients With Bicuspid Aortic Valve and Aortic Dilation.

The Annals of thoracic surgery
2025

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.

BMC medical genomics
2025

Correlation between fatigue and pulmonary involvement in the post-COVID-19 condition: a cross-sectional study 6-12 months after hospital discharge.

BMJ open
2025

Clinical characteristics of patients with SALL1-related disorder.

Pediatric nephrology (Berlin, Germany)
2025

[Chilaiditi's syndrome-A rare anatomical variant of the colon].

Chirurgie (Heidelberg, Germany)
2025

Enhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.

The Journal of craniofacial surgery
2025

Fistulograms for the management of recurrent and atypical congenital neck anomalies.

International journal of pediatric otorhinolaryngology
2025

Inflammatory back pain associated with nail-patella syndrome: A case report.

Medicine
2025

[Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Moyamoya Disease and Syndrome in Adults: A Report of Four Cases.

Cureus
2025

Unraveling cerebrovascular involvement in EGPA through digital subtraction angiography: case presentation and systematic literature review.

BMC rheumatology
2025

[Differential Diagnosis of Conductive Hearing Loss].

Laryngo- rhino- otologie
2025

EGR3 Deletion Rescues Developmental and Epileptic Encephalopathy in Kcna1-null Mice.

bioRxiv : the preprint server for biology
2026

Perineural Invasion of the Facial Nerve Presenting as Rapid-Onset Excruciating Facial Pain and Paralysis.

The Annals of otology, rhinology, and laryngology
2025

Incidental brain uptake of Gallium-68 DOTATATE positron emission tomography/computed tomography scan in patients with neuroendocrine tumors: a case report and literature review.

Chinese clinical oncology
2025

Optimizing C-Type Natriuretic Peptide and Receptor Expression Analysis with Droplet Digital™ PCR: Advancing Biomarker Discovery for Brugada Syndrome?

Biomolecules
2025

Clarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.

The Journal of craniofacial surgery
2025

[Remarkable improvement of metastatic occipital condyle syndrome in a patient with lung adenocaricinoma treated with osimertinib].

Rinsho shinkeigaku = Clinical neurology
2025

Is There a Relationship Between Styloid Process Morphology and Symptoms Associated With Eagle Syndrome?

The Annals of otology, rhinology, and laryngology
2025

Osler-Weber-Rendu Syndrome: A Case Report and Brief Literature Review.

South Dakota medicine : the journal of the South Dakota State Medical Association
2025

The cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients.

Neuroradiology
2025

Current Developments on [18F]FDG PET/CT in Inflammatory Disorders of the Central Nervous System.

Seminars in nuclear medicine
2026

Clinical approach to anatomical variations of maxillary sinus - a surgical perspective.

Folia morphologica
2025

Peripheral arteriovenous malformations: Diagnosis and future prospects.

Presse medicale (Paris, France : 1983)
2025

[Pulmonary amyloidosis in Sjögren's syndrome: a case report].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
2025

Multimodality Imaging in Presurgical Evaluation of Total Anomalous Pulmonary Venous Connection: Single-Center Practice Variability and a Systematic Review of Diagnostic Error.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2025

Histological differences between brachycephalic and normocephalic dog palatine tonsils.

Research in veterinary science
2025

Novel compound heterozygous PIEZO1 variants in dehydrated hereditary stomatocytosis initially suspected as myelodysplastic syndromes: a case report.

Frontiers in oncology
2025

Complex genitourinary anomaly presenting in adolescence: should antenatal kidney abnormalities prompt future screening for Mullerian abnormalities?

BMJ case reports
2025

SARS-CoV-2 associated encephalitis.

Journal of infection in developing countries
2025

Contemporary diagnosis and management of spontaneous coronary artery dissection.

Heart (British Cardiac Society)
2025

Long-Term Clinical Outcomes of Adults Hospitalized for COVID-19 Pneumonia.

Emerging infectious diseases
2025

Comparative Analysis of Coronary Artery Anomalies Originating From the Pulmonary Artery: Clinical Presentation, Imaging Findings, and Surgical Outcomes in Diverse Age Groups.

Heart, lung &amp; circulation
2025

Home-Based Care Management for Patients Post-Heart Failure Index Hospitalization: A Comprehensive Review.

Cureus
2025

Longitudinal alterations of gut mycobiota during 2 years after COVID-19 and its correlation with pulmonary sequela.

Microbiology spectrum
2025

Portal vein dilation in Klippel-Trenaunay and CLOVES syndromes.

International angiology : a journal of the International Union of Angiology
2025

Functional Compression of the Right Internal Carotid Artery by the Hyoid Bone in a Patient with Moyamoya Syndrome and Low Internal Carotid Artery Bifurcation: A Case Report.

Vascular health and risk management
2025

Semi-automated three-dimensional analysis of maxillary anomalies in patients with Muenke syndrome, Saethre-Chotzen syndrome or TCF12-related craniosynostosis: A retrospective study.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Abdominal vascular compression syndromes: A pictorial review.

European journal of radiology
2025

Bilateral Alternate Orbital and Ocular Manifestations in a VEXAS Syndrome Patient.

Ocular immunology and inflammation
2025

[Radiology of cysts: Analysis and classification of pulmonary and hepato-pancreatic cysts on imaging].

Annales de pathologie
2025

Chronobiology of Mood Disorders: The Role of the Biological Clock in Depression and Bipolar Disorder.

Biological psychiatry
2025

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases.

Clinical genetics
2025

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.

Case reports in perinatal medicine
2025

Post-COVID-19 condition in patients receiving invasive positive pressure ventilation or high flow nasal cannula therapy.

Respiratory investigation
2026

Next-generation Approaches in Targeting Polycystic Ovarian Syndrome: Innovative Strategies.

Current medicinal chemistry
2025

Outcomes of Virtually Assisted Personalized Tracheostomy Tubes for Congenital Airway Anomalies.

The Laryngoscope
2025

Bilateral elongated styloid process in an Early Middle Age individual from the south-east of Spain: elongation, angulation, and clinical implications.

Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur
2025

Diagnostic dilemma of a new endobronchial lesion in a patient on anti-tuberculosis regimen: unveiling tuberculosis immune reconstitution inflammatory syndrome.

BMC infectious diseases
2025

Prevalence of Persistent Cardiovascular and Pulmonary Abnormalities on PET/MRI and DECT Imaging in Long COVID Patients.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine
2025

Predictors of Unfavorable Outcomes in COVID-19-Related Sepsis: A Prospective Cohort Study.

Viruses
2025

Clinical features and diagnostic challenges in crowned dens syndrome: a systematic review and meta-analysis.

Rheumatology international
2025

Brain Structural Abnormalities in Patients with Post-COVID-19 Headache.

Neurology international
2025

Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.

International journal of cardiology. Heart &amp; vasculature
2026

Myocardial Late Enhancement With Photon-Counting Detector CT in Spontaneous Coronary Artery Dissection: Prospective Comparison With Cardiac MRI.

Investigative radiology
2025

Anatomical variation of the superficial branch of the radial nerve and brachioradialis tendon: a case report with embryological and clinical insights.

Folia medica
2025

Bone marrow lesions related to bone marrow edema syndromes and osteonecrosis.

Orthopadie (Heidelberg, Germany)

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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. Orofacial clefting in PHF6-related B&#xf6;rjeson-Forssman-Lehmann syndrome.
    BMJ case reports· 2026· PMID 41741118mais citado
  2. Postpartum reversible cerebral vasoconstriction syndrome: a rare but severe cause of postpartum headache.
    BMJ case reports· 2026· PMID 41644200mais citado
  3. [Research progress in diagnosis and treatment of non-tumorous salivary gland diseases].
    Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences· 2026· PMID 41633579mais citado
  4. Central hypoventilation and choking episodes revealing Chiari malformation type I.
    BMJ case reports· 2026· PMID 41513282mais citado
  5. An Evidence-Based Practical Review on Common Benign Anorectal Disorders: Hemorrhoids, Anal Fissure, Dyssynergic Defecation, and Fecal Incontinence.
    Gastroenterology· 2026· PMID 41236452mais citado
  6. Is the combination of bilateral pulmonary nodules and mosaic attenuation on chest CT specific for DIPNECH?
    Orphanet J Rare Dis· 2021· PMID 34809674recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2272(Orphanet)
  2. MONDO:0009792(MONDO)
  3. Ictiose Hereditaria(PCDT · Ministério da Saúde)
  4. GARD:2960(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55782174(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

Síndrome de ictiose-anomalias orais e digitais
Compêndio · Raras BR

Síndrome de ictiose-anomalias orais e digitais

ORPHA:2272 · MONDO:0009792
🇧🇷 Brasil SUS
Geral
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
OMIM
258840
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1850268
Wikidata
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