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Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far. The majority of neurode...
Naxos disease variant (Carvajal syndrome) is a cardiocutaneous genetic disease caused by Plakoglobin and Desmoplakin gene mutation, and usually manifests with woolly hair, palmoplantar keratoderma, and cardiom...
Duchenne muscular dystrophy (DMD) patients are monitored periodically for cardiac involvement, including cardiac MRI with gadolinium-based contrast agents (GBCA). Texture analysis (TA) offers an alternative ap...
Urea cycle disorders (UCDs) are rare inborn errors of metabolism which impact the body’s ability to detoxify ammonia produced during protein metabolism. In the UK, there is a nationally adopted guideline for t...
Gorham-Stout disease (GSD) is a rare complex lymphatic malformation. Since its initial description in 1838, only approximately 400 patients have been documented. There is currently no consensus on the diagnost...
Primary sclerosing cholangitis (PSC) is a rare, chronic cholestatic disease that can progress to cirrhosis and liver failure. The natural history of PSC is variable as liver enzymes and liver symptoms fluctuat...
Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder, caused by haploinsufficiency of the SHANK3 gene. In addition to global developmental delay (GDD)/intellectual disability (ID) and autism spectrum d...
This study seeks to elucidate the clinical and biochemical features of Ornithine transcarbamylase deficiency (OTCD), a pleomorphic congenital hyperammonemia disorder with a non-specific clinical phenotype. Add...
Mutations in the TK2 gene are strongly associated with mitochondrial DNA depletion syndrome (MDS), a severe condition with high mortality and poor outcomes. Although many MDS cases are reported, those linked to T...
The rarity of pregnancies in women with arthrogryposis multiplex congenita (AMC) could lead to healthcare providers having limited exposure to these cases. Consequently, they may be less familiar with the poss...
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe mucocutaneous fragility disorder due to mutations in the COL7A1 gene encoding collagen VII, the major constituent of anchoring fibrils essent...
Bardet–Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to desc...
Down Syndrome Regression Disorder (DSRD) is an acute or subacute neurocognitive regression in individuals with Down syndrome (DS), characterized by a loss of previously acquired cognitive, adaptive, and social...
Clinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset o...
46, XY disorders of sex development (DSD) and aceruloplasminaemia (ACP) are very rare genetic disorders, and no cases of the coexistence of both disorders have been reported. In ACP patients, iron overload in ...
Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs...
Propionic acidemia (PA) is a severe organic acidemia that can result in multi-organ damage and is potentially fatal. The rarity of this disease and the limited number of reported cases contribute to a lack of ...
Multiple acyl-coenzyme A (CoA) dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from mutations in the ETFDH gene. It is characterized by a wide spectrum of clinical symptoms, of which ...
Living with children with disabilities has a significant impact on parental health-related quality of life (HRQoL) and family functioning. Barth syndrome (BTHS) is a rare, X-linked disorder that primarily affe...
The original article was published in Orphanet Journal of Rare Diseases 2024 19:460
To explore the natural history of protrusio acetabuli (PA) in adults with Marfan syndrome (MFS) via a prospective 10-year follow-up study.
The current development of gynecology services for children and adolescents seeks to meet needs both in the overall population and in patients with rare diseases. In France, the referral center for rare gyneco...
This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia conditions across three centr...
Myasthenia gravis (MG) is a rare autoimmune disorder. Several new treatment concepts have emerged in recent years, but access to these treatments varies due to differing national reimbursement regulations, lea...
Achondroplasia is one of the most prevalent forms of skeletal dysplasia. Lifelong follow-up by an experienced multidisciplinary team is required, particularly during the first 2 years. In 2021, international c...
As new therapies for Duchenne muscular dystrophy (DMD) are entering the market, shared decision making (SDM) will become increasingly important. Therefore, this study aimed to understand (1) Belgian stakeholde...
Rare and complex diseases can have a significant impact on family life, and managing the reproductive aspects of patients of childbearing age with rare diseases is often difficult and complex.
Post-infectious bronchiolitis/bronchitis obliterans (PIBO) is a chronic irreversible obstructive lung disease that results in obstruction and/or obliteration of small airways. Previous reports have indicated t...
Cognitive deficits related to frontotemporal dysfunction are common in Amyotrophic Lateral Sclerosis (ALS). Visuospatial deficits, related to posterior cerebral regions, are often underestimated in ALS, though...
Despite the considerable burden that hereditary hemorrhagic telangiectasia (HHT) imposes, few studies have investigated its effect on health-related quality of life (HRQoL). We aimed to assess the impact of HH...
Pathogenic HSD17B10 gene variants cause HSD10 mitochondrial disease (HSD10 MD), which results in a wide spectrum of symptoms ranging from mild to severe. Typical symptoms include intellectual disability, choreoat...
Rare disease prevalence rates are increasing rapidly worldwide, as are the cost of orphan indication drugs used to treat them, posing significant strain on many healthcare systems. In response, a set of tensio...
Patients with classical homocystinuria (HCU) are unable to metabolize homocysteine and rely on dietary treatment to reduce their risk of complications (e.g., thromboembolism, cognitive impairment). Little is k...
Skeletal dysplasias are rare disorders affecting bone growth and development that impact functional performance. In Australia, the National Disability Insurance Scheme (NDIS) was rolled out in 2016 to support ...
Inherited metabolic disorders (IMDs) are heritable conditions that affect up to 125:100,000 people worldwide. In addition to severe disabling forms that require continuous and costly assistance in both pediatr...
This retrospective study aims to evaluate the relative representation of individual types of developmental odontogenic cysts (DOCs), especially from the perspective of syndromic and non-syndromic multiple DOCs...
Pulmonary Alveolar Proteinosis (PAP) is a rare interstitial lung disease with diverse clinical manifestations and outcomes. However, there are limited data on the heterogeneity of PAP, as well as its prognosis...
This study aims to explore the research hotspots and trends of urea cycle disorders through bibliometric analysis.
To investigate prognostic factors related with parathyroid carcinoma (PC) based upon ultrasound (US) parameters and parafibromin expression.
The POMT2 gene, which encodes protein O-mannosyltransferase 2, is essential for α-dystroglycan glycosylation. Variants in POMT2 cause various disorders, including the relatively rare presentation of limb-girdle m...
Primary ciliary dyskinesia (PCD), a rare ciliopathy disorder, is caused by variants in multiple genes, with DNAH5 being one of the most frequently implicated. However, the precise relationship between variant typ...
Oxytocin (OT) plays an important role in modulating behavior, social interactions and feeding. Prader–Willi syndrome (PWS), a rare genetic neurodevelopmental disorder, is a model of hypothalamic disorder inclu...
Hereditary transthyretin amyloidosis (ATTRv) should be considered in patients diagnosed with intravenous immunoglobulin (IVIg)-resistant chronic inflammatory demyelinating polyradiculoneuropathy (IVIg-NR CIDP)...
There has been concern that individuals living with Hereditary Hemorrhagic Telangiectasia (HHT) could be at higher risk for poor outcomes if infected with SARS-CoV2, the virus that causes COVID-19 disease. As ...
Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporph...
Titin truncating variants (TTNtv-s) are the most common genetic cause of dilated cardiomyopathy (DCM). Only rare TTNtv-s in the constitutively expressed exons of the A-band of the protein titin are associated wit...
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease caused by insufficient functional survival motor neuron protein (SMN). The SMN expression level in the spinal cord is highest during the ...
Achondroplasia, a disease characterized by disproportionate short stature and increased morbidity, affects daily function and quality of life over the lifetime of the individual. However, data are limited on i...
Disorder-related variants in the STXBP1 gene are increasingly detected in children with severe developmental disorders. It is commonly acknowledged that developmental disorders significantly impact family life, b...
Orphanet Journal of Rare Diseases