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Adverse fetal growth outcomes (AFGO), primarily characterized by small-for-gestational age (SGA), large-for-gestational age (LGA), low birth weight (LBW) neonates, and macrosomia (Mac), present substantial cha...
Rare diseases are chronic, progressive, and debilitating conditions, affecting 3.5–5.9% of the global population. Clinical research studies are crucial for developing new diagnostic approaches and treatments a...
Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, conve...
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by SMPD1 mutations, resulting in sphingomyelin accumulation and diverse manifestations. Olipudase alfa, an enzyme replacement th...
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one’s health-related quality of life (HRQoL) because of pain from phototoxic reactions and th...
Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive organic acidaemia. This paper aimed to describe the clinical, biochemical and molecular features of four Chinese patients with HLCS defici...
The original article was published in Orphanet Journal of Rare Diseases 2025 20:300
To conduct a visualization analysis of macrodactyly research from 2005 to 2024, providing a comprehensive overview of research trends, key contributors, and emerging topics.
Xanthogranulomatous inflammation is a rare chronic inflammatory condition. It has been described in the long bones, and can affect various organs, including the salivary glands, gallbladder, kidneys, and gastr...
Metabolic control in the phenylketonuria (PKU) population is challenging. Perceived barriers to treatment adherence have been shown to be associated with metabolic control outcomes. The objective of this study...
There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic diagnostic re...
Pathogenic variations affecting the ryanodine receptor 1 (RYR1) gene may result in a variety of neuromuscular disorders, collectively known as RYR1-related myopathies. Considered the most common form of congenita...
Glycosylation is a post-translational modification of proteins that involves the addition of glycan groups and is essential for their proper functionality. This highly complex process affects 70% of all human ...
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) with comorbid autism and several support requirements. Challenging behaviors are frequently reported as a main concer...
Pancreatic metastasis of gestational trophoblastic neoplasia (GTN) is extremely rare, with only a few reported cases.
Spasticity is a hallmark of hereditary spastic paraplegia (HSP) and contributes to gait impairment. Alpinia zerumbet oil (Ziclague®) is a topical anti-spastic agent approved in Brazil, but not yet explored in HSP...
Coronavirus disease 2019 (COVID-19) primarily induces respiratory symptoms. However, some patients develop thrombotic microangiopathies (TMA) during their infection. This study aimed to compare the incidence a...
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder caused by mutations in the type VII collagen gene, leading to mucocutaneous blistering. Subsequent inflammation contributes to chronic w...
The original article was published in Orphanet Journal of Rare Diseases 2025 20:450
This article is part of a Supplement: Volume 20 Supplement 2
Natural history data show that respiratory function is impaired in SMA patients. Observational studies have shown stabilization of respiratory function in adult SMA patients treated with nusinersen. However, l...
Sickle cell disease (SCD) is a chronic inherited blood disorder caused by abnormal haemoglobin production, affecting over seven million people worldwide. Although pain—particularly acute bone pain—is the hallm...
Hereditary transthyretin (ATTRv) amyloidosis is a rare, intractable genetic disorder caused by mutations in the transthyretin (TTR) gene. More than 150 TTR mutations have been identified, along with genotype-phen...
Rett Syndrome (RTT) is a rare, and severe neurodevelopmental disorder that primarily affects females and is primarily (> 96%) due to pathogenic loss-of-function genetic variants of methyl-CpG-binding protein 2...
Peri-and postoperative complications and recurrences are associated with the endoscopic surgical procedures for neuroendocrine tumors of the digestive system. This study aimed to evaluate the long-term outcome...
Rare genetic disorders are increasingly diagnosed due to advancing genetic technology, whilst, treatment for them is challenging. Therefore, their prevention by prenatal diagnosis is a way forward to reduce th...
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical pattern of muscle involvement, yet it encompasses a wide spectrum of phenotypes, including less common features that remain incomplet...
Primary ciliary dyskinesia (PCD; MIM 244400) is a genetic disorder, and its morbidity has been previously underestimated. Mutations in ciliary proteins underlie the disease, resulting in ciliary dysfunction. D...
Late-onset Anderson-Fabry disease appears in adulthood, usually with prevalent cardiac involvement. The N215S (p.Asn215Ser) missense mutation represents the most frequent late-onset variant in European countri...
Longitudinally extensive transverse myelitis (LETM) is a rare neurological disease. A case series evaluated the predictors of a long-term clinical outcome. However, there is limited data on predictors of funct...
The original article was published in Orphanet Journal of Rare Diseases 2024 19:227
Cellular senescence is a biological process in which the cell cycle is arrested in response to DNA damage caused by different endogenous and exogenous stimuli. In senescent cells, activation of intracellular c...
Patients with neuromuscular diseases (NMD) have undergone considerable technological progress in terms of diagnosis and treatment over the past few years. Specifically, next-generation sequencing (NGS) has sig...
Cystinosis is a rare genetic disorder, with the majority of patients suffering from infantile nephropathic cystinosis, the most severe form. If left untreated, cystinosis causes serious morbidity, initially th...
Bardet-Biedl Syndrome (BBS) is a rare obesogenic disorder affecting multiple organs. The diagnosis of BBS is usually difficult and delayed due to this syndrome’s wide variety of clinical features. This study a...
There is increasing evidence of health outcome disparities due to inequitable healthcare. These inequities are likely compounded in rare disease care and research. We aimed to identify disparities in access to...
Generalized Pustular Psoriasis (GPP) is a rare but severe form of psoriasis, characterized by flares involving the sudden spread of erythema with sterile pustules, crusting, and scaling.
Niemann–Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration. This study aimed to characterize the clinical features and treatment ...
Human umbilical cord mesenchymal stem cells (HUMSCs) are effective therapies for inflammatory bowel disease. However, the mechanisms remain unresolved. We found HUMSCs express CD126 (IL-6 receptor), which indi...
To described clinical and genetic characteristics of 4 patients presenting A20 haploinsufficiency (HA20) treated at Children’s hospital affiliated to Zhengzhou university from 2015 to 2024.
Vanishing White matter (VWM) is one of the more prevalent leukodystrophies, caused by biallelic pathogenic variants in any of the EIF2B1–5 genes. It is characterized by chronic progressive neurological deteriorat...
This analysis was aimed to characterize cutaneous manifestations associated with tuberous sclerosis complex (TSC) and management of facial angiofibroma in the United States from a patient/caregiver perspective...
Lysosomal storage diseases (LSDs) is a large group of genetically heterogeneous inherited metabolic disorders that affect the functions of the lysosomes in various human tissues. Mucopolysaccharidosis type III...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy, and an increased incidence of dia...
There are no validated measures to assess hyperphagia associated with rare MC4R pathway diseases, such as Bardet-Biedl Syndrome (BBS). Symptoms of Hyperphagia© (SoH) and Impacts of Hyperphagia© (IoH) are novel...
Late-onset Pompe disease (LOPD) is a rare inherited genetic condition caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. LOPD causes progressive muscle dysfunction and dam...
Genetic counselling for adolescents necessitates an approach distinct from that used with adults. Developing best practices is crucial, considering the growing number of disabled adolescents worldwide and incr...
The Correction to this article has been published in Orphanet Journal of Rare Diseases 2025 20:478
Familial Mediterranean Fever (FMF) is an auto inflammatory disease often accompanied by fever and serositis attacks in which peritoneum, pleura, synovium, and rarely pericardium are spared. In the study, the e...
cblC deficiency is the most common organic acidemia in China. Hydroxocobalamin (OHCbl) is the main important therapeutic approach, while no approved protocols on its dosage during stable periods exist. This st...
Lafora disease (LD) is an ultra-rare, autosomal recessive neurodegenerative disorder characterized by the accumulation of Lafora bodies in the brain, leading to drug-resistant epilepsy, myoclonus, progressive ...
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