Raras
Buscar doenças, sintomas, genes...
Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas
ORPHA:1321CID-10 · Q87.2OMIM 211930DOENÇA RARA
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Introdução

O que você precisa saber de cara

📋

Esta é uma lista de doenças começando com a letra "C".

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
3
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q87.2
🇧🇷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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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
Pico2026142 papers
Linha do tempo
2026Hoje · 2026
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

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Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas

Centros para Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas

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

Mavacamten Derivatives Significantly Ameliorate Lipopolysaccharide-Induced Acute Lung Injury, Partly by Modulating Nuclear Factor Kappa‑B Signaling.

ACS pharmacology &amp; translational science2026 Mar 13

Acute lung injury (ALI) and Acute respiratory distress syndrome (ARDS) are critical pulmonary disorders marked by excessive inflammation and cytokine storm, often resulting in respiratory failure and high mortality, especially if untreated. Mavacamten, a first-in-class cardiac myosin ATPase inhibitor (small-molecule), is known for reducing pathological hypercontractility; however, its role in ALI/ARDS remains unexplored. Recently, we synthesized and reported the novel mavacamten derivatives incorporating the 6-chloro-3-isopropyl-1-methylpyrimidine-2,4-(1H,3H)-dione scaffold via a catalyst-free method. This study aimed to investigate the anti-inflammatory and antioxidant activities of mavacamten and its derivatives (17 compounds) using LPS-induced inflammation models in vitro and in vivo (LPS-induced mouse model). Initial screening by IL-6 inhibition results demonstrated that mavacamten and its derivatives (5d and 5o) significantly reduced IL-6 levels compared to the LPS control and other derivatives. Further, in vitro analysis showed 5d and 5o treatment significantly downregulated the LPS-induced elevation of several key pro-inflammatory markers (IL-1β, IL-6, TNF-α, CCL2, and F4/80) and oxidative stress indicators (ROS, nitric oxide, and p-cofilin), while restoring caveolin-1 levels. Furthermore, in vivo administration of 5d and 5o (1.5 and 3 mg/kg) significantly attenuated LPS-induced increase in lung and heart indices, reduced systemic inflammatory markers (monocytes, WBCs, and neutrophils), and restored platelet and lymphocyte counts, indicating mitigation of inflammatory cell infiltration at the injury site. Gene and protein expression analyses confirmed a reduction in the expression of inflammatory markers dose dependently. Histopathological examination revealed that 5d and 5o markedly alleviated LPS-induced lung (alveolar edema, wall thickening) and heart (myocardial inflammation) abnormalities. Mechanistic findings demonstrate that compounds 5d and 5o effectively reduced the LPS-induced inflammation and tissue injury by modulating NF-κB signaling in both in vitro and in vivo conditions, highlighting their translational potential as therapeutic candidates for the treatment of ALI/ARDS.

#2

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience2026 Apr

Congenital Zika syndrome (CZS) represents a spectrum of fetal and neonatal abnormalities resulting from in utero Zika virus (ZIKV) transmission during pregnancy. Given the severe multisystem disabilities, relative recency of the epidemic and limited long-term data, comprehensive characterization at specialized centres is crucial. This study aimed to examine clinical symptoms, brain imaging and brain activity (video electroencephalography, VEEG) patterns in children with CZS receiving care at a specialized rehabilitation centre. We conducted a cross-sectional study from August 2018 to January 2019 with 48 children diagnosed with CZS according to the Brazilian Ministry of Health criteria. We collected clinical data from electronic medical records. The most common clinical problems included bladder and bowel incontinence (97.9%), epilepsy (85.5%), facial abnormalities (89%), swallowing difficulties (83.3%), excessive irritability (81.3%), eye misalignment (75%), sleep problems (72.9%), acid reflux (62.0%) and vision problems (62.5%). Brain imaging revealed reduced brain tissue volume (95.8%), abnormal corpus callosum (91.1%), enlarged fluid-filled spaces in the brain (89.5%), calcium deposits at the brain's outer layers (78.3%) and abnormally thick brain folds (71.1%). We found significant links between bone/muscle malformations and both white matter disease (p = 0.036) and enlarged brain ventricles (p = 0.031). Children with CZS consistently show motor difficulties, multiple clinical problems and characteristic brain abnormalities. These findings predict significant limitations in daily activities, movement and cognitive-social development.

#3

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences2026 Feb 27

Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial anomaly detected on second-trimester ultrasound. Fetal DNA obtained by amniocentesis underwent next-generation sequencing. Parental testing was performed to assess inheritance. It was confirmed that autosomal dominant Stickler syndrome type I (ORPHA:90653) was caused by a heterozygous pathogenic frameshift variant in COL2A1 (c.3137del) that was inherited from the mother and identified in the fetus. Micrognathia was identified during prenatal ultrasound, and postnatal evaluation revealed characteristics that were consistent with Pierre Robin sequence and connective tissue involvement. The molecular discoveries elucidated the observed phenotype and facilitated multidisciplinary perinatal management. This case underscores the indispensable function of molecular diagnostics in the prenatal identification of monogenic disorders, including Stickler syndrome, in cases where conventional karyotyping is inadequate. Targeted clinical surveillance and family counseling are facilitated by early genetic confirmation. The report also emphasizes the necessity of incorporating molecular diagnostics into routine prenatal care for rare genetic diseases and the systemic limitations in access to genomic testing. Although the identified variant has been previously reported, this case highlights the clinical and diagnostic value of prenatal molecular confirmation in a resource-limited healthcare setting.

#4

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

European journal of human genetics : EJHG2026 Mar 03

Limb malformations are paradigmatic of altered gene regulation in human disease. Nail-Patella Syndrome (NPS) is a rare condition characterized mainly by skeletal defects, glomerulonephritis and glaucoma, with variable expressivity. NPS is caused by the haploinsufficiency or loss-of-function of LMX1B, which encodes a transcription factor involved in limb dorsalization, in the renal glomerular filtration barrier and the anterior segment of the eye. The dorsal expression of LMX1B in the developing limbs is under the control of LMX1B autoregulatory modules (LARMs), which are non-coding cis-regulatory elements (CREs) with a limb-specific enhancer activity. Here, we describe the regulatory landscape and report regulatory anomalies at the LMX1B locus in four families, including the deletion of a CRE, two structural variations disrupting the CRE-promoter interaction, and a 5'UTR variant causing an upstream open reading frame (ORF). Molecular mechanisms involving the non-coding genome can have a tissue-specific impact on gene expression, resulting in incomplete forms of the syndrome, and sometimes modifying its classical mode of inheritance. While approximately 95% of individuals with NPS carry pathogenic variants in the coding regions of LMX1B, non-coding alterations explain the remaining cases. This work highlights the importance of genomic diagnosis (gene ORF versus CRE alteration) for precision medicine and genetic counselling in rare diseases.

#5

Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 10

The human developmental disorder 3MC syndrome (Malpuech, Michels, Mingarelli, and Carnevale) features skeletal deformities associated with a deficiency of the pattern recognition molecule collectin-11 (CL-11), yet the underlying molecular and cellular mechanisms remain uncertain. Here, we demonstrate that CL-11 deletion alone does not produce skeletal abnormalities in mice; however, combined deficiencies of CL-11 with complement components MASP-2 (lectin pathway), complement factors B, or C3 (alternative pathway amplification) result in marked vertebral bone loss and spinal curvature by 12 wk of age. Ex vivo osteoclast (OCL) differentiation from bone marrow-derived cells of these double-knockout mice was profoundly impaired but was substantially restored by CL-11 supplementation. This dependence on CL-11 and complement was recapitulated in human OCLs derived from induced pluripotent stem cell lines. CL-11 and the membrane attack complex (C5b-9) colocalized to OCLs and their precursors in normal bone from embryonic development through to adulthood. Together, these findings identify CL-11 as a key regulator of osteoclastogenesis and bone homeostasis acting in concert with complement-mediated signaling, and they nominate CL-11 as a potential therapeutic target in conditions involving dysregulated osteoclast function and bone remodeling.

Publicações recentes

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Effect of Lee Silverman Voice Treatment-BIG Intervention Versus Balance Training via Tele-rehabilitation on Balance and Functional Mobility Among Community-Dwelling Elderly: A Comparative Study.

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Development of metabolic syndrome by increasingly fructose-enriched water in Wistar rats.

Journal of molecular histology
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Tailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.

Acta chirurgica Belgica
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Unexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.

Frontiers in surgery
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The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

The American journal of pathology
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Robo2-Nrxn3 Deficiency: A Molecular Hub Linking Excitation-Inhibition Imbalance to the Pathogenesis of Schizophrenia.

Schizophrenia bulletin
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Beyond the tear: the enduring role of aortic pathology in the era of genomic medicine.

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Mavacamten Derivatives Significantly Ameliorate Lipopolysaccharide-Induced Acute Lung Injury, Partly by Modulating Nuclear Factor Kappa‑B Signaling.

ACS pharmacology &amp; translational science
2026

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.

American journal of medical genetics. Part A
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Transvenous biopsy of body cistyc lesions in a 32-year-old man with cloves syndrome and thrombocytopenia: a safe option for high bleeding risk patients.

CVIR endovascular
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Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome.

Journal of cachexia, sarcopenia and muscle
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Oral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.

Oral diseases
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Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
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Spectrum and Clinical Reproductive Significance of Cytogenetic Abnormalities in Infertility and Recurrent Early Pregnancy Loss: A Five-Year Retrospective Study of 10,285 Cases.

Cureus
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Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.

Cureus
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Bony Stroke: Clinical Features, Management, and Outcomes in a Case Series of Seven Patients.

Cureus
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The e ffec t of the nose fo rm o n lin ear and a ngular lip po sitio n in C l as s II patients.

JPMA. The Journal of the Pakistan Medical Association
2026

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

International journal of molecular sciences
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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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Silent Lung Injury: Acute Respiratory Distress Syndrome without Chest Trauma Following a High-Level Fall.

International medical case reports journal
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[Advantageous therapeutic pathways and mechanisms of Jianpi Huogu Formula in treating steroid-induced osteonecrosis of femoral head based on multi-source heterogeneous data integration of disease-syndrome-formula framework].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2025

[Advance in research on MIRAGE syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
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Clear Cell Foci as Precursors of Hepatocyte Nuclear Factor 1-alpha-inactivated Hepatocellular Adenoma in a Metabolic Syndrome Mouse Model.

Acta histochemica et cytochemica
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Clinical Features and Outcomes of Spontaneous Tumor Lysis in Testicular Germ Cell Tumors: A Case Series From a Cancer Center in Lahore, Pakistan.

Cureus
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Proteomic analysis of tissue-derived extracellular vesicles shows region-specific molecular changes in a rat model of takotsubo syndrome.

Scientific reports
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Absence of lumbosacral plexus abnormalities in preschool children with tethered cord syndrome: A multiparametric MRI study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
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Case Report: Whole-genome sequencing of urothelial carcinoma in an adult patient with CLOVES syndrome reveals a lack of PIK3CA mutation and a genomic landscape consistent with urothelial carcinoma.

Frontiers in oncology
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Bilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment.

Cureus
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Cardiac Tamponade and Arrest Secondary to Simultaneous Gastric and Sigmoid Volvulus With Sigmoid Obstruction From an Incarcerated Left Inguinal Hernia.

Cureus
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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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Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Congenital anomalies
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β-Nicotinamide mononucleotide preserves muscle strength in septic male mice.

Scientific reports
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Clinical Insights into Operative Hysteroscopy Using the Bigatti Shaver: A Pioneer's Perspective From Indonesia.

Journal of gynecology obstetrics and human reproduction
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Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.

Disease models &amp; mechanisms
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Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Frontiers in cardiovascular medicine
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Dual-energy CT based low flow rate, low dose CTPA and lung perfusion in the pulmonary diagnosis of post-COVID-19 syndrome.

Frontiers in medicine
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Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

European journal of human genetics : EJHG
2026

Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.

Proceedings of the National Academy of Sciences of the United States of America
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Hypercalciuria in Sanjad-Sakati Syndrome: A Retrospective Evaluation of Kidney Involvement Indicators.

Cureus
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Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.

JPRAS open
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Cortisol and testosterone: Which is more important in metabolic syndrome men.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
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Cell-type-specific alternative splicing in the brain and kidney of a Setbp1S858R Schinzel-Giedion syndrome mouse.

Disease models &amp; mechanisms
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Unique mineralization pattern revealed in TBCK syndrome mouse model.

bioRxiv : the preprint server for biology
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Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.

Journal of clinical medicine
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From Metabolism to Mind: The Cardio-Metabolic-Brain Axis and the Role of Insulin Resistance-A Review.

Biomedicines
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Kaempferol ameliorates PCOS by alleviating metabolic and endocrine abnormalities as well as oxidative stress.

Steroids
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Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

European journal of human genetics : EJHG
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A transient receptor potential vanilloid 1-dependent corneal-trigeminal neuroinflammatory circuit promotes corneal neuropathy.

Experimental &amp; molecular medicine
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From Thymic Hypoplasia to Immune Reconstitution: An Immunological Review of DiGeorge Syndrome.

Scandinavian journal of immunology
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Neutrophil extracellular traps in gynecological disease: pathogenic mechanisms and therapeutic opportunities.

Frontiers in medicine
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Left Ventricular Pericardial Strangulation: A Diagnostic Challenge in Acute Coronary Syndrome.

Methodist DeBakey cardiovascular journal
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Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.

PloS one
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Clinical Guidelines for the Diagnosis and Management of Generalized and Partial Lipodystrophies: A Position Statement Endorsed by the Hellenic Endocrine Society.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
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Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.

Frontiers in immunology
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Aplasia cutis congenita of the scalp with skull defect: an individual patient data systematic review of clinical features and treatment approaches.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
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Not So Normal Skin: A Review of the "Random" Skin Biopsy.

The American Journal of dermatopathology
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Interplay of Lifestyle Social Determinants and Isolation in the Risk of Metabolic Syndrome Among Spanish Workers.

Cureus
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In Search of a Biomarker for Vasculopathy Associated with Metabolic Syndrome.

Handbook of experimental pharmacology
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Nuclear receptors: a pandora of hope for metabolic syndrome.

Nucleosides, nucleotides &amp; nucleic acids
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Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.

JCEM case reports
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Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.

International journal of molecular sciences
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Loss of Myofilaments in Gastrointestinal Smooth Muscle: A Novel Pathological Finding in MELAS-Associated Chronic Intestinal Pseudo-Obstruction.

Neurogastroenterology and motility
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Date palm pollen extract improves fertility and pregnancy outcomes in letrozole-induced polycystic ovary syndrome rats.

Journal of molecular histology
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Cardiometabolic Syndromes and Associated Cardiovascular Risks: A Narrative Review.

Journal of vascular research
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Hydrogel-imposed boundary conditions guide single-lumen neuroepithelial morphogenesis.

bioRxiv : the preprint server for biology
2026

Complete bilateral second branchial cleft fistula in an adolescent: a rare case report with literature review.

Annals of medicine and surgery (2012)
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Phenotyping Dysautonomia in Unexplained Syncope: Diagnostic Yield and Therapeutic Implications in a Moroccan Cohort.

Cureus
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Protective role of early Tnfsf15 upregulation in limiting glomerular injury and proteinuria in experimental Alport Syndrome.

Journal of pharmacological sciences
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Levetiracetam prevents Aβ production through SV2a-dependent modulation of APP processing in Alzheimer's disease models.

Science translational medicine
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Therapeutic Potential of Mesenchymal Stem Cells in Pediatric Kidney Disorders: A Comprehensive Review.

Health science reports
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Supravalvular aortic stenosis with aneurysmal dilation and infective vegetations of the aortic arch in a pediatric patient with Williams syndrome: a case report and review of the literature.

Journal of medical case reports
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Integrative metabolomics and proteomics reveal early cardiovascular risk signatures in PCOS female offspring.

Journal of ovarian research
2026

Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.

WIREs mechanisms of disease
2026

Ureteral versus appendiceal Mitrofanoff channels: a retrospective analysis of functional outcomes and complications.

BMC surgery
2026

Molecular convergence enables precision medicine for pediatric low grade gliomas.

Discover oncology
2026

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

Unilateral accessory tragi in a cat.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2026

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

Neuromuscular disorders : NMD
2026

Approach to the Patient: Therapeutic Mitigation of Lacrimal Manifestations in Thyroid Eye Disease.

The Journal of clinical endocrinology and metabolism
2026

Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.

Archives of endocrinology and metabolism
2026

Orosomucoid 2 improves reproductive phenotypes in a mouse model of PCOS induced by letrozole under high-fat diet conditions.

Molecular human reproduction
2025

The interactions between autophagy and immune in the liver-adipose-ovary circuit of polycystic ovary syndrome.

Frontiers in immunology
2026

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.

BMC medical genomics
2026

Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.

International journal of pediatric otorhinolaryngology
2026

Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.

Journal of human genetics
2026

Downregulated ECHS1 and HADH-mediated fatty acid β-oxidation contributes to mitochondrial dysfunction in salivary glands of Sjögren's syndrome.

Journal of translational autoimmunity
2026

Marfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report.

International journal of clinical pediatric dentistry
2026

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.

American journal of human biology : the official journal of the Human Biology Council
2026

Endothelial NLRP3 inflammasome activation drives immunothrombosis in Streptococcus pyogenes infection.

Life sciences
2026

Chronic fatigue syndrome induced by environmental toxic exposure: Effects of polyhexamethyleneguanidine phosphate exposure on mitochondrial function and neural health.

Environmental research
2025

Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome.

Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
2026

Fetal MRI: abdominal cystic lesions.

Insights into imaging
2025

Case Report: Postmenopausal hyperandrogenism misled by adrenal incidentaloma: a rare case of androgen-secreting ovarian adult granulosa cell tumor and clinical implications.

Frontiers in oncology
2026

High Prevalence of Anthropometric-Only Obesity and Cardiometabolic Risk: Evidence from a Population-Based Study.

Nutrients
2026

Gaps in Current Cardiometabolic Risk Assessment: A Review Supporting the Development of the C.O.R.E. Indicator Model.

Journal of clinical medicine
2026

Gut Microbiota in Lipodystrophies and Obesity: A Common Signature?

Microorganisms
2026

State-of-the-Art Research and New Pharmacological Perspectives on Renal Involvement in Duchenne Muscular Dystrophy: A Narrative Review.

Biomedicines
2026

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Genes
2026

Comprehensive Analysis of the Influence of Soft Palate Inflammation in Brachycephalic Dogs with BOAS III.

Animals : an open access journal from MDPI
2026

The Role of Imaging Techniques in the Evaluation of Extraglandular Manifestations in Patients with Sjögren's Syndrome.

Diagnostics (Basel, Switzerland)
2025

Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team.

Cureus
2025

Investigation of Dietary Habits, Anthropometric Profile, and Hormone Levels of Women of Childbearing Age With Polycystic Ovary Syndrome (PCOS).

Cureus
2026

Molecular profile of pediatric pseudotumor cerebri: the role of apelin isoforms and oxidative stress.

BMC pediatrics
2026

Persistent organic pollutants: Neurotoxic mechanisms and insights from organoid models.

Toxicology
2026

Integrated metabolomic and proteomic analysis of cardiac tissues in a murine model of Kawasaki disease.

Journal of pharmaceutical and biomedical analysis
2026

Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2026

Yangjing Zhongyu decoction ameliorates polycystic ovary syndrome via multi-organ ferroptosis inhibition: A mechanistic study.

Journal of ethnopharmacology
2026

Immune thrombocytopenia in patients with connective tissue disease.

Clinical rheumatology
2026

Annular Pancreas Presenting with Intermittent Duodenal Obstruction in Early Childhood: A Diagnostic Masquerade.

Reports (MDPI)
2026

Orthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.

Clinical and experimental dental research
2026

Clinical presentations of macrodactyly in adults vs. children: a descriptive analysis.

The Journal of hand surgery, European volume
2026

Hypercalcemia of malignancy in a dog with cutaneous apocrine gland carcinoma and malignant myoepithelioma.

Veterinary research communications
2025

A Clinico-Epidemiological Study of Scrub Typhus Cases in a Tertiary Care Center of a Non-endemic Area.

Cureus
2025

Assessment of Thyroid Hormone Status Among Patients With Chronic Kidney Disease in a Tertiary Care Center: A Cross-Sectional Study.

Cureus
2025

Entirely Right-Sided Colon: A Case Report.

Cureus
2026

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome.

American journal of medical genetics. Part A
2026

Growth factor analysis in children with non-syndromic orofacial clefts: a systematic review.

BMC oral health
2026

A typical canine Ehlers-Danlos-like syndrome without collagen abnormalities: a suspected case of Tenascin-X deficiency.

BMC veterinary research
2026

Mitochondrial AR overactivation coupled with uterine decidual mitochondrial defects in PCOS-associated pregnancy loss.

The Journal of endocrinology
2025

Quantitative Assessment of Visual Function in Japanese Patients With Lecithin-Cholesterol Acyltransferase Gene Abnormalities: A Case-Control Study.

Cureus
2025

Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management.

Cureus
2026

Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.

Journal of orthopaedic case reports
2026

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.

European journal of pediatrics
2026

Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.

Case reports in ophthalmology
2025

Identification and Evaluation of Menstruation-Related Disorders in Adolescent Girls Attending a Tertiary Care Center: An Observational Study.

Cureus
2026

Primary pulmonary hypoplasia masquerading as pneumonia in a preterm neonate and creating a diagnostic challenge: a case report.

Journal of medical case reports
2026

Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.

Human reproduction (Oxford, England)
2025

Degradation of Elastic Fiber Triggers Lacrimal Gland Dysfunction in Marfan Syndrome Mice.

Investigative ophthalmology &amp; visual science
2025

Effectiveness of Delivery Room Continuous Positive Airway Pressure in Term Neonates With Respiratory Distress: A Single-Center Experience.

Cureus
2026

Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case.

Case reports in radiology
2026

The Sh3Pxd2bnee-/- mouse reveals developmental features of Frank-ter Haar syndrome.

Development (Cambridge, England)
2026

Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.

Scientific reports
2025

Anaesthetic Management of a Patient with Marfan Syndrome Undergoing Elective Ventral Hernia Repair.

Healthcare (Basel, Switzerland)
2026

Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.

Diagnostics (Basel, Switzerland)
2026

Virus-induced endothelial senescence as a cause and driving factor for ME/CFS and long COVID: mediated by a dysfunctional immune system.

Cell death &amp; disease
2026

Congenital perineal and perianal lipoma with and without anorectal malformation. A case series of eleven patients and updated literature review.

Journal of pediatric surgery
2026

Spinal Pathologies Associated With Loeys-Dietz Syndrome: A Systematic Review.

Global spine journal
2025

Comparative Real-World Safety Profiles of Six Selective Serotonin Reuptake Inhibitors: A Global Pharmacovigilance Analysis.

Cureus
2025

Surveillance of a PLOD gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies.

Journal of veterinary research
2026

Structural and functional gastrointestinal abnormalities in ACTA2 R179H mice modeling multisystemic smooth muscle dysfunction syndrome.

JCI insight
2026

SARS-CoV-2 Spike Protein-Mediated Cardiac Dysfunction: Structural Abnormalities, Impaired Calcium Dynamics, and Gene Expression Changes in Human Stem Cell-Derived Cardiomyocytes.

Journal of medical virology
2026

Violaceous Pretibial Plaques: A Clue to Periodontal Variant of Ehlers-Danlos Syndrome.

Fetal and pediatric pathology
2026

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity.

American journal of medical genetics. Part A
2026

Magnetic resonance imaging of penile Prostheses: A pictorial review of normal appearances and complications.

European journal of radiology
2026

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.

The American journal of case reports
2025

Adipose-androgen crosstalk in polycystic ovary syndrome: mechanisms and therapeutic implications.

Frontiers in endocrinology
2026

A 4-Decade Population-Based Registry of Thoracic Aortic Dissection Causing Sudden Death in the Young.

JACC. Advances
2025

A Rare Case of Müllerian Agenesis With a Giant Tumor Arising From Uterine Remnants.

Case reports in obstetrics and gynecology
2025

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

Medicina (Kaunas, Lithuania)
2025

Clinical Validation of a Fast MRI Method to Evaluate Brain Vascular and Parenchymal Abnormalities in Sturge-Weber Syndrome.

Journal of magnetic resonance imaging : JMRI
2025

Differential phenotypes in mice with smooth muscle-specific heterozygous versus homozygous deletion of Stk11.

Scientific reports
2025

Biophysical basis for brain folding and misfolding patterns in ferrets and humans.

eLife
2025

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery.

Clinical, cosmetic and investigational dermatology
2026

Usefulness of salivary gland ultrasonography in Sjögren's syndrome: The Tunisian Experience.

Clinical rheumatology
2025

CXCR4 antagonism corrects neutrophil abnormalities and reduces pneumonia severity in a pharmacological mouse model of CXCR2 loss-of-function-mediated neutropenia.

Frontiers in immunology
2025

Beyond Traditional Risk Factors: Inflammation, Asymmetric Dimethylarginine, and N-Terminal pro-B-Type Natriuretic Peptide Predict Cardiovascular Risk in Chronic Kidney Disease.

Cureus
2026

Clinical Significance of Molecular Genetic Analysis in Diffuse Intrinsic Pontine Glioma: Two Case Reports.

Pediatric blood &amp; cancer
2026

Integrated Multi-Omic Analysis Identifies Altered Colonic Brush Border Profile as a Key Feature of Microscopic Colitis.

United European gastroenterology journal
2025

Why and How Are Infants with Hutchinson-Gilford Progeria Syndrome Born Without Severe Manifestations?

Medical sciences (Basel, Switzerland)
2025

Trained immunity attenuated acute lung injury by activating alveolar macrophages via AKT2-PDK1 axis-mediated metabolic reprogramming.

Journal of translational medicine
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

Brain perfusion scintigraphy with [99mTc]Tc-HMPAO in patients with autoimmune diseases.

Nuclear medicine review. Central &amp; Eastern Europe
2026

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

Orbit (Amsterdam, Netherlands)
2025

Kisspeptin mediates the impact of chronic psychological stress on reproductive and metabolic dysregulation in polycystic ovary syndrome: evidence from human and rat models.

Journal of ovarian research
2026

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.

DEN open
2025

The role of interleukin-37 and interleukin-38 in the development and remission of autism spectrum disorder: a comprehensive review of neuroinflammatory mechanisms and potential therapeutic implications.

Frontiers in immunology
2025

Cardiac Postpneumonectomy Syndrome.

Annals of thoracic surgery short reports
2025

Pyometrocolpos: A Case Series and Proposed Management Framework for the Pediatric Infectious Diseases Consultant.

The Pediatric infectious disease journal
2025

The association of point-of-care coagulation testing with bleeding symptoms in patients with Ehlers-Danlos syndrome: an exploratory cross-sectional study.

Canadian journal of anaesthesia = Journal canadien d'anesthesie
2025

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

Cureus
2025

Weather and Seasonality Associations With Vestibular Neuritis.

Cureus
2025

Chest Imaging Findings and Tissue Biopsy Experience in a Patient with Type IV Ehlers-Danlos Syndrome: A Case Report.

Journal of the Korean Society of Radiology
2025

Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts.

Acta neuropathologica communications
2025

Identification of Novel and Recurrent FBN1 Gene Mutations in Two Unrelated Turkish Families with Isolated Ectopia Lentis: A Case Report with Insights from a Literature Review.

Molecular syndromology
2025

WNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction.

BMC oral health
2025

Another ciliopathy? Uncovering the ciliary basis of biliary atresia.

Hepatology international
2025

Characteristics of the meibomian gland in a population without dry eye symptoms.

Scientific reports
2025

[POEMS syndrome misdiagnosed as systemic sclerosis: A case report].

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

Case Report: Skeletal and cardiovascular alterations compatible with a connective tissue disorder in an elderly dog.

Frontiers in veterinary science
2026

Clinical application of preimplantation genetic testing for pathogenic microdeletion and microduplication based on an effective and convenient sequencing platform.

Journal of assisted reproduction and genetics
2025

Late Gadolinium Enhancement in Takotsubo Syndrome: Mechanism and Its Clinical Significance.

Echocardiography (Mount Kisco, N.Y.)
2025

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

Praxis
2026

Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.

Journal of inherited metabolic disease
2025

Tibial Nerve Palsy Secondary to Spontaneous Isolated Popliteus Muscle Rupture and Localized Compartment Syndrome.

Diagnostics (Basel, Switzerland)
2025

Alterations in Resident Immune Cells in Prenatal Trisomy 21 Lungs.

Cells
2025

Unveiling the Spectrum of Liver Endurance in Systemic Lupus Erythematosus: A Single-Center Experience From Kashmir, India.

Cureus
2025

Sternotomy healing by secondary intention in a complex single ventricle patient after stage 1 palliation.

Journal of cardiothoracic surgery
2025

Modulation of PI3K/AKT/mTOR signaling pathway by combined stem cell and phytochemical treatment improves metabolic and reproductive outcomes in PCOS.

Journal of ovarian research
2026

Transcriptome analyses reveal the fertility defect in the Dp(16)1Yey/+ mouse model of Down syndrome.

Journal of assisted reproduction and genetics
2026

Muscle mitochondrial changes in antisynthetase syndrome and other idiopathic inflammatory myopathies.

Journal of neuropathology and experimental neurology
2025

Mitral Valve Repair for Mitral Regurgitation Associated with Antiphospholipid Syndrome: A Case Report.

Surgical case reports
2025

Clinical presentation of the accessory soleus muscle: a quantitative systematic review.

Surgical and radiologic anatomy : SRA
2026

A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.

Molecular genetics and metabolism
2026

Video-Polysomnography in Peripheral Nerve Hyperexcitability: Clues to Morvan Syndrome in Two Patients and Literature Review.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2025

A Rare Autopsy Finding of Müllerian and Renal Agenesis Linked to Suspected AMHR2 Pathway Disruption.

Cureus
2025

Delayed Dexamethasone Absorption from Gluteal Abscesses: Persistent Iatrogenic Cushing Syndrome.

Clinical medicine insights. Endocrinology and diabetes
2025

Macrophages in ventricular remodeling and heart failure: orchestrators of inflammation and repair.

Frontiers in immunology
2026

Mapping cardiac innervation in the long QT syndrome type 1 transgenic mouse model using whole heart imaging.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2026

Findings in younger versus older patients with the symptoms of gastroparesis undergoing gastric electrical stimulation.

Journal of pediatric gastroenterology and nutrition
2025

Omphalocele and patent omphalomesenteric duct with ileal prolapse in a syndromic baby: A case report and review of the literature.

International journal of surgery case reports

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Mavacamten Derivatives Significantly Ameliorate Lipopolysaccharide-Induced Acute Lung Injury, Partly by Modulating Nuclear Factor Kappa&#x2011;B Signaling.
    ACS pharmacology &amp; translational science· 2026· PMID 41852639mais citado
  2. Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· 2026· PMID 41839214mais citado
  3. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    International journal of molecular sciences· 2026· PMID 41828453mais citado
  4. Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
    European journal of human genetics : EJHG· 2026· PMID 41776344mais citado
  5. Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41774788mais citado
  6. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis.
    Orphanet J Rare Dis· 2023· PMID 37710322recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1321(Orphanet)
  2. MONDO:0008900(MONDO)
  3. GARD:1064(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55781705(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas

ORPHA:1321 · MONDO:0008900
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
CID-10
Q87.2 · Síndromes com malformações congênitas afetando predominantemente os membros
OMIM
211930
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1859357
Wikidata
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