Raras
Buscar doenças, sintomas, genes...
Síndrome de atraso de crescimento-braquidactilia-dismorfia

Rara deleção parcial do braço longo do cromossomo 14 caracterizada por anomalias oculares (anoftalmia/microftalmia, ptose, hipertelorismo, exoftalmia), anomalias hipofisárias (hipoplasia/aplasia hipofisária com deficiência de hormônio do crescimento e retardo de crescimento) e anomalias de mãos/pés (polidactilia, dedos curtos, pés cavos). Outras características clínicas podem incluir hipotonia muscular, atraso no desenvolvimento psicomotor/deficiência intelectual, sinais dismórficos (assimetria facial, microretrognatia, palato arqueado alto, anomalias do ouvido), malformações geniturinárias congênitas, deficiência auditiva. Deleções 14q22 menores podem ter expressão variável.

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Introdução

O que você precisa saber de cara

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Rara deleção parcial do braço longo do cromossomo 14 caracterizada por anomalias oculares (anoftalmia/microftalmia, ptose, hipertelorismo, exoftalmia), anomalias hipofisárias (hipoplasia/aplasia hipofisária com deficiência de hormônio do crescimento e retardo de crescimento) e anomalias de mãos/pés (polidactilia, dedos curtos, pés cavos). Outras características clínicas podem incluir hipotonia muscular, atraso no desenvolvimento psicomotor/deficiência intelectual, sinais dismórficos (assimetria facial, microretrognatia, palato arqueado alto, anomalias do ouvido), malformações geniturinárias congênitas, deficiência auditiva. Deleções 14q22 menores podem ter expressão variável.

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Sinais e sintomas

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

Partes do corpo afetadas

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Face
6 sintomas
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Ossos e articulações
6 sintomas
👂
Ouvidos
4 sintomas
👁️
Olhos
3 sintomas
📏
Crescimento
3 sintomas
🧠
Neurológico
2 sintomas

+ 12 sintomas em outras categorias

Características mais comuns

Hipertelorismo
Baixa estatura
Atraso global do desenvolvimento
Orelhas com rotação posterior
Micrognatia
Orelha em concha
40sintomas
Sem dados (40)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 40 características clínicas mais associadas, ordenadas por frequência.

HipertelorismoHypertelorism
Baixa estaturaShort stature
Atraso global do desenvolvimentoGlobal developmental delay
Orelhas com rotação posteriorPosteriorly rotated ears
MicrognatiaMicrognathia

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Últimos 10 anos200publicações
Pico2026194 papers
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2025Hoje · 2026
Publicações por ano (últimos 10 anos)

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🇧🇷 Atendimento SUS — Síndrome de atraso de crescimento-braquidactilia-dismorfia

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Back pain in an adolescent: not just a sore spine!

Ecancermedicalscience2026

Acute lymphoblastic leukaemia (ALL) can mimic diverse musculoskeletal conditions, often resulting in diagnostic delays. Genetic predisposition to various cancer syndromes further complicates the clinical picture, influencing disease presentation and treatment response. We report an adolescent boy who presented with a 2-month history of episodic fever, persistent low back pain and non-migratory joint pain, with a history of growth failure, developmental delay and seizures since childhood. There was a history of malignancy in multiple family members. The clinical examination revealed no features suggestive of systemic involvement. The joint examination revealed swelling around the knee joints. Initial work-up for chronic infections and autoimmune diseases was negative. Magnetic resonance imaging spine findings of multiple T2 hyperintense lesions warranted a bone marrow examination, which confirmed the diagnosis of Ph+ B- ALL. Molecular analysis revealed a pathogenic heterozygous missense variant in the TP53 gene, leading to the diagnosis of Li-Fraumeni syndrome. This case highlights the importance of recognizing musculoskeletal symptoms as a potential presentation of ALL. Early consideration of leukaemia in the differential diagnosis can prevent delays in treatment, ultimately improving outcomes.

#2

A cartilage-targeted IGF-1-antibody fusion protein as a new therapeutic approach for IGF-1 deficiency.

Molecular therapy : the journal of the American Society of Gene Therapy2026 Mar 24

Growth hormone (GH) insensitivity syndrome (GHIS) is a childhood growth disorder characterized by an inability to generate insulin-like growth factor-1 (IGF-1) in response to GH. Consequently, GH therapy is ineffective in patients with GHIS. Patients are often treated with recombinant IGF-1 instead, which requires twice daily injections and is associated with adverse effects including hypoglycemia. In the current study, we evaluated CV1623-1, a cartilage-targeted antibody-like IGF-1 fusion protein as a potential new treatment for GHIS and for other disorders of linear growth involving IGF-1 deficiency. Using Ghrhrlit mice as a model for IGF-1 deficiency, we found that CV1623-1 stimulated the growth plate at a lower dose and decreased dose frequency than IGF-1. Alternate day injections of CV1623-1 significantly increased body weight, tail length and tibial bone length. In addition, CV1623-1, unlike IGF-1, did not induce hypoglycemia. Taken together, our findings indicate that CV1623-1 represents a promising new drug candidate for GHIS with improved efficacy, longer duration of action, and reduced hypoglycemia compared to the current treatment, recombinant IGF-1. Preclinical studies and clinical trials would be required to further validate the safety and efficacy of CV1623-1, paving the way for its potential clinical application as a new treatment for GHIS.

#3

From childhood malnutrition to adult mental illness: COVID-19 and the hidden legacy of malnutrition.

BMJ global health2026 Mar 24

The impact of stunting, thinness and obesity on depression and anxiety during challenging times, such as COVID-19, has not been adequately explored. This study aimed to estimate these relationships using longitudinal data from the four countries: Ethiopia, India, Peru and Vietnam. We conducted an analysis using data from the Younger Cohort of the Young Lives study, which tracked 8000 children from 2002 to 2021. The first five rounds of the study assessed nutrition (stunting, thinness and obesity). The sixth round evaluated outcomes at three different time points. For the analyses, we employed a random effects ordered logistic regression model. During the COVID-19 pandemic, experiencing stunting in a previous assessment round was associated with higher levels of depression (OR=1.34, p=0.025). Each additional year of stunting duration was linked to a greater severity of depression (OR=1.08, p=0.018). Additionally, longer durations of thinness were associated with an 11% increased risk of depression (OR=1.11, p=0.021). Meanwhile, experiencing stunting at least once over the five assessment rounds and the duration of stunting showed a weaker association with anxiety (OR=1.18, p=0.090) and (OR=1.06, p=0.065), respectively. Stunting and thinness are linked to increased rates of depression and anxiety during the COVID-19 pandemic. These findings highlight the importance of ongoing health investments and the need to incorporate child nutrition programmes into disaster preparedness plans to address the long-term effects of malnutrition.

#4

Efficacy of heparin in respiratory support of near-term rabbits with meconium-induced acute lung injury: Linear regression model analyses.

PloS one2026

To explore the pharmacotherapeutic efficacy of heparin in the management of meconium-induced acute lung injury (ALI) in near-term newborn rabbits subjected to mechanical ventilation (MV) and ancillary respiratory medications. Newborn rabbits at 30-day gestation (term 31 days) were anesthetized, intratracheally intubated and received human meconium-saline suspension, followed by parallel MV with individually adjusted tidal volume in a multi-plethysmograph-ventilator system. When ALI was induced after initial 3-h MV, therapeutic effects of single or combined subcutaneous heparin (100 U/kg), surfactant (200 mg/kg), and inhaled nitric oxide (iNO, 10 ppm), were compared for lung protective ventilation and survival as outcome, analyzed with linear regression models. Significantly reduced respiratory compliance by meconium was reinstalled during ensuing 7-h MV, with improved survival, among the treatment groups. The impact was verified by lung injury severity, surfactant phospholipid pools, and multiple mRNA expressions of surfactant proteins, lung fluid clearance-related factors, inflammatory mediators, growth factors, endothelial cell injury and coagulation-related factors as subphenotyping biomarkers. The overall benefits of heparin alone, or exerted with the dual and triple regimens, were discernible by both generalized linear model and Cox proportional hazard ratio regression for survival and other major variables as outcome. Its adverse effects were intangible. The comparable efficacy of heparin, alongside the PS and NO, was corroborated in attenuating meconium-mediated, ventilator-induced ALI, which should warrant clinical investigation to validate.

#5

Psychological Factors Predict Response to a Low Fermentable Oligo-, di-, Monosaccharide and Polyol Dietary Intervention in Irritable Bowel Syndrome: A Prospective Cohort Study.

United European gastroenterology journal2026 Apr

The low fermentable oligo-, di-, monosaccharide and polyol (FODMAP) diet (LFD) effectively manages irritable bowel syndrome (IBS), but predictors of treatment response remain unknown. This study investigated whether psychological factors predict symptom improvement and quality of life (QoL) outcomes following a LFD intervention. Adults with Rome IV-defined IBS underwent a three-phase LFD over 6 months. Primary outcomes were IBS symptom severity and QoL. Validated questionnaires assessed depressive, gastrointestinal-specific anxiety (GSA), and somatic symptoms, illness perceptions, and treatment expectations. Latent class growth analysis (LCGA) and cross-lagged panel models (CLPM) were used to identify symptom trajectories and examine directional relationships between psychological factors and outcomes, respectively. 112 participants (89% female, median age 30 ± 17 years) completed the study. LCGA identified distinct IBS symptom severity and QoL trajectories during the LFD. Higher baseline treatment credibility and expectancy predicted favourable symptom improvements but were unrelated to membership in the QoL trajectory. Elevated GSA, psychological distress (depression, anxiety, stress), and negative illness perceptions increased the likelihood of poorer outcomes. CLPM revealed that lower GSA and higher personal control preceded subsequent symptom reductions. Higher treatment expectancy predicted improved QoL and symptom outcomes over time, while QoL improvements reduced stress and GSA. Lower baseline GSA anxiety and higher treatment expectations consistently predict better response to all phases of the LFD. These findings will help clinicians identify optimal candidates for dietary intervention versus alternative treatments.

Publicações recentes

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📚 EuropePMCmostrando 198

2026

SARS-CoV-2 spike S1-mediated HIF-2α activation in retinal endothelial cells suggests a mechanism contributing to post-COVID endothelial dysfunction.

Frontiers in immunology
2026

Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey.

Molecular syndromology
2026

Back pain in an adolescent: not just a sore spine!

Ecancermedicalscience
2026

A cartilage-targeted IGF-1-antibody fusion protein as a new therapeutic approach for IGF-1 deficiency.

Molecular therapy : the journal of the American Society of Gene Therapy
2026

From childhood malnutrition to adult mental illness: COVID-19 and the hidden legacy of malnutrition.

BMJ global health
2026

Diagnoses Live in Relationships: Bedside Sense in the Age of Precision Medicine.

Annals of family medicine
2026

Efficacy of heparin in respiratory support of near-term rabbits with meconium-induced acute lung injury: Linear regression model analyses.

PloS one
2026

Psychological Factors Predict Response to a Low Fermentable Oligo-, di-, Monosaccharide and Polyol Dietary Intervention in Irritable Bowel Syndrome: A Prospective Cohort Study.

United European gastroenterology journal
2026

Respiratory Syncytial Virus Infection Triggering a Pulmonary Hypertensive Crisis in a Boy With Prader-Willi Syndrome-Associated Sleep-Disordered Breathing.

Cureus
2026

Enhanced P-TEFb activity compromises dentate gyrus neurogenesis in mice.

The EMBO journal
2026

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

Journal of molecular histology
2026

Overexpression of the TGF-β target CCN2 in megakaryocytes: a common feature of MDS with mutated SF3B1 : Uncovering novelinsights into the bone marrow microenvironment in MDS.

Virchows Archiv : an international journal of pathology
2026

Epidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.

Journal of obesity & metabolic syndrome
2026

A WHO global research priority agenda for wasting and nutritional oedema in infants and children under 5 years.

BMJ global health
2026

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Congenital anomalies
2026

Front-line systemic treatment outcomes in POEMS syndrome.

British journal of haematology
2026

Growth Guidance Surgery: Factors Associated With Complications.

Spine
2026

Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.

PloS one
2026

Impact of Prematurity on Metabolic Maturation.

Journal of proteome research
2026

Network pharmacology analysis of integration of dietary plant-derived natural flavonoids and gut microbiota for the treatment of Polycystic Ovary syndrome (PCOS).

Artificial cells, nanomedicine, and biotechnology
2026

Multimodal Functional Imaging in Tumor-induced Osteomalacia: 68Ga-DOTATATE, 18F-FDG, and 68Ga-FAPI PET/CT Findings.

Molecular imaging and radionuclide therapy
2026

Atypical Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes (POEMS) Syndrome.

Cureus
2026

Role of Growth Hormone and Insulin-Like Growth Factor-1 in Modulating Disease Severity in Children with COVID-19 and Multisystem Inflammatory Syndrome.

Infection and drug resistance
2026

Comparison of craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome patients with class II and class III malocclusions: a retrospective cross-sectional study.

Frontiers in pediatrics
2026

Low or Low-Normal Insulin-Like Growth Factor 1 After Traumatic Brain Injury: Interpretation and Implications.

Journal of neurotrauma
2026

A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.

American journal of medical genetics. Part A
2026

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

The American journal of pathology
2026

Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.

Annales d'endocrinologie
2026

Characterization of a natural recombinant fowl adenovirus of serotypes 8a and 8b.

Poultry science
2026

Trichosanthes pericarpium water fraction prevents myocardial cells from apoptosis induced by ox-LDL via increasing its sensitivity to FGF21.

Current pharmaceutical biotechnology
2026

Psychological Recovery of "Second Victims" After Adverse Events: Experiences From Generation Z Emergency Nurses.

Journal of nursing management
2026

A High-Potency Protein That Normalizes Body Weight in DIO Mice through Triple Agonism at FGF21, GLP1, and GIP Receptors.

Biochemistry
2026

Pooled prevalence and co-occurrence of diarrhea and wasting and its associated factors among children aged 6-24 months in East Africa: Insight from recent demographic health survey: A multilevel analysis.

PloS one
2026

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Genetics in medicine : official journal of the American College of Medical Genetics
2026

The evaluation of plozasiran for the treatment of familial chylomicronemia syndrome.

Expert review of endocrinology & metabolism
2026

Treatment with CernitinTM of induced urinary bladder inflammation downregulates relevant pro-inflammatory biomarkers - an experimental in vivo rodent model.

Scandinavian journal of urology
2026

Global, Regional, and National Burden of Adolescent Polycystic Ovary Syndrome from 1990 to 2021, with Projections of Disease Burden to 2041: A Systematic Analysis Based on the Global Burden of Disease Study 2021.

International journal of women's health
2026

Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.

Frontiers in immunology
2026

Understanding the impact of growth hormone on ventilatory control stability in children with Prader-Willi syndrome.

European journal of pediatrics
2026

Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.

Cell death and differentiation
2026

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Journal of addiction medicine
2026

Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome.

Journal of medical genetics
2026

Physical activity patterns and chronic kidney disease risk: a 5-year study in stage 1 cardiovascular-kidney-metabolic syndrome.

Annals of physical and rehabilitation medicine
2026

A genetically stable GFP reporter virus platform for contemporary Chinese PRRSV-1 and its use in fluorescence neutralization testing.

Virology
2026

Characterization of a unique phosphopantetheinyl transferase (PPTase) in the fish pathogen Pseudomonas plecoglossicida.

PloS one
2026

A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review.

Frontiers in neuroscience
2026

Preoperative inflammatory profile in chronic coronary syndrome reveals interleukin-2 as a promising biomarker for postoperative atrial fibrillation risk stratification.

International journal of cardiology. Heart & vasculature
2026

Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.

Frontiers in immunology
2026

Accelerated early weight gain of neonatal puppies from overweight bitches compared to lean dams in spite of similar milk macronutrient composition.

Frontiers in nutrition
2026

Inhibition of N-Terminal Acetyltransferase C Mitigates Endoplasmic Reticulum Stress-Mediated Muscle Atrophy in Cancer Cachexia.

Journal of cachexia, sarcopenia and muscle
2026

Circadian syndrome (CircS) and cognitive trajectory deterioration in middle-aged and older adults: A national cohort study with causal forest analysis.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2026

Danggui Buxue decoction ameliorates blood deficiency syndrome by suppressing IL-6/JAK2/STAT3 signaling pathway: An integrated Chinmedomics and bioinformatics study.

Journal of ethnopharmacology
2026

Reliability and validity of a wall slide test for monitoring growth-related lower limb pain in elite youth footballers.

Physical therapy in sport : official journal of the Association of Chartered Physiotherapists in Sports Medicine
2026

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.

Protein science : a publication of the Protein Society
2026

Short Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association.

Journal of clinical research in pediatric endocrinology
2026

Effects of early vs. late administration of labetalol on maternal cerebral perfusion and fetal growth in severe pre-eclampsia.

Frontiers in medicine
2026

Massive hemoptysis in mycobacterium abscessus lung disease: Interventional management with bronchial artery embolization.

IDCases
2026

Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

Cureus
2026

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

Journal of pediatric endocrinology & metabolism : JPEM
2026

Expanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001-2023).

British journal of haematology
2026

Angiogenic imbalance and endothelial dysfunction in the placenta in antiphospholipid syndrome.

Autoimmunity reviews
2026

Calcium supplementation for prevention of pre-eclampsia in high-risk women: study protocol for a randomised triple-blind placebo-controlled trial (CaPE).

Trials
2026

Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.

Human genome variation
2026

Pituitary Magnetic Resonance Imaging as a Prognostic Factor of Pituitary Insufficiency-The Follow-Up Analysis of a Cohort of Children With Pituitary Stalk Interruption Syndrome.

Clinical endocrinology
2026

Bone age advancement in non-obese children with premature adrenarche: relationship to growth acceleration and predicted adult height outcomes.

Journal of pediatric endocrinology & metabolism : JPEM
2026

Thymic epithelial tumors at the crossroads of immunity, autoimmunity, and immunotherapy.

Cancer immunology, immunotherapy : CII
2026

Emerging Urinary Biomarkers for Diagnosis, Phenotyping, and Treatment Monitoring in Female Overactive Bladder: A Systematic Review.

International urogynecology journal
2026

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Journal of pediatric endocrinology & metabolism : JPEM
2026

Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.

Puerto Rico health sciences journal
2026

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Journal, genetic engineering & biotechnology
2026

Matrix metalloproteinase-3 (MMP3) in non-syndromic cleft lip and palate: extracellular matrix remodeling, developmental signaling, and molecular mechanisms.

Biochemical and biophysical research communications
2026

A 53-Year-Old Male Smoker With Advanced Oral Squamous Cell Carcinoma Associated With Paraneoplastic Leukemoid Reaction.

The American journal of case reports
2026

Genome Sequencing and Genome-Wide Analysis Uncover Candidate Genes and Loci Linked to Key Production Traits in the Philippine Black Tiger Shrimp (Penaeus monodon).

Animal genetics
2026

The effectiveness of digital health interventions on anthropometric and healthy behavior in women with polycystic ovarian syndrome: a systematic review with meta-analysis.

Frontiers in endocrinology
2026

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.

Journal of surgical case reports
2026

Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction.

Frontiers in genetics
2026

Iron Deficiency Anemia Among Pediatric Celiac Disease Patients at the Armed Forces Hospital Southern Region: Prevalence, Predictors, and Outcomes.

Cureus
2026

Posterior Vitreous Detachment Determines the Clinical Impact of Fibrovascular Membrane Fibrosis After Anti-VEGF Treatment in Proliferative Diabetic Retinopathy: A Real-World Study.

Clinical ophthalmology (Auckland, N.Z.)
2025

Neurogenetics and Epigenetics of Spirituality and Religion: Seeking Genospirituality Via the Lens of Hierarchical Neuro-Spiritual Model (HNSM).

Neurology (E-Cronicon)
2026

[Use of human umbilical cord acellular matrix for soft tissue defects in patient with diabetic foot syndrome (case report)].

Problemy endokrinologii
2026

Shared genetic architecture between sleep traits and cardiometabolic diseases.

EBioMedicine
2026

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2025

Comparative Effects of 16:8 Intermittent Fasting and Continuous Caloric Restriction on Metabolic Syndrome Components in obese Women: A Non-randomized Controlled Clinical Trial.

La Tunisie medicale
2026

Chronic High-Carbohydrate And High-Fat Diet-Induced Metabolic Syndrome Leads To Adrenal Dysfunction, Altered Dendritic Morphology In Limbic Regions, And Anxiety-Like Behaviors In Male Rats.

Journal of molecular neuroscience : MN
2026

An oncogenic, truncated FGFR1 variant cooperates with SPFQ/NONO to regulate gene transcription in FGFR1-driven leukaemia.

British journal of haematology
2026

METTL3-m6A Promotes FFAR4 Levels in Patients with Endocrine Dysfunctional Osteoporosis Syndrome.

Combinatorial chemistry & high throughput screening
2026

Machine Learning Assessment of the Environmental Factors Contributing to Shade Adaptation in Brassica juncea.

Plants (Basel, Switzerland)
2026

Treatment of Feline Lung-Digit Syndrome with Toceranib Phosphate: Prolonged Survival and Novel Metastatic Findings.

Animals : an open access journal from MDPI
2026

Neurotrophin and Adipokine Signatures Associated with Visceral Adiposity-Driven Cardiometabolic and Endocrine Risk in Polycystic Ovary Syndrome.

International journal of molecular sciences
2026

Melatonin as a Redox Modulator in Developmental Programming: Implications for Cardiovascular-Kidney-Metabolic Risk.

International journal of molecular sciences
2026

Extracellular Vesicle Protein and MiRNA Signatures as Biomarkers for Post-Infectious ME/CFS Patients.

International journal of molecular sciences
2026

Intramuscular Myxoma: Results from the Largest European Single-Center Study-Clinical and Pathological Findings and Syndromal Associations.

Diagnostics (Basel, Switzerland)
2026

Trametinib and Fimepinostat Induce Malignant Peripheral Nerve Sheath Tumor Cell Death In Vitro.

Cancers
2026

Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.

American journal of medical genetics. Part A
2026

Disseminated Mycobacterium tilburgii infection complicated by pulmonary non-tuberculosis mycobacteriosis in a patient with acquired immunodeficiency syndrome: A case report and literature review.

Medicine
2026

Short bowel syndrome-associated intestinal failure: diagnosis and prognosis.

Expert review of gastroenterology & hepatology
2026

Adaptive Mechanisms of White-Flowered Alfalfa (Medicago sativa L.) in High-Altitude Cold and Saline-Alkali Environments.

Biology
2026

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Venetoclax in Pediatric and Young Adult Patients With Relapsed/Refractory Solid Tumors: Results of a Phase 1 Study.

Pediatric blood & cancer
2026

Fibronectin 1 is required for suture patency and dysregulated across craniosynostosis models in the mouse.

bioRxiv : the preprint server for biology
2026

Single-center experience with pediatric short bowel syndrome: clinical outcomes based on etiology and anatomical type in a retrospective cohort study.

Annals of surgical treatment and research
2026

Rapunzel Syndrome in a Child With Sensory Feeding Difficulties and Attention-Deficit Hyperactivity Disorder.

Cureus
2026

Neonatal Bradypnea as an Under-Recognized Manifestation of Prader-Willi Syndrome: A Case Report.

Cureus
2026

Description of the novel variant c.784delG;p. (Ala262Profs*68) at BSND gene and its association with Bartter Syndrome Type Iva.

Biomedical reports
2026

[A case of antiphospholipid syndrome complicated with hyperhomocysteinemia presenting initially with central retinal vein occlusion in a young male].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2026

Parvovirus B19 Infection in Pregnancy: Perinatal Outcomes Derived from a Systematic Review and Meta-Analysis.

American journal of obstetrics and gynecology
2026

Terminology of pleural artifacts in ultrasound: a Tower of Babel.

Insights into imaging
2026

Upper arch expansion and spontaneous upper first molar distorotation with Ni-Ti leaf springs and rapid maxillary expander compared to clear aligners : A randomized controlled trial.

Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie
2026

IGFBP5 Restores Endometrial Receptivity and Rescues Implantation Failure in Polycystic Ovary Syndrome.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Body roundness index outperforms traditional obesity metrics in predicting cardiometabolic risk among children and adolescents: the EMSNGS study.

Frontiers in nutrition
2026

A randomized control trial comparing the clinical outcome of thyroxine supplementation in thyroid peroxide antibody- negative cases in patients with subclinical hypothyroidism in pregnancy.

Journal of family medicine and primary care
2026

Diagnosis and management of mirror syndrome: a case series with emphasis on the potential role of the sFLT-1/PlGF ratio in clinical practice.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia
2026

[Analysis of stimulating factors for serum copeptin based on liquid chromatography-tandem mass spectrometry].

Se pu = Chinese journal of chromatography
2026

[Study on mechanism of Jiedu Huxin Formula protecting against heart failure caused by hypertension by regulating TGF-β1/p38 MAPK/NF-κB pathway based on network pharmacology and experimental validation].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Integrated serum pharmacochemistry and network pharmacology reveal the mechanisms of Baoyuan decoction formula granules against spleen deficiency syndrome.

Fitoterapia
2026

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

European journal of pediatrics
2025

[Advance in research on MIRAGE syndrome].

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

[Genetic analysis of a Chinese pedigree affected with Isolated growth hormone deficiency due to variant of CHRHR gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

A single-armed pilot study to evaluate a psychosocial intervention for young people who have experienced a burn injury: The Wellbeing Study.

Journal of burn care & research : official publication of the American Burn Association
2026

Distinct polyp recurrence timing and STK11 mutation status underlie clinical heterogeneity in pediatric Peutz-Jeghers syndrome.

Journal of pediatric gastroenterology and nutrition
2026

Qu-Shi-Jie-Du Decoction for Prevention of Recurrence and Metastasis in High-Risk Stage II/III Colon Cancer: Study Protocol for a Double-Blind, Randomized, Placebo-Controlled Trial.

Integrative cancer therapies
2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

medRxiv : the preprint server for health sciences
2026

Clear Cell Foci as Precursors of Hepatocyte Nuclear Factor 1-alpha-inactivated Hepatocellular Adenoma in a Metabolic Syndrome Mouse Model.

Acta histochemica et cytochemica
2026

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.

Translational pediatrics
2026

Combined Treatment with Shuyu Pills and Everolimus Suppresses Triple-Negative Breast Cancer Growth via the PI3K/AKT/mTOR Pathway.

Breast cancer (Dove Medical Press)
2026

Seat Belt Aorta in a Paediatric Patient: Conservative Management with Eight Year Follow Up to Adulthood.

EJVES vascular forum
2026

A Prospective-Retrospective Observational Cohort Study of Short-Term Health Outcomes of Preterm Very Low Birth Weight Infants Receiving Oropharyngeal Administration of Own Mother's Colostrum.

Current therapeutic research, clinical and experimental
2026

Dynamics of salivary stress-related biomarkers in children with malocclusion and risk for sleep problems and sleep-disordered breathing: a cross-sectional study.

European journal of orthodontics
2026

Rapid and Efficient Aerosol Delivery During 60 L/min High Flow Nasal Cannula Therapy-In Vitro Development of a Novel Dry Powder Delivery Platform.

AAPS PharmSciTech
2026

Engineered CAR-T-Derived Exosomes Co-Delivering miR-145 and Cytotoxic Proteins for Targeted Solid Tumour Therapy.

Journal of extracellular vesicles
2026

Microbiome-assisted plant breeding: integrating host-microbiome interactions into crop improvement.

Archives of microbiology
2026

Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.

Climacteric : the journal of the International Menopause Society
2026

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.

American journal of medical genetics. Part A
2026

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.

American journal of medical genetics. Part A
2026

Early pregnancy biomarkers of inflammation and metabolic regulation in polycystic ovary syndrome.

The Journal of clinical endocrinology and metabolism
2026

Is GDF15 or PGC-1α involved in 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD)-induced wasting syndrome? Evidence from a TCDD-sensitive and a TCDD-resistant rat strain.

Toxicology mechanisms and methods
2026

Modulation of tocotrienol's bone effects by osteocytes: a perspective.

Frontiers in pharmacology
2026

Emodin inhibits breast tumorigenesis in the comorbidity of hyperlipidemia and associated with IL-17 suppression.

Biochemistry and biophysics reports
2026

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Frontiers in endocrinology
2026

A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.

Clinical case reports
2026

Resource Availability Modulates Gene Expression Across Life Stages in a Migratory Butterfly.

Molecular ecology
2026

Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

Environment international
2026

Microneedle-based delivery of cell membrane vesicles as IL-17RA decoys for Psoriasis treatment.

Journal of nanobiotechnology
2026

OSGEP-Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal Trajectories.

QJM : monthly journal of the Association of Physicians
2026

PINCH proteins orchestrate vascular mural cell homeostasis through integrated signaling and transcriptional networks.

Angiogenesis
2026

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

European journal of pediatrics
2026

BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.

American journal of medical genetics. Part A
2026

Interplay of probiotics, prebiotics, synbiotics and postbiotics: a review of their therapeutic potential for gastrointestinal inflammation.

Food research international (Ottawa, Ont.)
2026

Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.

Clinical genetics
2026

Choroidal neovascularization secondary to punctate inner choroidopathy after resolution of multiple evanescent white dot syndrome: A case report.

Medicine
2026

Trehalose: A Promising Therapeutic Agent for Diverse Pathological Conditions.

Current medical science
2026

Neurocognitive outcomes in children with craniosynostosis after surgical correction: a narrative review.

Annals of medicine and surgery (2012)
2026

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Frontiers in neurology
2026

Natural history of large adrenal tumors.

Frontiers in endocrinology
2026

Evolution of calyx diversity in angiosperms: a focus on transcriptomic repatterning mechanisms underlying inflated fruiting calyx within Solanaceae.

The Plant journal : for cell and molecular biology
2026

HaloTag-based approach to quantify subcellular localization of TRPV3 channels.

Biophysical journal
2026

Anesthetic management of a patient with McCune-Albright syndrome complicated by pathological cervical fracture: a case report.

BMC anesthesiology
2026

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.

BMJ case reports
2026

Stable expression of Interleukin-18 in a live-attenuated PRRSV backbone confers safe and potent immune protection in pigs.

International journal of biological macromolecules
2026

Argon laser therapy for primary type 1 pterygium management, a randomized control trial: Six months follow up.

Archivos de la Sociedad Espanola de Oftalmologia
2026

Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University
2026

Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.

Disease models & mechanisms
2025

Expression of TGFB1 and ERK in cumulus cells: Implications for oocyte maturation in women with polycystic ovary syndrome: A cross-sectional study.

International journal of reproductive biomedicine
2025

Comparison of frozen embryo transfer outcomes in hormonal vs. mild stimulation protocols in polycystic ovary syndrome women: A randomized controlled trial.

International journal of reproductive biomedicine
2026

JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities.

International journal of oral science
2026

Dendrobium officinale inhibits colorectal cancer progression by induction of glutathione peroxidase 4-mediated ferroptosis.

Chinese journal of natural medicines
2026

Two-Step Clinical Pathways to Cardiovascular Mortality in Chronic Kidney Disease and Dialysis -- A Narrative Review.

Journal of atherosclerosis and thrombosis
2026

SPIN4-related X-linked overgrowth in a family.

European journal of medical genetics
2026

Study on the anti-pulmonary fibrosis mechanism of Renshen Pingfei formula by inhibiting M2 macrophage polarization and regulating TGF - β/SMAD signaling pathway.

Journal of ethnopharmacology
2026

The S100A8/A9 complex promotes food intake and prevents adipose tissue loss during cancer cachexia in mice.

Cell metabolism
2026

Targeting non-canonical NF-κB signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha.

The British journal of dermatology
2026

Difficulties in diagnosing a pediatric patient with small intestinal bacterial overgrowth.

Einstein (Sao Paulo, Brazil)
2026

Exploring the role of TWIST1 in malocclusion and craniofacial morphology.

Frontiers in physiology
2026

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Frontiers in cardiovascular medicine
2026

Global Research Trends in Dietary Polyphenols for Preventing Non-Communicable Chronic Diseases: A Bibliometric Study.

Food science & nutrition
2026

Adalimumab in the management of refractory idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome: a case report and literature review.

BMC ophthalmology
2026

Microglandular adenosis, triple negative breast carcinoma and DNA repair defects.

Journal of clinical pathology
2026

SlBBX20 is a regulator of plant development in response to shade in tomato.

Plant physiology and biochemistry : PPB
2026

Endothelial dysfunction in APS: advancing pathophysiological understanding to improve management.

Current opinion in immunology
2026

Once-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.

European journal of endocrinology
2026

Scoliosis in Escobar Syndrome: Retrospective Review of Surgical Outcomes, Risks, and Radiographic Patterns.

Journal of pediatric orthopedics
2026

Estrogen deficiency and risk of hearing loss in pediatric Turner syndrome.

The Journal of clinical investigation
2026

Bridging the gap: Prevotella/Segatella's impact on gut barrier function and advanced cultivation strategies to realize the uses in gut health.

Gut microbes
2026

Effects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.

PloS one
2026

Comparison of preoperative and intraoperative cultures for predicting postoperative urinary tract infections following supine PCNL.

World journal of urology
2026

Increased fibroblast growth factor 21 is associated with metabolic syndrome in chronic spinal cord injury: A cross-sectional study.

The journal of spinal cord medicine
2026

Pathophysiology of androgen-associated endothelial cell dysfunction in phenotype A polycystic ovarian syndrome revealed by iPSCs modeling.

Frontiers in endocrinology
2026

[Analysis of maternal and fetal outcomes and related factors of recurrence in women with a history of pre-eclampsia].

Zhonghua fu chan ke za zhi
2026

Neurotoxicity of acrylamide in wild-type and TNF-α depletion mice: possible alternative role of IL-6 and dipolar effects of TNF-α depletion on oxidative stress pathway.

The Journal of toxicological sciences
2026

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.

Mitochondrion
2026

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

Injury
2026

DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.

Cancer genetics
2026

Probiotic efficacy of Bacillus amyloliquefaciens TL106 from Tibetan pigs in metabolic syndrome: modulation of gut microbiota and metabolic in sows and suckling piglets.

Microbiome
2026

Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.

Cell death & disease
2026

Early abstinence in severe alcohol use disorder: MCP-1 decline, choroid plexus shrinkage, and region-specific grey-matter volume changes.

Translational psychiatry
2026

A Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines.

Biology of the cell
2026

Cytokines and growth factors produced and released by human eosinophils: lessons from cocultures and omics studies.

Journal of leukocyte biology
2026

Activity of Ponatinib and Vitamin K2 Against Myelodysplastic Syndrome and Acute Myeloid Leukemia Cells.

Anticancer research

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. Back pain in an adolescent: not just a sore spine!
    Ecancermedicalscience· 2026· PMID 41877742mais citado
  2. A cartilage-targeted IGF-1-antibody fusion protein as a new therapeutic approach for IGF-1 deficiency.
    Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41877483mais citado
  3. From childhood malnutrition to adult mental illness: COVID-19 and the hidden legacy of malnutrition.
    BMJ global health· 2026· PMID 41876141mais citado
  4. Efficacy of heparin in respiratory support of near-term rabbits with meconium-induced acute lung injury: Linear regression model analyses.
    PloS one· 2026· PMID 41875186mais citado
  5. Psychological Factors Predict Response to a Low Fermentable Oligo-, di-, Monosaccharide and Polyol Dietary Intervention in Irritable Bowel Syndrome: A Prospective Cohort Study.
    United European gastroenterology journal· 2026· PMID 41874426mais citado
  6. Right ventricular function in pulmonary hypertension and obesity: a cross-sectional cohort study with survival follow-up.
    Clin Res Cardiol· 2026· PMID 40553152recente
  7. The de novo FAIRification process of a registry for vascular anomalies.
    Orphanet J Rare Dis· 2021· PMID 34481493recente
  8. Improving the analysis of composite endpoints in rare disease trials.
    Orphanet J Rare Dis· 2018· PMID 29788976recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2055(Orphanet)
  2. OMIM OMIM:609640(OMIM)
  3. MONDO:0012324(MONDO)
  4. Busca completa no PubMed(PubMed)
  5. Q55783684(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 atraso de crescimento-braquidactilia-dismorfia
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Síndrome de atraso de crescimento-braquidactilia-dismorfia

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