Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
Published on BioPortfolio: 2014-09-18T14:20:49-0400
Clinical Trials
Frequency of Metabolic Syndrome in Down Syndrome Patients
The aim of this study is to assess the frequency of metabolic syndrome in Down syndrome patients because the prevalence of diabetes mellitus and obesity is higher in individuals with Down ...
Metabolic Syndrome as Consequence of Lipodystrophy Syndrome
To evaluate the prevalence of metabolic syndrome in HIV-infected patients with previous evaluation of lipodystrophy syndrome, according to the severity of fat accumulation and antiretrovir...
Bohring-Opitz Syndrome and ASXL Registry
A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome(ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
The purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome. The goal is to provide a greater understanding of Leigh ...
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Tre...
PubMed Articles
Essentially, preexcitation syndrome is the presence of an accessory pathway in the heart, which can lead to serious consequences, ranging from atrioventricular reentrant tachycardia to sudden cardiac ...
A Unique Genomic Variant of HDR Syndrome in Newborn.
HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.
Severe gynaecological involvement in Proteus Syndrome.
Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological ...
French consensus: Augmentation syndrome in restless legs syndrome.
Augmentation syndrome is one of the most severe complications of RLS. It is characterised by a worsening of treated symptoms; principally an increase in the severity of symptoms and an earlier onset t...
Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits. Patients with this syn...
Medical and Biotech [MESH] Definitions
22q11 Deletion Syndrome
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Costello Syndrome
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Loeys-dietz Syndrome
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Agenesis Of Corpus Callosum
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Plummer-vinson Syndrome
A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom.
