Park, Jong Eun Lee, Taeheon Ha, Kyeongsu Ki, Chang-Seok
Published in
Orphanet Journal of Rare Diseases
BackgroundSmith–Lemli–Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive facial features, genital abnormalities, and 2–3 syndactyly of the toes. SLOS is caused by defective 7-dehydrocholesterol reductase, w...
Hosen, Mohammad Jakir Anwar, Saeed Taslem Mourosi, Jarin Chakraborty, Sourav Miah, Md. Faruque Vanakker, Olivier M.
Published in
Orphanet Journal of Rare Diseases
With the advancements in genetics and genomics in the twenty-first century, genetic services have become an integral part of medical practices in high-income and upper-middle-income countries. However, people living in low and lower-middle-income countries (LICs and LIMCs), including Bangladesh, are rather underprivileged in receiving genetic servi...
Dworschak, Gabriel C. Reutter, Heiko M. Ludwig, Michael
Published in
Orphanet Journal of Rare Diseases
BackgroundThe triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal–ventral patterning defects during embryonic development. The major causative CS gene is MNX1, encoding a homeobox protein.Main bodyIn the majority of patients, CS occurs as an autosomal dominant t...
Grant, Nathan
Published in
Orphanet Journal of Rare Diseases
The mucopolysaccharidoses (MPS) are a group of rare, genetic, lysosomal storage disorders characterized by progressive, multisystemic accumulation of glycosaminoglycans. Individuals with severe MPS often present with significant neurological involvement and may exhibit challenging behaviors, including hyperactivity, aggression, and sleep disturbanc...
Paglialonga, Alessia Gaetano, Raffaella Robert, Leema Hurard, Marine Botella, Luisa Maria Barr, Natasha Jondeau, Guillaume Pini, Alessandro
Published in
Orphanet Journal of Rare Diseases
BackgroundThe European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG)...
Shafie, Asrul Akmal Wong, Jacqueline Hui Yi Ibrahim, Hishamshah Mohd Mohammed, Noor Syahireen Chhabra, Irwinder Kaur
Published in
Orphanet Journal of Rare Diseases
BackgroundTransfusion-dependent thalassaemia (TDT) is a hereditary blood disorder in which blood transfusion is the mainstay treatment to prolong survival and improve quality of life. Patients with this disease require blood transfusion at more than 100 ml/kg annually and iron-chelating therapy (ICT) to prevent iron overload (IOL) complications. Th...
Dai, Qianwen Xu, Baolin Wu, Huanwen You, Yan Wu, Ming Li, Lei
Published in
Orphanet Journal of Rare Diseases
BackgroundThe prognosis of recurrent low-grade endometrial stromal sarcoma (LGESS) is little known. This study was to investigate the survival outcomes of a cohort of patients with recurrent LGESS.MethodsPatients with primary LGESS diagnosed and treated for first recurrence confirmed by histology in the study center from February 2012 to June 2019 ...
Fredwall, Svein O. Øverland, Britt Berdal, Hanne Berg, Søren Weedon-Fekjær, Harald Lidal, Ingeborg B. Savarirayan, Ravi Månum, Grethe
Published in
Orphanet Journal of Rare Diseases
BackgroundPrevious studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking.ObjectivesThis population-based, cross-sectional study investigated the prevalence, severity, and predictive factors of OSA in Norwegian adults ...
Magliano, Lorenza Obici, Laura Sforzini, Claudia Mazzeo, Anna Russo, Massimo Cappelli, Francesco Fenu, Silvia Luigetti, Marco Tagliapietra, Matteo Gemelli, Chiara
...
Published in
Orphanet Journal of Rare Diseases
BackgroundHereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s functional autonomy negatively affects the patient’s quality of life and requires increasing involvement of relativ...
Liu, Meijuan Liu, Min Liang, Xuejun Wu, Di Li, Wenjing Su, Chang Cao, Bingyan Chen, Jiajia Gong, Chunxiu
Published in
Orphanet Journal of Rare Diseases
BackgroundHypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried out in the Chinese population with HPP, especially in children.MethodsThe clinical and genetic characteristics of 10 Chinese ch...
