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Síndrome de macrocefalia-perturbação do desenvolvimento
ORPHA:397612CID-10 · Q75.3OMIM 615637DOENÇA RARA

A Síndrome de Macrocefalia e Atraso no Desenvolvimento é uma condição rara que causa deficiência intelectual. Ela se caracteriza por ter a cabeça maior que o normal (macrocefalia), traços físicos levemente incomuns (como testa mais saltada, rosto alongado, pálpebras caídas com olhos pequenos e inclinados para baixo, a parte de cima do nariz mais larga e queixo proeminente), um atraso geral no desenvolvimento neurológico, alterações de comportamento (por exemplo, ansiedade e movimentos repetitivos) e crises epilépticas, que podem ser de "ausência" (quando a pessoa se desliga por um breve momento) ou convulsões generalizadas (tônico-clônicas). Além disso, alguns pacientes podem apresentar outras características, como o fechamento precoce das junções dos ossos do crânio (craniossinostose), o dedo mindinho curvado, pneumonias que voltam várias vezes e o aumento do fígado e do baço (hepatoesplenomegalia).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome de Macrocefalia e Atraso no Desenvolvimento é uma condição rara que causa deficiência intelectual. Ela se caracteriza por ter a cabeça maior que o normal (macrocefalia), traços físicos levemente incomuns (como testa mais saltada, rosto alongado, pálpebras caídas com olhos pequenos e inclinados para baixo, a parte de cima do nariz mais larga e queixo proeminente), um atraso geral no desenvolvimento neurológico, alterações de comportamento (por exemplo, ansiedade e movimentos repetitivos) e crises epilépticas, que podem ser de "ausência" (quando a pessoa se desliga por um breve momento) ou convulsões generalizadas (tônico-clônicas). Além disso, alguns pacientes podem apresentar outras características, como o fechamento precoce das junções dos ossos do crânio (craniossinostose), o dedo mindinho curvado, pneumonias que voltam várias vezes e o aumento do fígado e do baço (hepatoesplenomegalia).

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
9
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: SP, PR, RS, ES, RJ +5CID-10: Q75.3
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
11 sintomas
😀
Face
8 sintomas
🦴
Ossos e articulações
3 sintomas
🫃
Digestivo
3 sintomas
🫁
Pulmão
1 sintomas
🫘
Rins
1 sintomas

+ 14 sintomas em outras categorias

Características mais comuns

100%prev.
Testa proeminente
Ocasional (29-5%)
100%prev.
Bossas frontais
Frequente (79-30%)
100%prev.
Palato ogival
Ocasional (29-5%)
100%prev.
Retrognatia
Frequência: 2/2
91%prev.
Atraso no desenvolvimento da fala e da linguagem
Frequente (79-30%)
91%prev.
Deficiência intelectual
Frequente (79-30%)
42sintomas
Muito frequente (8)
Frequente (15)
Ocasional (16)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 42 características clínicas mais associadas, ordenadas por frequência.

Testa proeminenteProminent forehead
Ocasional (29-5%)100%
Bossas frontaisFrontal bossing
Frequente (79-30%)100%
Palato ogivalHigh palate
Ocasional (29-5%)100%
RetrognatiaRetrognathia
Frequência: 2/2100%
Atraso no desenvolvimento da fala e da linguagemDelayed speech and language development
Frequente (79-30%)91%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026193 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

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

KPTNKICSTOR complex protein kaptinDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex

LOCALIZAÇÃO

Lysosome membraneCell projection, lamellipodiumCell projection, stereocilium

VIAS BIOLÓGICAS (1)
Amino acids regulate mTORC1
MECANISMO DE DOENÇA

Intellectual developmental disorder, autosomal recessive 41

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
41.7 TPM
Cérebro - Hemisfério cerebelar
39.8 TPM
Pituitária
22.1 TPM
Testículo
17.6 TPM
Próstata
17.3 TPM
OUTRAS DOENÇAS (1)
macrocephaly-developmental delay syndrome
HGNC:6404UniProt:Q9Y664

Variantes genéticas (ClinVar)

52 variantes patogênicas registradas no ClinVar.

🧬 KPTN: Single allele ()
🧬 KPTN: NM_007059.4(KPTN):c.599+1G>T ()
🧬 KPTN: NM_007059.4(KPTN):c.644_653dup (p.Leu219fs) ()
🧬 KPTN: NM_007059.4(KPTN):c.26C>T (p.Ala9Val) ()
🧬 KPTN: NM_007059.4(KPTN):c.999+1G>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 142 variantes classificadas pelo ClinVar.

43
28
71
Patogênica (30.3%)
VUS (19.7%)
Benigna (50.0%)
VARIANTES MAIS SIGNIFICATIVAS
KPTN: NM_007059.4(KPTN):c.599+1G>T [Pathogenic]
KPTN: NM_007059.4(KPTN):c.644_653dup (p.Leu219fs) [Pathogenic]
KPTN: NM_007059.4(KPTN):c.999+1G>T [Likely pathogenic]
KPTN: NM_007059.4(KPTN):c.777_783dup (p.Lys262fs) [Pathogenic]
KPTN: NM_007059.4(KPTN):c.309+1G>A [Likely pathogenic]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de macrocefalia-perturbação do desenvolvimento

Centros de Referência SUS

13 centros habilitados pelo SUS para Síndrome de macrocefalia-perturbação do desenvolvimento

Centros para Síndrome de macrocefalia-perturbação do desenvolvimento

Detalhes dos centros

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 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 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

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 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

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 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 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 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
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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

Frontiers in pediatrics2026

Post-Streptococcal glomerulonephritis (PSGN) most commonly follows streptococcal infections and presents with classic features such as hematuria, proteinuria, hypertension, and transient renal dysfunction. While renal-limited disease is typical, extrarenal manifestations-particularly serosal involvement-are exceptionally rare in children. We report a rare case of an adolescent who presented with nephritic syndrome marked by hypertension, gross hematuria, proteinuria, and notably, concurrent pleural and pericardial effusions. Laboratory evaluation revealed low serum complement levels (C3 and C4), consistent with immune complex-mediated glomerulonephritis. Extensive infectious and autoimmune workups were unremarkable. The patient was managed conservatively with antihypertensives and diuretics, with complete resolution of symptoms and normalization of renal function and complement levels within four weeks. To our knowledge, serosal involvement (pleural and pericardial effusions) at initial presentation in pediatric PSGN remains extremely rare, with very few documented cases in the literature. This report contributes valuable clinical insight, emphasizing that PSGN can occasionally mimic systemic inflammatory or autoimmune conditions. Early identification and conservative management can prevent overtreatment and improve outcomes. This case underscores an unusual presentation of PSGN with serosal involvement-a manifestation reported only sporadically in literature. Recognition of such rare systemic features is crucial to avoid diagnostic delays or unnecessary immunosuppression. Supportive care alone led to favorable outcomes, reinforcing the self-limited nature of PSGN even in atypical presentations. It serves as a valuable reminder that atypical PSGN can present with multi-system inflammation, and a precise diagnostic approach integrating serology and clinical course is essential to avoid unnecessary intervention.

#2

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.

#3

Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.

European heart journal. Case reports2026 Mar

Abnormal origin of a coronary artery is a rare congenital condition that can significantly affect clinical outcomes especially when associated with acute coronary syndromes. Among these, the presence of a single coronary artery trifurcating from the right coronary cusp into all major coronary branches is exceptionally rare and poorly represented in the literature. A 35-year-old man presented with an inferior ST-elevation myocardial infarction. Emergency angiography revealed a single coronary artery arising from the right coronary cusp. The culprit was the right coronary artery. It was effectively treated with intravascular-guided percutaneous coronary intervention, and the remaining coronaries demonstrated normal flow, as shown in subsequent imaging. The patient recovered uneventfully, rehabilitated without complications. He was discharged on guideline directed medical therapy. Although the anomalous coronary anatomy was not the direct cause of infarction, it introduced significant procedural challenges that could have delayed or compromised revascularization. Our case highlights the importance of recognizing and anticipating coronary anomalies in acute settings. Multimodality imaging and anatomical classification systems help provide timely diagnosis, procedural planning, and risk assessment from a long-term perspective.

#4

Second allogeneic stem cell transplantation for XMEN disease.

BMJ case reports2026 Mar 23

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) disease is due to an inherited defect in immunity from loss-of-function mutations in the magnesium transporter 1 gene (MAGT1). Patients can present as adults with XMEN disease from a delayed diagnosis or lack of genetic diagnosis. Allogeneic stem-cell transplantation is curative in XMEN disease, but the mortality is high, especially in adults. Defective N-glycosylation of platelet glycoproteins impairs platelet aggregation and risks fatal mucosal haemorrhage (such as posterior epistaxis with airway obstruction and haemorrhagic shock requiring intubation) early during post-transplant aplasia. Maintaining a platelet level of at least 30×109/L until engraftment could avoid life-threatening haemorrhage. This is the first report of a successful second allogeneic stem-cell transplant in XMEN disease. Allogeneic stem-cell transplant in adults with XMEN disease should be considered as a curative option in patients with suitable donors.

#5

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

PloS one2026

Trophic feeding generally refers to providing small quantities of enteral feeding soon after birth. A study in Ethiopia highlighted substantial delays in starting therapeutic feeding (TF) for newborns. While guidelines recommend initiating TF within 24 hours of birth, an alarming 80-90% of infants did not begin feeding within 48 hours. Only 20% started TF within the advised timeframe. Furthermore, 29% of these infants did not survive until discharge, and 86.2% experienced extrauterine growth restriction. As a result, this study aims to assess the time to initiation of TF and its predictors among preterm neonates in the Tigray region. A prospective, institutional-based follow-up study was conducted on 193 preterm neonates admitted to the Neonatal Intensive Care Unit, with participants selected using systematic random sampling from a group of public hospitals.:The data collection period was from December 20, 2024, to February 30, 2025. Data was entered into Epi-Data version 4.7 and then exported to STATA version 14 for cleaning and analysis. To compare survival curves, Kaplan-Meier analysis and the log-rank test were used, bivariate and multivariate Cox regression analysis were used, all statistical tests were considered significant at a p-value of <0.05. A total of 193 neonates were followed for 8382 person-hours of risk time and 173 (89.6%) of neonates were initiated trophic feeding. The incidence rate of initiating trophic feeding was 2 per 100 person hours' observations with a median time of 45 hours (95% CI: 42-56). Birth weight <1500 gram (AHR: 0.16,95% CI:0.075-0.35), APGAR score at first minute < 7 (AHR: 0.46,95% CI:0.26-0.76),APGAR score at fifth minute < 7 (AHR: 0.38,95%CI:0.21-0.68, having respiratory distress syndrome (AHR: 0.41,95% CI:0.25-0.66, and absence of Kangaroo mother care (AHR: 0.41,95% CI:0.21-0.77), were statistically Significant associated factors for the delay of initiation of trophic feeding. In this study, a significant delay in the initiation time of trophic feeding. Therefore, health institutions should work on very low birth weight, APGAR scores below seven at one and five minutes, the presence of RDS, and the absence of KMC to shorten the initiation time and reduce complications associated with the delay.

Publicações recentes

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2026

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Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.

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

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Severe postpartum sepsis secondary to a deep vaginal hematoma: clinical and therapeutic aspects.

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

Ecancermedicalscience
2026

Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.

European heart journal. Case reports
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Neurodevelopmental and Psychiatric Outcomes in Pediatric Nonsyndromic Craniosynostosis: Insights for Plastic Surgery From a Retrospective Risk Analysis.

Annals of plastic surgery
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Intractable dialysis-associated headache: a management dilemma in pediatric hemodialysis.

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[Noninfectious uveitis in childhood : Clinical aspects, diagnostics, treatment and transition].

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

Journal of obesity &amp; metabolic syndrome
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Second allogeneic stem cell transplantation for XMEN disease.

BMJ case reports
2026

Targeted repair of a refractory ventral cerebrospinal fluid leak identified by dynamic computed tomography myelography: illustrative case.

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

PloS one
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GATA2 Deficiency Syndrome: A Case Series and Literature Review.

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A Retrospective Analysis of Dengue-associated Hemophagocytic Lymphohistiocytosis in a Dengue-endemic Country.

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When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.

Cureus
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Hypokalemic Periodic Paralysis: A Case Report of Acute Flaccid Quadriparesis Mimicking Guillain-Barré Syndrome.

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Late reconstruction of missed compartment syndrome after tibial plateau fixation surgery: A case report with 6 years of follow-up.

Orthopedic reviews
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Arterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.

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Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.

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The Hidden Perils of Allopurinol: A Systematic Review of Allopurinol-Induced DRESS (Drug Reaction With Eosinophilia and Systemic Symptoms) Syndrome.

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Nursing interventions and multidomain physiological trajectories in ARDS: a retrospective cohort study.

Frontiers in medicine
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Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

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Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences
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Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.

medRxiv : the preprint server for health sciences
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Recovery trajectories of TAFRO syndrome: a single-center case series highlighting prolonged thrombocytopenia and anasarca.

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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
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Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

American journal of medical genetics. Part A
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Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers.

Clinical pharmacology in drug development
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Primary cardiac angiosarcoma with isolated superior vena cava syndrome: a case report.

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Acute food protein-induced enterocolitis syndrome in Switzerland: a 10-year retrospective review.

European journal of pediatrics
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A diagnostic challenge: right-sided infective endocarditis presenting as isolated fatigue in a psychiatric patient.

International journal of emergency medicine
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A practical clinical approach to the diagnosis and management of morphea (localized scleroderma).

Best practice &amp; research. Clinical rheumatology
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Orthopedic Visits and Procedures Preceding Rheumatoid Arthritis Diagnosis: A Nationwide Case-Control Study.

Joint bone spine
2026

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome.

The Canadian journal of cardiology
2026

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

The American journal of pathology
2026

Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists.

Brain &amp; development
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A gated pathway for suspected urinary tract infection in dementia.

Diagnostic microbiology and infectious disease
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Exploring sleep health and circadian rhythm disruption in Sjögren's disease: an accelerometric and self-reported cross-sectional study.

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Generation of an induced pluripotent stem cell line from a long QT syndrome type 2 patient carrying the pathogenic KCNH2 c.1682C>T (p.Ala561Val) variant.

Stem cell research
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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
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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
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Body Under Attack: Disseminated Varicella-Zoster Virus Infection.

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Does age delay gastric emptying? Ultrasound reveals altered dynamics in the aged population.

Frontiers in medicine
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Diagnostic odyssey of patients with the rare immunodeficiency activated PI3 kinase delta syndrome (APDS): case study from expert and patient surveys.

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Beyond body mass index: visceral adiposity and metabolic alterations as early markers of atrial dysfunction and atrial fibrillation in midlife.

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Optimized RTX strategy plus structured glucocorticoid tapering for primary membranous nephropathy: a multicenter propensity score-matched cohort study.

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Secukinumab-Induced Delayed Behçet-Like Reaction in a Patient with Plaque Psoriasis: A Case Report.

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Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

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The Clinical Relevance of the Rectosigmoid Brake in Surgical Disorders and Therapies: A Systematic Review of Colonic Manometry Studies.

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Why Is Colorectal Cancer Occurring Earlier? Metabolic Dysfunction, Underrecognized Carcinogens, and Emerging Controversies.

Current obesity reports
2026

Non-pharmacological care in neonatal abstinence syndrome. Scoping review.

Journal of pediatric nursing
2026

Delayed fatal neurotoxicity in post CAR-T cell therapy for multiple myeloma, a case report.

Leukemia research reports
2026

Impact of healthcare-associated respiratory virus infections in children.

Infection prevention in practice
2026

Tuberculosis-Associated Hemophagocytic Syndrome Mimicking Malignant Lymphoma: A Case Report.

Cureus
2026

Variant Creutzfeldt-Jakob disease surveillance in Spain, 1993-2021.

Frontiers in public health
2026

Thigh Compartment Syndrome Following Physician-Modified Fenestrated Endograft Aneurysm Repair.

Ochsner journal
2026

Introduction of a video-based heterogeneity index for quantitative lung ultrasound assessment in neonates with respiratory distress - a proof-of-concept study.

Paediatric respiratory reviews
2026

Stable Pleural Effusion as a Diagnostic Pitfall in Meigs Syndrome: A Case of a Benign Brenner Tumor with Elevated CA125.

Internal medicine (Tokyo, Japan)
2026

Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.

JACC. Case reports
2026

Rupture of a Nonaneurysmal Left Sinus of Valsalva Into the Pericardium.

JACC. Case reports
2026

First report of malignant hyperthermia syndrome in an American Guinea hog.

The Canadian veterinary journal = La revue veterinaire canadienne
2026

Case Report: Expanded dengue syndrome with acute pancreatitis and pericardial effusion in octogenarians, from recovery to fatal shock.

Frontiers in medicine
2026

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

Human genome variation
2026

Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report.

Cerebellum (London, England)
2025

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

Andes pediatrica : revista Chilena de pediatria
2026

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

European journal of neurology
2026

Physiotherapist's Management of Suspected Cauda Equina Syndrome in the United Kingdom: A National Survey.

Physiotherapy research international : the journal for researchers and clinicians in physical therapy
2026

A Rare Cause of Neck Swelling: A Case Report and Review of Primary Pyomyositis of the Sternocleidomastoid.

Cureus
2026

Reproductive Effects of Combined PCOS Model and High-Fat Diet: Tracing Inheritance.

Reproduction (Cambridge, England)
2026

Retarded DNA DSB repair kinetics and augmented radiation sensitivity in Wiskott Aldrich syndrome patients.

Scientific reports
2026

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

Journal, genetic engineering &amp; biotechnology
2026

Aicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.

AJNR. American journal of neuroradiology
2026

Immunopathogenesis of lung lesions induced by the highly virulent Rosalía strain of PRRSV-1 circulating in Spain since 2020.

Veterinary journal (London, England : 1997)
2026

Guillain-Barré Syndrome in Pregnancy: A Systematic Review of Published Case Reports and Case Series with Obstetric and Neonatal Outcomes.

American journal of obstetrics &amp; gynecology MFM
2026

OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.

Neurogenetics
2026

Clinical and Therapeutic Strategies for West Syndrome in Low-Resource Settings: A 10-Year Experience From Cameroon.

Journal of paediatrics and child health
2026

A case of osteoporotic fracture leading to diagnosis of Klinefelter syndrome in a 76-year-old man.

JCEM case reports
2026

Trusting your gut: a hairy situation-gastric trichobezoar case report.

Frontiers in pediatrics
2026

An unusual presentation of portal biliopathy manifesting as chronic abdominal pain as a delayed post-splenectomy complication: a case report.

International journal of surgery case reports
2026

Type III abdominal cocoon syndrome presenting as mechanical small bowel obstruction: a rare pediatric case report.

International journal of surgery case reports
2026

Addressing complicated vesicovaginal fistula post-intercourse in MRKH: the critical imperative for comprehensive sex education and awareness.

Sexual medicine
2026

A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.

Case reports in neurology
2026

Acute post-infusion hypokalemia following rituximab therapy in patients with nephrotic syndrome: case series and literature review.

Frontiers in pharmacology
2026

Paraneoplastic Arthritis Mimicking Late-Onset Rheumatoid Arthritis in an Older Smoker: A Diagnostic Challenge.

Cureus
2026

Recurrent Cyclic Vomiting and Gastroparesis-Like Symptoms in a Patient With Mast Cell Activation Syndrome (MCAS): A Case of Gastrointestinal-Predominant MCAS.

Cureus
2026

Surgery for necrotizing acute pancreatitis: surgical approach, morbidity and challenges encountered: experience from a tertiary care hepatopancreatobiliary unit in Sri Lanka.

Frontiers in surgery
2026

Advances in the immunosuppression of porcine reproductive and respiratory syndrome virus.

Frontiers in veterinary science
2026

Establishment and field validation of a rapid on-site recombinase polymerase amplification-lateral flow assay for BRSV and BVDV.

Frontiers in veterinary science
2026

Clenched fist syndrome: unveiling a motor manifestation of schizophrenia-a case report.

Journal of medical case reports
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 &amp; 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
2026

Towards Ending HIV/AIDS by 2030: Trajectory of Sub-Saharan Africa-A Post-COVID-19 (2019-2024) Review.

Reviews in medical virology
2026

Delayed Recognition of Systemic Lupus Erythematosus Presenting With Visceral Muscle Dysmotility and Chronic Mucus-Bloody Enteropathy: A Case Report.

The American journal of case reports
2026

Bardet-Biedl syndrome in two sibling pairs: a case series.

Journal of medical case reports
2026

Potential Harm of the Use of the Word "Benign" in Gynecologic Care.

Journal of obstetric, gynecologic, and neonatal nursing : JOGNN
2026

Bursicon homodimers enhance the expression of innate immune genes and delay WSSV-induced mortality in Litopenaeusvannamei.

Fish &amp; shellfish immunology
2026

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

Animals : an open access journal from MDPI
2026

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

International journal of molecular sciences
2026

Label-Free Detection of Molecular Signatures in Heart Failure with Preserved Ejection Fraction Using Raman Micro-Spectroscopy.

International journal of molecular sciences
2026

Outpatient Versus Inpatient Administration of Ciltacabtagene Autoleucel in Multiple Myeloma: A Systematic Review of Clinical, Economic, and Humanistic Outcomes.

Cancers
2026

Behavioral-Gastrointestinal Interaction Between Night Eating Syndrome and GERD Among Saudi Adults: Implications for Clinical Screening and Lifestyle-Based Care.

Healthcare (Basel, Switzerland)
2026

Immediate Effect of Rigid Taping and Patella-Stabilizing Brace on Proprioception, Functionality, and Balance in Patients with Patellofemoral Pain Syndrome: A Randomised Controlled Trial.

Journal of clinical medicine
2026

The Effects of Physical Therapy in the Rehabilitation of Motor Delays in Children with Down Syndrome: A Systematic Review.

Journal of clinical medicine
2026

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

Stem cell research
2026

ReEnSta Alleviates Pain by Reducing Postoperative Swelling and Blood Stasis After Open Surgery.

The Journal of surgical research
2026

Diagnostic and discriminative value of inflammatory biomarkers in differentiating aortic aneurysm and dissection: A retrospective comparative study.

Medicine
2026

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

Cureus
2025

Replacing Bacitracin With Vancomycin in Adams Triple Antibiotic Solution for Irrigation in Breast Implant Reconstruction: A Retrospective Review of 277 Reconstructions.

Eplasty
2025

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

Eplasty
2026

A Diagnostic Pitfall: Carbamazepine-Induced Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Syndrome Masquerading As Angiotensin-Converting Enzyme Inhibitor Angioedema.

Cureus
2026

Missing the Forest for the Trees: Delayed Diagnosis and Management of Treatment Resistant Schizophrenia.

Psychopharmacology bulletin
2026

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

American journal of medical genetics. Part A
2026

Diagnosis and management of nutcracker syndrome: Nursing considerations and a review of current practice.

Journal of vascular nursing : official publication of the Society for Peripheral Vascular Nursing
2026

Predictive Value of Notched P Wave for Life-Threatening Arrhythmias in Patients with Brugada Syndrome: Insights from a Multicenter Prospective Study.

Heart rhythm
2026

MECP2-Associated Rett Syndrome Without Developmental Regression-A Case Series.

Journal of child neurology
2026

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Clinical dysmorphology
2026

Preventing ovarian aging: from redox-targeted strategies to extracellular vesicle-based therapies.

Frontiers in aging
2026

Misdiagnosis of superior sulcus tumours: a scoping review.

Journal of thoracic disease
2026

Staged Management of Delayed-Onset Upper Arm Compartment Syndrome Following Humeral Shaft Fracture: A Case Report.

Case reports in orthopedics
2026

Postoperative Functional Recovery After Carpal Tunnel Release: A Narrative Review on Exercise-Based Rehabilitation.

Cureus
2026

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.

Cureus
2026

[Medium- and long-term clinical efficacy of Jianpi Huogu (Kanggu) Formula in treatment of early-stage femoral head necrosis].

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

Unusual Synchronous Arbitrary-Gate Doppler Spectra Enable Intraoperative Hemodynamic Warning of Cerebral Hyperperfusion Syndrome on Moyamoya Disease.

CNS neuroscience &amp; therapeutics
2026

P-glycoprotein-mediated impairment of doxorubicin clearance in inflammatory bowel disorders: Mechanistic insights from rat studies and whole-body physiologically based pharmacokinetic modeling.

Drug metabolism and disposition: the biological fate of chemicals
2026

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.

American journal of medical genetics. Part A
2026

Genotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrome.

Journal of the American College of Cardiology
2025

[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].

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

[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].

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

[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].

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

[Neurogenic thoracic outlet syndrome: a rare diagnosis in the pediatric population].

Nederlands tijdschrift voor geneeskunde
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

Transforaminal endoscopic discectomy with temporary percutaneous pedicle screw fixation as a fusion-sparing approach for giant recurrent L4/5 disc herniation and iatrogenic pars fracture in a young female: a case report.

Journal of spine surgery (Hong Kong)
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

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

Translational pediatrics
2026

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Sultan Qaboos University medical journal
2026

Olfactory Groove Meningioma Presenting With Visual Decline and Gait Disturbance: A Case Report.

Cureus
2026

Open-Angle Glaucoma Presenting as Delayed-Onset Interface Fluid Syndrome in a Patient With Minimal Risk Factors.

Cureus
2026

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.

Cureus
2026

Advances in RT-PCR-Based Point-of-Care Systems for Rapid Detection of Dengue Virus Serotypes: A Narrative Review.

Journal of vector borne diseases
2026

QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.

Clinical and translational science
2025

Fertility preservation in patients with Turner syndrome: a SWOT analysis.

Reproductive biomedicine online
2026

Optimal duration between drainage for obstructing renal or ureteral stones associated with infection and ureteroscopic lithotripsy: a randomized controlled trial.

World journal of urology
2026

Success rates of a surgical neurectomy for lateral cutaneous nerve entrapment syndrome (LACNES).

Scandinavian journal of pain
2026

Linezolid-induced Posterior Reversible Encephalopathy Syndrome: A Case Report and Review of the Literature.

Clinical neuropharmacology
2026

Analytical and clinical evaluation of the Alinity m Resp-4-Plex assay in comparison to two singleplex SARS-CoV-2 assays and one multiplex respiratory assay.

Microbiology spectrum
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

Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.

Journal of child neurology
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

Evidence for Environment-Specific Pace-of-Life Syndromes.

Ecology and evolution
2026

Rethinking Thiamine in the Emergency Department: Why a Hi-Phy-Vi-Based "Suspect and Treat" Approach Matters in an Aging Society.

Cureus
2026

Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant.

Stem cell research
2026

Sex-Specific Associations Between Depression and Cardiovascular-Kidney-Metabolic Syndrome Progression: A National Cohort Study.

European journal of preventive cardiology
2026

Outpatient deformity correction: novel closed reduction technique transforms tibial trauma care.

International orthopaedics
2026

A systematic review and meta-analysis of Zika virus epidemiology.

Nature health
2026

Immediate and Gradual Withdrawal of Immunosuppression After Kidney Graft Loss Lead to Similar Outcomes.

Transplant international : official journal of the European Society for Organ Transplantation
2026

Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report.

Cureus
2026

Trust Your Gut: Recognizing Whipple's Disease Beyond the Intestine.

Cureus
2026

Cardiac Complications in Systemic Lupus Erythematosus: A Systematic Review of Diagnostic and Prognostic Gaps.

Cureus
2026

Traumatic Cervical Myelopathy Masked by Alcohol Intoxication and Diagnostic Anchoring.

Cureus
2026

Late Presentation of Brachial Plexus Traction Injury After Fixation of Chronic Clavicle Nonunion Mimicking Brachial Plexitis: A Case Report and Literature Review.

Cureus
2026

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

Clinical case reports
2026

Endovascular Revascularization Followed by Isolated Popliteal Artery Decompression for Popliteal Artery Entrapment Syndrome: A Multicenter Retrospective Comparative Study.

Annals of vascular surgery
2026

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

European journal of pediatrics
2026

Survival From Severe Carbon Monoxide Intoxication Complicated By Aspiration ARDS: A Case for Sequential Management Approach.

Pediatric pulmonology
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

Artificial intelligence applications in emergency triage for suspected acute coronary syndrome: a systematic review.

International journal of medical informatics
2026

Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series.

The American journal of case reports
2026

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.

American journal of medical genetics. Part A
2026

Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.

Journal of clinical immunology
2026

Generation of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy.

Stem cell research
2026

An Integrated Prehospital Point-of-Care Lung Ultrasound Protocol for Patients with Dyspnea.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2026

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Clinical genetics
2026

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

Congenital anomalies
2026

Delayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.

BMJ case reports
2026

Impact of Intensive Cyclophosphamide-Containing Multi-Agent Bridging Therapy on Outcomes after Idecabtagene Vicleucel in Multiple Myeloma.

Transplantation and cellular therapy
2026

Delayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity.

Stem cell reports
2026

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

Neurology
2026

Differential modulation of haematopoietic and oxidative injury by PARP-1 and ATR kinase inhibition in a murine model of acute irradiation.

PloS one
2026

Rapidly progressive varicella zoster virus vasculopathy in a chemotherapy- and steroid-immunosuppressed patient with refractory diffuse large B-cell lymphoma: diagnostic and therapeutic challenges.

Blood research
2026

[Postthrombotic syndrome: an update].

Dermatologie (Heidelberg, Germany)
2026

Cauda equina syndrome caused by intradural migration of a bullet: A rare case presentation.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma &amp; emergency surgery : TJTES
2026

Predictive Factors for the Occurrence of Low Anterior Resection Syndrome after Surgical Intervention.

Chirurgia (Bucharest, Romania : 1990)
2026

One-month early time-restricted eating mitigates brain aging and enhances memory in males with metabolic syndrome: an MRI structural study.

Frontiers in aging
2026

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

Frontiers in neurology
2026

Case Report: A patient with metastatic fumarate hydratase-deficient renal cell carcinoma associated with leiomyomatosis: real-world clinical insights on systemic therapy and liver-directed SBRT.

Frontiers in oncology
2026

The role of PYY in improving insulin resistance.

Frontiers in endocrinology
2026

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

Frontiers in genetics
2026

Traumatic Liver Injury With Delayed Bleeding After Extracorporeal Cardiopulmonary Resuscitation.

Cureus
2026

A Presumed Dysphagia Aortica in a Siamese Cat.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2026

Predictors of Survival and Length of Stay in Steven Johnson syndrome and toxic epidermal necrolysis: A single centre retrospective study of 111 patients.

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

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

BMJ case reports
2026

Differential Diagnosis of Eosinophilic Lung Diseases.

The journal of allergy and clinical immunology. In practice
2026

Early Recovery Trajectories Predict Achievement of a Patient-Acceptable Symptom State After Open and Endoscopic Carpal Tunnel Release.

The Journal of hand surgery
2026

Cardiac herniation after surgically induced pericardial defects: A systematic review.

Turk gogus kalp damar cerrahisi dergisi
2026

An Overview of Red Breast Syndrome: A Qualitative Systematic Review of the Literature and a Single-center Case Series.

Aesthetic surgery journal
2026

Delayed Diagnosis of Sheehan's Syndrome Following Postpartum Hemorrhage and Emergency Hysterectomy: A Case Report.

Cureus
2026

Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.

Frontiers in genetics
2026

Unilateral vulvar hematoma after laparoscopic detorsion of the ipsilateral ovary following oocyte retrieval for IVF: A case report and review of anatomy and surgical planning.

Case reports in women's health
2026

Experimental adaptation of pigeon rotavirus A (pRVA) in human colorectal cancer cells reveals interferon-driven host responses and immune checkpoint modulation.

New microbes and new infections
2026

Delayed cauda equina compression caused by BioGlue®-induced granulomatous reaction following spinal dural repair: A case report.

Surgical neurology international

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
    Frontiers in pediatrics· 2026· PMID 41878457mais citado
  2. Back pain in an adolescent: not just a sore spine!
    Ecancermedicalscience· 2026· PMID 41877742mais citado
  3. Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.
    European heart journal. Case reports· 2026· PMID 41877722mais citado
  4. Second allogeneic stem cell transplantation for XMEN disease.
    BMJ case reports· 2026· PMID 41871900mais citado
  5. Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
    PloS one· 2026· PMID 41871109mais citado
  6. Mast cell mediators in hereditary angioedema.
    Orphanet J Rare Dis· 2026· PMID 41832580recente
  7. Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
    Int J Mol Sci· 2026· PMID 41828453recente
  8. Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
    Orphanet J Rare Dis· 2026· PMID 41827036recente
  9. The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
    Orphanet J Rare Dis· 2026· PMID 41821052recente
  10. Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
    Orphanet J Rare Dis· 2026· PMID 41821046recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:397612(Orphanet)
  2. OMIM OMIM:615637(OMIM)
  3. MONDO:0014289(MONDO)
  4. GARD:17630(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)

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 macrocefalia-perturbação do desenvolvimento
Compêndio · Raras BR

Síndrome de macrocefalia-perturbação do desenvolvimento

ORPHA:397612 · MONDO:0014289
Prevalência
<1 / 1 000 000
Casos
9 casos conhecidos
Herança
Autosomal recessive
CID-10
Q75.3 · Macrocefalia
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4706573
Evidência
🥉 Relato de caso
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