Approximately 6-7% of newborns have congenital anomalies. The causes these anomalies are genetic-based, environmental, or multifactorial. cause almost 50% is not fully known. There many specific birth defects as part the syndromes. Even though syndromes complex, they use common signaling pathways in developmental process. Because complex nature disorders, different types model systems necessary...

This article presents the updated, modified classification and definitions of epileptic syndromes, proposed by consensus International League Against Epilepsy (ILAE) task force. The ILAE report suggests a nosological revision epilepsy syndromes with onset in childhood, which are subdivided into three categories: (1) self-limited focal epilepsies; (2) genetic generalized (3) developmental and/or...

There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpe...

Human colon cancer is a multi-factorial, multi-step disease wherein genetic and dietary factors represent important regulators of initiation, promotion and progression. While the etiology of sporadic colon cancer remains largely unidentified, familial adenomatous polyposis (FAP) and hereditary non-polyposis colon cancer (HNPCC) represent predisposing genetic syndromes for early-onset familial/h...

Objectives: The aim of the present article is to describe the clinical features and genetic conditions of the clinical syndromes/association characterized by facial dysmorphism, mental retardation, and aortic dilation, and compare with those of the syndromes with facial dysmorphism, mental retardation, and aortic stenosis. Methods: International literature of the syndromes characterized by faci...

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS i...

(Brain) tumors are usually a disorder of aged individuals. If a brain tumor occurs in a child, there is a possible genetic susceptibility for this. Such genetic susceptibilities often show other signs and symptoms. Therefore, every child with a brain tumor should be carefully evaluated for the presence of a "tumor predisposition syndrome." Here, we provide an overview of the various central ner...

Our understanding of the genetics and pathology of familial colorectal cancer continues to evolve with both the discovery of underlying genetic defects and the description of entirely new entities. Genetic analysis has demonstrated phenotypic overlap between some of these syndromes, such that their nosology is rapidly becoming based on genetics with clinicopathological features playing a second...

PURPOSE OF REVIEW Congenital myasthenic syndromes are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined. RECENT FINDINGS Besides...

OBJECTIVES Traditional Chinese Medicine (TCM) applied in the clinic as a complementary and alternative therapy has helped improve immunity and reduce side effects and symptomatic treatment in patients with HIV/AIDS. However, the mechanisms of TCM syndromes are not clear. Transcriptomics enables the study of such TCM syndromes. DESIGN This study compared the messenger RNA (mRNA) expressions of...