Raras
Buscar doenças, sintomas, genes...
Síndrome de hipodontia-displasia das unhas
ORPHA:2228CID-10 · Q82.4CID-11 · LD27.0YOMIM 189500DOENÇA RARA

A síndrome da hipodontia-displasia ungueal é uma forma de displasia ectodérmica.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome da hipodontia-displasia ungueal é uma forma de displasia ectodérmica.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q82.4
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧬
Pele e cabelo
7 sintomas
🦴
Ossos e articulações
7 sintomas
🦷
Dentes
4 sintomas
😀
Face
1 sintomas
🫘
Rins
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

100%prev.
Agenesia dos dentes permanentes
Muito frequente (99-80%)
100%prev.
Unha do quinto artelho hipoplásica
Frequência: 9/9
100%prev.
Unha côncava
Frequência: 9/9
90%prev.
Morfologia anormal da unha
Muito frequente (99-80%)
90%prev.
Morfologia dentária anormal
Muito frequente (99-80%)
90%prev.
Anormalidade da dentição
Muito frequente (99-80%)
24sintomas
Muito frequente (15)
Frequente (1)
Ocasional (1)
Muito raro (3)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.

Agenesia dos dentes permanentesAgenesis of permanent teeth
Muito frequente (99-80%)100%
Unha do quinto artelho hipoplásicaHypoplastic fifth toenail
Frequência: 9/9100%
Unha côncavaConcave nail
Frequência: 9/9100%
Morfologia anormal da unhaAbnormality of the nail
Muito frequente (99-80%)90%
Morfologia dentária anormalAbnormal dental morphology
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202590 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

MSX1Homeobox protein MSX-1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Specification of the neural plate border
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
129.5 TPM
Cervix Ectocervix
81.9 TPM
Pituitária
38.2 TPM
Útero
33.1 TPM
Tecido adiposo
28.5 TPM
OUTRAS DOENÇAS (7)
tooth agenesis, selective, 1orofacial cleft 5tooth and nail syndromecleft lip and alveolus
HGNC:7391UniProt:P28360

Variantes genéticas (ClinVar)

145 variantes patogênicas registradas no ClinVar.

🧬 MSX1: GRCh38/hg38 4p16.3-15.33(chr4:68454-12774004)x1 ()
🧬 MSX1: NM_002448.3(MSX1):c.359T>G (p.Val120Gly) ()
🧬 MSX1: NM_002448.3(MSX1):c.364_365dup (p.Leu123fs) ()
🧬 MSX1: NM_002448.3(MSX1):c.275C>A (p.Ser92Ter) ()
🧬 MSX1: GRCh37/hg19 4p16.3-16.1(chr4:1752407-7489009)x1 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de 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.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Cardioacrofacial dysplasia 1: a case report and literature review.

Translational pediatrics2026 Feb 28

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.

#2

Phenotype-associated microvascular differences in pediatric Behçet's disease revealed by nailfold videocapillaroscopy.

European journal of pediatrics2026 Feb 23

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.

#3

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

European journal of pediatrics2026 Jan 17

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.

#4

Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.

BMJ case reports2026 Jan 16

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.

#5

Entrapment of the median nerve within the radius following diaphyseal antebrachial fractures treated with nail osteosynthesis in two paediatric patients.

BMJ case reports2026 Jan 05

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

Ver todas no PubMed

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Cardioacrofacial dysplasia 1: a case report and literature review.

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Rigid intramedullary nailing with suprapatellar approach for tibial shaft fractures in adolescents with open physes.

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Updated German National S1 Guideline on Pediatric Lower Leg Shaft Fractures.

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Isolated Congenital Hyponychia and Anonychia in a Neonate: A Rare Case.

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Phenotype-associated microvascular differences in pediatric Behçet's disease revealed by nailfold videocapillaroscopy.

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Carbon dioxide vs. warm-water hand baths in systemic sclerosis with secondary Raynaud's syndrome - A capillaroscopy centered randomized controlled trial.

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Fat Embolism Syndrome Associated With Facet Fracture of the Vertebra: A Case Report.

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Surgical management of green nail syndrome.

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Adams-Oliver Syndrome: A Clinical Diagnosis in the Genomic Era.

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Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

European journal of pediatrics
2026

Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.

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

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Entrapment of the median nerve within the radius following diaphyseal antebrachial fractures treated with nail osteosynthesis in two paediatric patients.

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Cutaneous Infections Caused by Pseudomonas aeruginosa. Clinical Presentation, Diagnosis and Treatment.

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Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.

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Posterior tibial artery pseudoaneurysm after titanium elastic nailing for tibial shaft fracture in a 7-year-old boy.

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

Journal of developmental and behavioral pediatrics : JDBP
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Fat Embolism Syndrome: Evolving Perspectives on Diagnosis and Care.

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Yellow Nail Syndrome: A Differential Diagnosis That Must Be in Mind.

Cureus
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Distinct Nailfold Videocapillaroscopy Findings in Patients With Anti-Aminoacyl-tRNA Synthetase Antibodies.

The Journal of dermatology
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Diffuse centrilobular nodular opacities in yellow nail syndrome.

BMJ case reports
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A 74-Year-Old Man with Massive Ascites: A Case Report of Yellow Nail Syndrome.

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Revolutionizing regeneration: stem cells transform treatment of hidrotic ectodermal dysplasia (Clouston syndrome).

Regenerative medicine
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The Clinical Efficacy and Prognostic Impact of Intramedullary Nail Combined With Either Plates or Titanium Cable Internal Fixation in the Treatment of Femoral Subtrochanteric Fractures.

Annali italiani di chirurgia
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Distinct changes in nailfold capillaries are associated with the clinical and serological features of patients with systemic lupus erythematosus.

Seminars in arthritis and rheumatism
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Diagnostic challenges of yellow nail syndrome in an older patient with recurrent pleural effusion: A case report.

Medicine
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Development of an LC-MS/MS method for the quantification of sunitinib and its metabolites in human nail and skin.

Journal of pharmaceutical and biomedical analysis
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Multiple-Site Lichen Planus: An Italian Case Series of 44 Patients.

Journal of clinical medicine
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Intramedullary nailing versus plate fixation for humeral shaft fractures in geriatric patients: a retrospective cohort study assessing functional outcomes and complication rates.

BMC musculoskeletal disorders
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Nurse-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 one
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Part I. Changes in Nail Color and Vasculature as Signs of Systemic Disease.

Journal of the American Academy of Dermatology
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A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.

Molecular syndromology
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Severe primary hyperparathyroidism with extensive brown tumours and multiple fractures in pregnancy.

BMJ case reports
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Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Ophthalmic genetics
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Dermatologic Conditions Associated With Various Types of Popular Nail Cosmetics: A Systematic Review of Existing Literature and Future Recommendations.

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Novel Compound Heterozygous Variants of DSP Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review.

Case reports in dermatology
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Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

European journal of pediatrics
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Aphasia following tibial fracture surgery: A case report.

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Severe Erythromelalgia Pain Attack in a Young Lebanese Woman Leading to Hospitalization: A Case Report and Literature Review.

Cureus
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Chronic Large Pericardial Effusion Due to Rare Yellow Nail Syndrome.

JACC. Case reports
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Management of forearm fracture in children in 2025.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
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Childhood fibrous dysplasia.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
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Abnormal kinematics of the distal radioulnar joint due to flat bone dysplasia in nail-patella syndrome: a 3D evaluation with dynamic radiostereometry.

BMJ case reports
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Apremilast treatment of immune-mediated inflammatory skin diseases: a narrative review.

Frontiers in pharmacology
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Practical Use of Mixed Reality for Transfacial Pinning in Monobloc Advancement for Syndromic Craniosynostosis.

The Journal of craniofacial surgery
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Oral Minoxidil Use in Yellow Nail Syndrome: Report of 2 Cases.

Skin appendage disorders
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Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.

Neurogenetics
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Management of Middle Third Hypoplasia Using Rigid External Device: Long-Term Analysis of Results and Report of Complications.

The Journal of craniofacial surgery
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Melanonychia: A Challenging Green Nail Syndrome Case Report.

Clinical case reports
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Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in LAMA3 Revealed by 18q11.2 Microdeletion.

International journal of molecular sciences
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Acta anaesthesiologica Scandinavica
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Pneumologie (Stuttgart, Germany)
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Nationwide Analysis of Cardiopulmonary Outcomes After Multiple Long Bone Fracture Fixation.

The Journal of the American Academy of Orthopaedic Surgeons
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Can nailfold capillaroscopy findings be a marker for uveitis in Behçet's syndrome?

Clinical and experimental rheumatology
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Lessons learned from a muscle study in nail-patella syndrome.

Orphanet journal of rare diseases
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Plate nail constructs for complex proximal tibia fractures.

Trauma case reports
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Diagnosis and management of yellow nail syndrome: An international multi-institutional retrospective cohort study of 111 cases by an expert panel.

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Clinical and experimental dermatology
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A Rare Case of Bullous Lichen Planus in a Young Male Patient With Nephrotic Syndrome.

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

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

BMC oral health
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Psoriasis: an emerging risk factor for ischemic stroke?

Frontiers in neurology
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Witkop's syndrome: a mild phenotype variant of ectodermal dysplasia.

BMJ case reports
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Anaesthesia for proximal femoral nailing in a patient with "Rosai Dorfman disease" with prior laryngotracheal reconstruction - Not all rosy as it seems.

Trauma case reports
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Atypical presentation of forearm compartment syndrome in a child.

Trauma case reports
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Common Peroneal Nerve Syndrome Following Tibial Shaft Fracture Treated by Intramedullary Nailing Under Regional Anesthesia: A Case Report With 16-Month Follow-Up.

A&amp;A practice
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Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.

International dental journal
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Novel familial KDF1 mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases.

Biomedical reports
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Absence of Neurodevelopmental Impairment in an Individual With KCNN3 -Related Zimmermann Laband Syndrome.

American journal of medical genetics. Part A
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Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.

Molecular syndromology
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Comparison of transverse and longitudinal incisions in tibia intramedullary nailing: Implications for pain, numbness, and functional recovery.

Injury
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Yellow Nail Syndrome Associated With a Dental Abscess: A Case Report.

Cureus
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A 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)
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[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 traumatology
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Split fingernails, underdeveloped thumbnails, and triangular lunulae.

JAAD case reports
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Proliferative retinopathy in nail-patella syndrome.

American journal of ophthalmology case reports
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Tailoring the approach: Management of femur fractures in post-polio syndrome patients.

Journal of clinical orthopaedics and trauma
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"Terrible Triad" Injury in an Adolescent Patient With a High-Energy Femoral Shaft Fracture: A Case Report.

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Clinical Insights into Bilateral Cochlear Implantation for a Child with Dominant Deafness-Onychodystrophy Syndrome.

Journal of the American Academy of Audiology
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Bucillamine-induced Yellow Nail Syndrome with Chylothorax.

Internal medicine (Tokyo, Japan)
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Titanium elastic nail system in compound tibial fractures in children and adolescents.

International journal of burns and trauma
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Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies.

Frontiers in medicine
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Extensor Hallucis Longus Contracture Following Intramedullary Nailing for a Pilon Fracture.

Cureus
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Evaluation and diagnosis of longitudinal melanonychia: A clinical review by a nail expert group.

Journal of the American Academy of Dermatology
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A Mid-Term Result of the Treatment of Intra-Articular Calcaneal Fractures with the Use of Intramedullary Nailing.

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Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM.

American journal of medical genetics. Part A
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Treatment of Hereditary Leukonychia with Intramatricial Triamcinolone: A Case Report.

Case reports in dermatology
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International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.

American journal of medical genetics. Part A
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Multifaceted lichen planus: Vulvovaginal-gingival syndrome with coexisting cutaneous, nail, and hair manifestations in a singular clinical saga.

Indian journal of sexually transmitted diseases and AIDS
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The Journal of arthroplasty
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Syndromic fibrous dysplasia of the proximal femur.

BMJ case reports
2025

Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.

Journal of orthopaedic case reports
2025

Panoramic Nailfold Flow Velocity Measurement Method Based on Enhanced Plasma Gap Information.

Journal of imaging informatics in medicine
2025

Intraoperative Skull Fracture During Halo Application in Subcranial Le Fort III: Strategies for Managing a Rare Complication.

The Journal of craniofacial surgery
2024

A 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 India
2025

Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.

Annals of internal medicine
2025

The role of nailfold video-capillaroscopy in the assessment of dermatomyositis.

Rheumatology (Oxford, England)
2024

Idiopathic Developmental Dysplasia of Hip in a Female Child with a Rare Epidermal Syndrome- A Case Report.

Journal of orthopaedic case reports
2024

Yellow nail syndrome linked to a mediastinal lipoma: a case report.

Journal of medical case reports
2024

Alterations on Nailfold Videocapillaroscopy in Myelodysplastic Syndrome and Onychomycosis in a Female Smoker: Microvascular Dysfunction Without Connective Tissue Disease.

International journal of rheumatic diseases
2024

Bart syndrome with musculoskeletal deformity: a rare case report.

Annals of medicine and surgery (2012)
2024

Shanz-assisted Closed Reduction (SACR): A Novel Reduction Technique for Elastic Stable Intramedullary Nailing of Pediatric Forearm Fractures.

Revista brasileira de ortopedia
2024

Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study.

Scientific reports
2024

Isolated Lesser Toe Checkrein Deformity After Tibial Fracture: A Case Report.

JBJS case connector
2024

Flexible Intramedullary Nail Placement in Pediatric Humerus Fractures.

JBJS essential surgical techniques
2024

Femur Fracture in Klippel Trenaunay Syndrome: A Case Report.

Journal of orthopaedic case reports
2024

Recurrent femoral neck fractures: keep an eye out for Cushing's syndrome.

BMJ case reports
2024

Smoking cessation and prognosis during long-term follow-up after stroke, TIA, and acute coronary syndrome-results from the randomized controlled NAILED trial.

PloS one
2025

Rigid intramedullary nailing of lower limb segments in children and adolescents with metabolic bone disease.

Journal of pediatric orthopedics. Part B
2024

Impact of Surgical Timing on Fracture Healing in Tibial Shaft Injuries: A Comparative Review of Intramedullary Nailing Techniques.

Cureus
2024

[Hallux Extensus as a Rare Complication of Crural Fracture and Its Surgical Treatment].

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca
2024

Nailfold Video-Capillaroscopy in Sarcoidosis: New Perspectives and Challenges.

Tomography (Ann Arbor, Mich.)
2024

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-J
2025

Perioperative Detection of Cerebral Fat Emboli From Bone Using High-Frequency Doppler Ultrasound.

Ultrasound in medicine &amp; biology
2025

"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 orthopaedics
2025

Arthroscopic 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 &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2024

Nailfold videocapillaroscopy abnormalities and vascular manifestations in Behçet's syndrome.

Clinical and experimental rheumatology
2024

Migration of the Gamma Nail Neck Screw into the Pelvis with Bladder Damage.

Medical journal of the Islamic Republic of Iran
2024

Cementless, Cruciate-Retaining Primary Total Knee Arthroplasty Using Conventional Instrumentation: Technical Pearls and Intraoperative Considerations.

JBJS essential surgical techniques
2024

Nail pitting in an infant with Kawasaki disease-A novel clinical finding.

International journal of rheumatic diseases
2024

A Case Report on the Trilogy of Yellow Nail Syndrome: Yellow Nails, Pleural Effusion, and Lymphedema.

Cureus
2024

Compartment Syndrome Following Intramedullary Nailing of the Tibia: A Case Report.

Journal of orthopaedic case reports
2024

Abandoning 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 Traumatology
2025

Fixed 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 dentistry
2025

Nailfold capillaroscopy for diagnosis of onychodystrophies: A prospective cross-sectional study.

Journal of the American Academy of Dermatology
2024

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

The Journal of biological chemistry
2024

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

BMC medical genomics
2024

Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report.

Radiology case reports
2025

Effects of cardiac rehabilitation on in vivo nailfold microcirculation in patients with cardiovascular disease.

Heart and vessels
2024

Prevalence rates for ectodermal dysplasia syndromes.

American journal of medical genetics. Part A
2024

Lymphedema in Turner syndrome: correlations with phenotype and karyotype.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

Femoral 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 immunology
2024

Unilateral Onychodystrophy and Puffy Fingers: Think about Carpal Tunnel Syndrome.

Skinmed
2024

Clinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report.

The Journal of clinical pediatric dentistry
2024

Bispecific Antibodies for the Management of Relapsed/Refractory Multiple Myeloma.

Cancers
2024

Extra-articular proximal tibia fracture fixation with locked plating versus intramedullary nailing: A meta-analysis.

Injury
2024

Analysis of compartment syndromes in lower extremity pediatric and adolescent trauma - are there predictors of a late onset?

Injury
2024

[Translated article] Congenital and Hereditary Nail Disease.

Actas dermo-sifiliograficas
2024

Stitching method for panoramic nail fold images based on capillary contour enhancement.

Journal of biophotonics
2024

Risk factors for acute compartment syndrome in one thousand one hundred and forty seven diaphyseal tibia fractures.

International orthopaedics
2024

Congenital nail abnormalities.

Hand surgery &amp; rehabilitation
2024

Candida albicans skin infection in diabetic patients: An updated review of pathogenesis and management.

Mycoses
2024

Nail dysplasia and digital hypoplasia ‒ Coffin-Siris syndrome.

Anais brasileiros de dermatologia
2024

Regional anesthesia is safe for use in intramedullary nailing of low-energy tibial shaft fractures.

Injury
2023

You are already dead: Case report of nihilistic delusions regarding others as one representation of Cotard's syndrome.

PCN reports : psychiatry and clinical neurosciences
2024

Improving the Quality of Life in Patients With Hypohidrotic Ectodermal Dysplasia: A Holistic Approach.

Cureus
2024

Christ-Siemens-Touraine Syndrome: A Report of a Rare Pediatric Case.

Cureus
2024

Correlation 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 &amp; conceptual
2024

Intramedullary nailing for floating knee injury complicated by pulmonary fat embolism: A case report and literature review.

Trauma case reports
2024

Child and Adolescent Manganese Biomarkers and Adolescent Postural Balance in Marietta CARES Cohort Participants.

Environmental health perspectives
2024

Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

JAMA dermatology
2024

Computer Hexapod-assisted Orthopaedic Surgery for the Correction of Multiplanar Deformities throughout the Lower Limb.

Strategies in trauma and limb reconstruction
2024

Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.

The journal of hand surgery Asian-Pacific volume
2024

ST-segment elevation myocardial infarction in Nail-Patella syndrome with anomalous coronary anatomy and aneurysms: a case report.

European heart journal. Case reports
2024

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

BMC pediatrics
2024

Identification of a novel de novo mutation in SOX4 for syndromic tooth agenesis.

Clinical oral investigations
2024

Association between the severity of hard-to-treat psoriasis and the prevalence of metabolic syndrome: A hospital-based cross-sectional study in Jakarta, Indonesia.

PloS one
2024

A Case of Green Nail Syndrome Diagnosed in the Emergency Department.

Cureus
2024

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

European journal of medical genetics
2024

A rare case of congenital insensitivity to pain with anhidrosis.

Paediatrics and international child health
2024

Four-Year Follow-Up of a Case of Yellow Nail Syndrome With IgM Deficiency.

Cureus
2024

X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene.

Indian journal of dermatology
2024

[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 surgery
2025

Efficacy of methylprednisolone in very early systemic sclerosis: results of the 'Hit Hard and Early' randomized controlled trial.

Rheumatology (Oxford, England)
2024

Beau's Lines and COVID-19; A Systematic Review on Their Association.

Pathogens (Basel, Switzerland)
2024

Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.

European journal of ophthalmology
2024

Nailfold capillaroscopy findings of a multicentric multi-ethnic cohort of patients with idiopathic inflammatory myopathies.

Clinical and experimental rheumatology
2024

Nail-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)
2024

Linear Green Nail Syndrome.

Journal of cutaneous medicine and surgery
2024

Green Nails, Red Alert: An Unusual Exit site infection Presentation.

Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis
2023

Zimmermann-Laband syndrome-associated hereditary gingival fibromatosis.

Journal of Indian Society of Periodontology
2024

The probable reasons of arsenic susceptibility in a chronically exposed population of West Bengal.

Mutation research. Genetic toxicology and environmental mutagenesis
2024

Weyers Acrofacial Dysostosis: A Case Report.

Cureus
2024

Femoral Nailing in a Porcine Model Causes Bone Marrow Emboli in the Lungs and Systemic Emboli in the Heart and Brain.

JB &amp; JS open access
2024

Ellis-van Creveld syndrome: a case report.

JPMA. The Journal of the Pakistan Medical Association
2024

Establishment 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 cell
2023

Oral and dental abnormalities in Coffin Siris syndrome : A new case report.

La Tunisie medicale
2024

A 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 syndromology
2024

The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.

BMC musculoskeletal disorders
2024

Laryngo-Onycho-Cutaneous Syndrome (LOCS).

Pakistan journal of medical sciences
2024

Outcomes Following Fully Threaded Intramedullary Nailing of Metacarpal Fractures.

Journal of hand surgery global online
2024

Extra-Articular Base Fractures of the Proximal Phalanx in Adults: A Systematic Review.

The journal of hand surgery Asian-Pacific volume

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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. Cardioacrofacial dysplasia 1: a case report and literature review.
    Translational pediatrics· 2026· PMID 41810204mais citado
  2. Phenotype-associated microvascular differences in pediatric Beh&#xe7;et's disease revealed by nailfold videocapillaroscopy.
    European journal of pediatrics· 2026· PMID 41731170mais citado
  3. Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.
    European journal of pediatrics· 2026· PMID 41545737mais citado
  4. Complex revision elbow arthroplasty for periprosthetic Holstein-Lewis fracture with delayed onset radial nerve entrapment after skydiving injury.
    BMJ case reports· 2026· PMID 41545217mais citado
  5. Entrapment of the median nerve within the radius following diaphyseal antebrachial fractures treated with nail osteosynthesis in two paediatric patients.
    BMJ case reports· 2026· PMID 41494707mais citado
  6. Witkop's syndrome: a mild phenotype variant of ectodermal dysplasia.
    BMJ Case Rep· 2025· PMID 40555530recente
  7. Syndromes affecting skin and mucosa.
    Atlas Oral Maxillofac Surg Clin North Am· 2014· PMID 25171995recente
  8. Witkop tooth and nail syndrome and orthodontics.
    Angle Orthod· 2008· PMID 18251614recente
  9. Dental implications of Tooth-Nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management.
    J Clin Pediatr Dent· 2004· PMID 14969367recente
  10. A nonsense mutation in MSX1 causes Witkop syndrome.
    Am J Hum Genet· 2001· PMID 11369996recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2228(Orphanet)
  2. OMIM OMIM:189500(OMIM)
  3. MONDO:0008582(MONDO)
  4. GARD:5587(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Síndrome de hipodontia-displasia das unhas
Compêndio · Raras BR

Síndrome de hipodontia-displasia das unhas

ORPHA:2228 · MONDO:0008582
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
Q82.4 · Displasia ectodérmica (anidrótica)
CID-11
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0406716
Wikidata
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