A síndrome da hipodontia-displasia ungueal é uma forma de displasia ectodérmica.
Introdução
O que você precisa saber de cara
A síndrome da hipodontia-displasia ungueal é uma forma de displasia ectodérmica.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 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
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements (DARE) in the gene promoter, thereby repressing the transcription of CGA/alpha-GSU and GNRHR (By similarity). Represses transcription of myoblast differentiation factors (By similarity). Binds to core enhancer regions in target gene promoters of myoblast differentiation factors with binding specific
Nucleus
Tooth agenesis, selective, 1
A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients.
Variantes genéticas (ClinVar)
145 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
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 hipodontia-displasia das unhas
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.
Publicações mais relevantes
Cardioacrofacial dysplasia 1: a case report and literature review.
Cardioacrofacial dysplasia 1 [CAFD1; Online Mendelian Inheritance in Man (OMIM): #619142] is a rare skeletal ciliopathy caused by pathogenic variants in the PRKACA gene, exhibiting phenotypic overlap with conditions such as Ellis-van Creveld (EvC) syndrome. To date, only five cases have been reported worldwide, all carrying the identical p. Gly137Arg mutation. A 10-year-old male patient presented with short stature, progressive bilateral knee deformities, post-axial posterior polydactyly, and hypoplasia of teeth and nails since infancy. He had a history of partial atrial septal defect, functional single atrium, and pulmonary valve stenosis, undergoing cardiac repair at age 5 and bilateral polydactyly resection at age 7. Whole-exome sequencing (WES) confirmed a de novo heterozygous mutation in the PRKACA gene: c.409G>A (p.Gly137Arg). At age 10, the patient underwent robot-assisted bilateral proximal tibial epiphyseal fixation. One-month postoperative follow-up demonstrated significant improvement in gait and mobility. To our knowledge, this expands the known geographic distribution with PRKACA c.409G>A (p.Gly137Arg). The finding adds to prior reports that repeatedly implicate this variant; broader ascertainment is needed to establish whether it represents a true hotspot. In patients with an EvC-like phenotype who test negative for EVC/EVC2, screening of PRKACA can be considered. Prior work suggests that increased protein kinase A (PKA) catalytic activity may dampen Hedgehog (Hh) signaling, providing a plausible mechanism for the skeletal and cardiac findings. Early molecular diagnosis facilitates multidisciplinary management and genetic counseling.
Phenotype-associated microvascular differences in pediatric Behçet's disease revealed by nailfold videocapillaroscopy.
Behçet's disease (BD) is a chronic multisystem vasculitis that may begin in childhood. Microvascular dysfunction is central to its pathogenesis, yet pediatric data are scarce. This study evaluated nailfold videocapillaroscopy (NVC) findings in children with BD using standardized methodology and compared microvascular parameters between complete and incomplete disease phenotypes, as well as with age-matched healthy reference data. In this cross-sectional study, pediatric BD patients fulfilling the pediatric Behçet's disease (PEDBD) criteria underwent NVC following the European Alliance of Associations for Rheumatology (EULAR) microcirculation protocol. Capillary density, morphology, and microhemorrhages were compared between complete and incomplete BD and with age-matched healthy reference data. Associations between NVC parameters and clinical or laboratory findings were analyzed. Complete BD patients (n = 15, 40.5%) had significantly lower capillary density and higher apical loop width, tortuosity, dilatation, abnormal capillaries, and microhemorrhage scores than incomplete BD (n = 22, 59.5%). Compared with healthy peers, BD patients showed significantly lower capillary density, arterial and venous diameters, and capillary length but higher intercapillary distance and width. Pediatric BD is associated with distinct NVC abnormalities compared with healthy reference data. Differences in capillary density and morphology were observed between complete and incomplete phenotypes. These findings provide a descriptive overview of phenotype-associated microvascular features in pediatric BD. • Nailfold videocapillaroscopy (NVC) can detect microvascular abnormalities in adult Behçet's disease, but pediatric data are extremely limited. • Childhood-onset Behçet's disease often evolves over time from incomplete to complete phenotype, and reliable objective markers reflecting vascular involvement are lacking. • Pediatric Behçet's disease shows measurable NVC abnormalities compared with healthy children, even in the absence of clinically overt vascular involvement. • Microvascular alterations are significantly more pronounced in complete phenotype than incomplete phenotype, suggesting cumulative vascular burden independent of disease activity scores.
Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.
Coffin-Siris Syndrome (CSS) is a neurodevelopmental disorder caused by variants in genes encoding BRG1- and BRM-associated factor (BAF) chromatin-remodeling complex. ARID1B gene variants are the most common cause of CSS. This study aimed to identify novel pathogenic ARID1B variants in patients clinically diagnosed with CSS and to explore their pathogenic role. In this study, eight patients clinically diagnosed with CSS were enrolled, and whole exome sequencing (WES) was performed to identify potential pathogenic variants. Heterozygous variants in the ARID1B gene were identified in six patients, including one previously reported pathogenic nonsense variant and five novel pathogenic truncating variants. The combined annotation-dependent depletion (CADD) scores of the five novel variants were significantly above the mutation significance cutoff (MSC), suggesting their potential pathogenicity. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), these five novel variants were classified as pathogenic. Our findings add five novel variants to the list of known pathogenic variants of the ARID1B gene. This study further clarifies an enhanced connection between ARID1B gene variants and CSS and expands the variant spectrum of CSS. • Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder characterized by developmental delay, intellectual disability, and hypoplasia of the fifth digits or nails. • Pathogenic variants in genes encoding subunits of the BAF chromatin-remodeling complex are the major genetic causes of CSS, with ARID1B being the most frequently mutated gene, and most variants of which are truncating and lead to haploinsuffucuency. • Five novel heterozygous truncating variants in ARID1B were identified in eight patients clinically diagnosed with Coffin-Siris syndrome. • All novel variants showed high CADD scores and were classified as pathogenic according to ACMG guidelines.
Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.
Holstein-Lewis fractures are spiral fractures in the distal third of the humeral shaft, which carry increased risk of radial nerve palsy compared with other humeral shaft fractures; these fractures are usually managed conservatively. However, there is no case in the existing literature that describes the management of Holstein-Lewis fractures with radial nerve entrapment in a patient with a history of total elbow arthroplasty (TEA). Here, we present the first documented case of a complex revision elbow arthroplasty for Holstein-Lewis fracture with delayed onset radial nerve entrapment after a skydiving injury. In patients with Holstein-Lewis fractures who underwent previous TEA, we identify the increased risk of nerve entrapment due to loose metallosis surrounding the fracture site and discuss the operative challenges that these rarer cases pose. We also necessitate the early monitoring of suspected neurapraxia in these patients and highlight the prognostic benefits of performing timely nerve exploration and operative intervention.
Entrapment of the median nerve within the radius following diaphyseal antebrachial fractures treated with nail osteosynthesis in two paediatric patients.
Antebrachial fractures are common among paediatric patients. Some exhibit neurological symptoms, making it initially challenging to determine nerve injury severity. We present two paediatric cases of median nerve entrapment within the radius following mid-shaft antebrachial fractures. Both cases showed persistent sensory and motor deficits, paraesthesia and pain in the distribution area of the median nerve after nail osteosynthesis. Nerve conduction studies and ultrasound suggested nerve entrapment at the fracture site, leading to surgical exploration and nerve autograft repair at 12 months (case 1) and nerve allografting at 34 months (case 2) post injury. At 18 months follow-up, case 1 had regained full sensory function but showed no clinical signs of motor reinnervation. Case 2 regained normal motor function, but sensory function remained impaired at 39 months follow-up. Early recognition and intervention of nerve injuries are crucial for improving the likelihood of better outcomes and minimising the risk of disabling sequelae.
Publicações recentes
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📚 EuropePMCmostrando 198
Cardioacrofacial dysplasia 1: a case report and literature review.
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InjuryUpdated German National S1 Guideline on Pediatric Lower Leg Shaft Fractures.
Zeitschrift fur Orthopadie und UnfallchirurgieIsolated Congenital Hyponychia and Anonychia in a Neonate: A Rare Case.
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European journal of pediatricsCarbon dioxide vs. warm-water hand baths in systemic sclerosis with secondary Raynaud's syndrome - A capillaroscopy centered randomized controlled trial.
Microvascular researchInhibition of RIPK1 prevents keratinocyte cell death and reduces skin inflammation in type 1-mediated chronic inflammatory skin diseases.
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JAAD internationalAdams-Oliver Syndrome: A Clinical Diagnosis in the Genomic Era.
CureusIdentification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.
European journal of pediatricsComplex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.
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Molecular genetics & genomic medicineSFTSV-encoded microRNA-like small RNA as prognostic biomarkers in severe fever with thrombocytopenia syndrome.
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BMJ case reportsCutaneous Infections Caused by Pseudomonas aeruginosa. Clinical Presentation, Diagnosis and Treatment.
Actas dermo-sifiliograficasCase Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.
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The British journal of dermatologyGenetic Syndromes Including Intellectual Disability and Different Cancer Types.
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Annali italiani di chirurgiaDistinct changes in nailfold capillaries are associated with the clinical and serological features of patients with systemic lupus erythematosus.
Seminars in arthritis and rheumatismDiagnostic challenges of yellow nail syndrome in an older patient with recurrent pleural effusion: A case report.
MedicineDevelopment of an LC-MS/MS method for the quantification of sunitinib and its metabolites in human nail and skin.
Journal of pharmaceutical and biomedical analysisMultiple-Site Lichen Planus: An Italian Case Series of 44 Patients.
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BMC musculoskeletal disordersNurse-led secondary preventive follow-up after stroke/TIA and ACS for patients aged 80 years or older: A post-hoc analysis of the randomized controlled NAILED trial.
PloS onePart I. Changes in Nail Color and Vasculature as Signs of Systemic Disease.
Journal of the American Academy of DermatologyA Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.
Molecular syndromologySevere primary hyperparathyroidism with extensive brown tumours and multiple fractures in pregnancy.
BMJ case reportsLate diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.
Ophthalmic geneticsDermatologic Conditions Associated With Various Types of Popular Nail Cosmetics: A Systematic Review of Existing Literature and Future Recommendations.
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European journal of pediatricsAphasia following tibial fracture surgery: A case report.
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Clinical case reportsJunctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion.
International journal of molecular sciencesSpinal Anaesthesia Versus General Anaesthesia for Patients With Tibia Shaft Fractures-A Randomized Controlled Study.
Acta anaesthesiologica Scandinavica[Clinical preliminary observation of RET inhibitors on tear fluid].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology[Recurrence of hypertrophic osteoarthropathy (Pierre-Marie-Bamberger syndrome) as the first clinical indication of a second lung cancer 10 years after initial diagnosis].
Pneumologie (Stuttgart, Germany)Nationwide Analysis of Cardiopulmonary Outcomes After Multiple Long Bone Fracture Fixation.
The Journal of the American Academy of Orthopaedic SurgeonsCan nailfold capillaroscopy findings be a marker for uveitis in Behçet's syndrome?
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Orphanet journal of rare diseasesPlate nail constructs for complex proximal tibia fractures.
Trauma case reportsDiagnosis and management of yellow nail syndrome: An international multi-institutional retrospective cohort study of 111 cases by an expert panel.
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CureusInflammatory back pain associated with nail-patella syndrome: A case report.
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Frontiers in neurologyWitkop's syndrome: a mild phenotype variant of ectodermal dysplasia.
BMJ case reportsAnaesthesia for proximal femoral nailing in a patient with "Rosai Dorfman disease" with prior laryngotracheal reconstruction - Not all rosy as it seems.
Trauma case reportsAtypical presentation of forearm compartment syndrome in a child.
Trauma case reportsCommon Peroneal Nerve Syndrome Following Tibial Shaft Fracture Treated by Intramedullary Nailing Under Regional Anesthesia: A Case Report With 16-Month Follow-Up.
A&A practiceHeimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.
International dental journalNovel familial KDF1 mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases.
Biomedical reportsAbsence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.
American journal of medical genetics. Part ASiblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.
Molecular syndromologyComparison of transverse and longitudinal incisions in tibia intramedullary nailing: Implications for pain, numbness, and functional recovery.
InjuryYellow Nail Syndrome Associated With a Dental Abscess: A Case Report.
CureusA diagnostic journey started with yellow nail syndrome (YNS) ended with the Kartagener's syndrome: a rare case report of coexistence of YNS and Kartagener's syndrome.
Annals of medicine and surgery (2012)[Minimally invasive reduction of ulnar bicortex angulation and intramedullary fixation in the treatment of Bado typeⅠchildren with Monteggia fracture].
Zhongguo gu shang = China journal of orthopaedics and traumatologySplit fingernails, underdeveloped thumbnails, and triangular lunulae.
JAAD case reportsProliferative retinopathy in nail-patella syndrome.
American journal of ophthalmology case reportsTailoring the approach: Management of femur fractures in post-polio syndrome patients.
Journal of clinical orthopaedics and trauma"Terrible Triad" Injury in an Adolescent Patient With a High-Energy Femoral Shaft Fracture: A Case Report.
CureusPerspectives on Talquetamab and its Utility in the Treatment of Multiple Myeloma: Safety, Efficacy and Place in Therapy.
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CureusManagement of congenital ichthyoses: guidelines of care: Part two: 2024 update.
The British journal of dermatologyClinical Insights into Bilateral Cochlear Implantation for a Child with Dominant Deafness-Onychodystrophy Syndrome.
Journal of the American Academy of AudiologyBucillamine-induced Yellow Nail Syndrome with Chylothorax.
Internal medicine (Tokyo, Japan)Titanium elastic nail system in compound tibial fractures in children and adolescents.
International journal of burns and traumaNaegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies.
Frontiers in medicineExtensor Hallucis Longus Contracture Following Intramedullary Nailing for a Pilon Fracture.
CureusEvaluation and diagnosis of longitudinal melanonychia: A clinical review by a nail expert group.
Journal of the American Academy of DermatologyA Mid-Term Result of the Treatment of Intra-Articular Calcaneal Fractures with the Use of Intramedullary Nailing.
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American journal of medical genetics. Part ATreatment of Hereditary Leukonychia with Intramatricial Triamcinolone: A Case Report.
Case reports in dermatologyInternational Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.
American journal of medical genetics. Part AMultifaceted lichen planus: Vulvovaginal-gingival syndrome with coexisting cutaneous, nail, and hair manifestations in a singular clinical saga.
Indian journal of sexually transmitted diseases and AIDSA Comparison of 90-Day Complication Rates Between Intra- and Extra-incisional Pin Sites in Robotic Total Knee Arthroplasty.
The Journal of arthroplastySyndromic fibrous dysplasia of the proximal femur.
BMJ case reportsEllis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.
Journal of orthopaedic case reportsPanoramic Nailfold Flow Velocity Measurement Method Based on Enhanced Plasma Gap Information.
Journal of imaging informatics in medicineIntraoperative Skull Fracture During Halo Application in Subcranial Le Fort III: Strategies for Managing a Rare Complication.
The Journal of craniofacial surgeryA Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.
Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of IndiaImpaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Annals of internal medicineThe role of nailfold video-capillaroscopy in the assessment of dermatomyositis.
Rheumatology (Oxford, England)Idiopathic Developmental Dysplasia of Hip in a Female Child with a Rare Epidermal Syndrome- A Case Report.
Journal of orthopaedic case reportsYellow nail syndrome linked to a mediastinal lipoma: a case report.
Journal of medical case reportsAlterations on Nailfold Videocapillaroscopy in Myelodysplastic Syndrome and Onychomycosis in a Female Smoker: Microvascular Dysfunction Without Connective Tissue Disease.
International journal of rheumatic diseasesBart syndrome with musculoskeletal deformity: a rare case report.
Annals of medicine and surgery (2012)Shanz-assisted Closed Reduction (SACR): A Novel Reduction Technique for Elastic Stable Intramedullary Nailing of Pediatric Forearm Fractures.
Revista brasileira de ortopediaEvidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study.
Scientific reportsIsolated Lesser Toe Checkrein Deformity After Tibial Fracture: A Case Report.
JBJS case connectorFlexible Intramedullary Nail Placement in Pediatric Humerus Fractures.
JBJS essential surgical techniquesFemur Fracture in Klippel Trenaunay Syndrome: A Case Report.
Journal of orthopaedic case reportsRecurrent femoral neck fractures: keep an eye out for Cushing's syndrome.
BMJ case reportsSmoking cessation and prognosis during long-term follow-up after stroke, TIA, and acute coronary syndrome-results from the randomized controlled NAILED trial.
PloS oneRigid intramedullary nailing of lower limb segments in children and adolescents with metabolic bone disease.
Journal of pediatric orthopedics. Part BImpact of Surgical Timing on Fracture Healing in Tibial Shaft Injuries: A Comparative Review of Intramedullary Nailing Techniques.
Cureus[Hallux Extensus as a Rare Complication of Crural Fracture and Its Surgical Treatment].
Acta chirurgiae orthopaedicae et traumatologiae CechoslovacaNailfold Video-Capillaroscopy in Sarcoidosis: New Perspectives and Challenges.
Tomography (Ann Arbor, Mich.)Therapeutic effect of intramedullary reaming and nailing for long bones lengthening in children with Ollier disease and Maffucci syndrome on enchondromas: multicentric retrospective case series.
SICOT-JPerioperative Detection of Cerebral Fat Emboli From Bone Using High-Frequency Doppler Ultrasound.
Ultrasound in medicine & biology"Navigating the tides of recovery": early vs. delayed osteosynthesis for closed tibia fractures complicated by acute compartment syndrome - an analysis of one hundred and three cases.
International orthopaedicsArthroscopic Chondral Nail Fixation for Treating Acetabular Cartilage Delamination Results in Improved Pain Relief at Minimum 2-Year Follow-Up in Patients With Femoroacetabular Impingement Syndrome: A Propensity-Matched Study.
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy AssociationNailfold videocapillaroscopy abnormalities and vascular manifestations in Behçet's syndrome.
Clinical and experimental rheumatologyMigration of the Gamma Nail Neck Screw into the Pelvis with Bladder Damage.
Medical journal of the Islamic Republic of IranCementless, Cruciate-Retaining Primary Total Knee Arthroplasty Using Conventional Instrumentation: Technical Pearls and Intraoperative Considerations.
JBJS essential surgical techniquesNail pitting in an infant with Kawasaki disease-A novel clinical finding.
International journal of rheumatic diseasesA Case Report on the Trilogy of Yellow Nail Syndrome: Yellow Nails, Pleural Effusion, and Lymphedema.
CureusCompartment Syndrome Following Intramedullary Nailing of the Tibia: A Case Report.
Journal of orthopaedic case reportsAbandoning the use of tension in tibial fracture nailing is associated with lower rate for acute compartment syndrome?
Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and TraumatologyFixed prosthodontic rehabilitation using a facially driven fully digital workflow of a patient with syndromic amelogenesis imperfecta associated with a rare form of ectodermal dysplasia, tricho-dento-osseous (TDO) syndrome.
The Journal of prosthetic dentistryNailfold capillaroscopy for diagnosis of onychodystrophies: A prospective cross-sectional study.
Journal of the American Academy of DermatologyInteraction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
The Journal of biological chemistryPrenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.
BMC medical genomicsRadiological manifestations of nail-patella syndrome in a 56-year-old female: A case report.
Radiology case reportsEffects of cardiac rehabilitation on in vivo nailfold microcirculation in patients with cardiovascular disease.
Heart and vesselsPrevalence rates for ectodermal dysplasia syndromes.
American journal of medical genetics. Part ALymphedema in Turner syndrome: correlations with phenotype and karyotype.
Journal of pediatric endocrinology & metabolism : JPEMFemoral nailing associated with bone marrow emboli in pigs induced a specific increase in blood IL-6 and broad inflammatory responses in the heart and lungs.
Frontiers in immunologyUnilateral Onychodystrophy and Puffy Fingers: Think about Carpal Tunnel Syndrome.
SkinmedClinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report.
The Journal of clinical pediatric dentistryBispecific Antibodies for the Management of Relapsed/Refractory Multiple Myeloma.
CancersExtra-articular proximal tibia fracture fixation with locked plating versus intramedullary nailing: A meta-analysis.
InjuryAnalysis of compartment syndromes in lower extremity pediatric and adolescent trauma - are there predictors of a late onset?
Injury[Translated article] Congenital and Hereditary Nail Disease.
Actas dermo-sifiliograficasStitching method for panoramic nail fold images based on capillary contour enhancement.
Journal of biophotonicsRisk factors for acute compartment syndrome in one thousand one hundred and forty seven diaphyseal tibia fractures.
International orthopaedicsCongenital nail abnormalities.
Hand surgery & rehabilitationCandida albicans skin infection in diabetic patients: An updated review of pathogenesis and management.
MycosesNail dysplasia and digital hypoplasia ‒ Coffin-Siris syndrome.
Anais brasileiros de dermatologiaRegional anesthesia is safe for use in intramedullary nailing of low-energy tibial shaft fractures.
InjuryYou are already dead: Case report of nihilistic delusions regarding others as one representation of Cotard's syndrome.
PCN reports : psychiatry and clinical neurosciencesImproving the Quality of Life in Patients With Hypohidrotic Ectodermal Dysplasia: A Holistic Approach.
CureusChrist-Siemens-Touraine Syndrome: A Report of a Rare Pediatric Case.
CureusCorrelation of Specific Inflammatory Markers With the Occurrence of Depression in Patients With Psoriasis and Their Use as Biomarkers for the Diagnosis of Depression.
Dermatology practical & conceptualIntramedullary nailing for floating knee injury complicated by pulmonary fat embolism: A case report and literature review.
Trauma case reportsChild and Adolescent Manganese Biomarkers and Adolescent Postural Balance in Marietta CARES Cohort Participants.
Environmental health perspectivesMultiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.
JAMA dermatologyComputer Hexapod-assisted Orthopaedic Surgery for the Correction of Multiplanar Deformities throughout the Lower Limb.
Strategies in trauma and limb reconstructionLike Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.
The journal of hand surgery Asian-Pacific volumeST-segment elevation myocardial infarction in Nail-Patella syndrome with anomalous coronary anatomy and aneurysms: a case report.
European heart journal. Case reportsNovel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
BMC pediatricsIdentification of a novel de novo mutation in SOX4 for syndromic tooth agenesis.
Clinical oral investigationsAssociation between the severity of hard-to-treat psoriasis and the prevalence of metabolic syndrome: A hospital-based cross-sectional study in Jakarta, Indonesia.
PloS oneA Case of Green Nail Syndrome Diagnosed in the Emergency Department.
CureusHow many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
European journal of medical geneticsA rare case of congenital insensitivity to pain with anhidrosis.
Paediatrics and international child healthFour-Year Follow-Up of a Case of Yellow Nail Syndrome With IgM Deficiency.
CureusX-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene.
Indian journal of dermatology[Analysis of phenotype and pathogenic variant in a case of Heimler syndrome].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryEfficacy of methylprednisolone in very early systemic sclerosis: results of the 'Hit Hard and Early' randomized controlled trial.
Rheumatology (Oxford, England)Beau's Lines and COVID-19; A Systematic Review on Their Association.
Pathogens (Basel, Switzerland)Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.
European journal of ophthalmologyNailfold capillaroscopy findings of a multicentric multi-ethnic cohort of patients with idiopathic inflammatory myopathies.
Clinical and experimental rheumatologyNail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.
Pediatric nephrology (Berlin, Germany)Linear Green Nail Syndrome.
Journal of cutaneous medicine and surgeryGreen Nails, Red Alert: An Unusual Exit site infection Presentation.
Peritoneal dialysis international : journal of the International Society for Peritoneal DialysisZimmermann-Laband syndrome-associated hereditary gingival fibromatosis.
Journal of Indian Society of PeriodontologyThe probable reasons of arsenic susceptibility in a chronically exposed population of West Bengal.
Mutation research. Genetic toxicology and environmental mutagenesisWeyers Acrofacial Dysostosis: A Case Report.
CureusFemoral Nailing in a Porcine Model Causes Bone Marrow Emboli in the Lungs and Systemic Emboli in the Heart and Brain.
JB & JS open accessEllis-van Creveld syndrome: a case report.
JPMA. The Journal of the Pakistan Medical AssociationEstablishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.
Human cellOral and dental abnormalities in Coffin Siris syndrome : A new case report.
La Tunisie medicaleA Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
Molecular syndromologyThe first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.
BMC musculoskeletal disordersLaryngo-Onycho-Cutaneous Syndrome (LOCS).
Pakistan journal of medical sciencesOutcomes Following Fully Threaded Intramedullary Nailing of Metacarpal Fractures.
Journal of hand surgery global onlineExtra-Articular Base Fractures of the Proximal Phalanx in Adults: A Systematic Review.
The journal of hand surgery Asian-Pacific volumeAssociações
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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.
- Cardioacrofacial dysplasia 1: a case report and literature review.
- Phenotype-associated microvascular differences in pediatric Behçet's disease revealed by nailfold videocapillaroscopy.
- Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.
- Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.
- Entrapment of the median nerve within the radius following diaphyseal antebrachial fractures treated with nail osteosynthesis in two paediatric patients.
- Witkop's syndrome: a mild phenotype variant of ectodermal dysplasia.
- Syndromes affecting skin and mucosa.
- Witkop tooth and nail syndrome and orthodontics.
- Dental implications of Tooth-Nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management.
- A nonsense mutation in MSX1 causes Witkop syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2228(Orphanet)
- OMIM OMIM:189500(OMIM)
- MONDO:0008582(MONDO)
- GARD:5587(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7824262(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
