Below you'll find a list of all posts that have been tagged as “genetic disorder”
Overview Autism or Autism Spectrum Disorder (ASD) refers to a complex neurobehavioral condition that in most cases results in a lifelong developmental disability. This implies that people with Autism exhibit impairments in communication, social functioning, and behavior. The disorder appears to …
Overview Melkersson-Rosenthal Syndrome (MRS) is a rare condition of the neurological system distinguished by a classic triad of symptoms that comprises of long-term and recurring facial swelling especially affecting the lips, development of folds in the tongue (fissured tongue), and …
Overview Wolfram syndrome is a rare genetic condition which affects several systems at the same time thus producing a classic set of symptoms. It is characterized by the occurrence of diabetes insipidus, juvenile-onset diabetes mellitus, optic atrophy (damage of optic …
Overview Peutz-Jeghers Syndrome (PJS) is a rare genetic condition with an estimated prevalence of 1 in 25,000 to 300,000 births and consists primarily of multiple outgrowths called hamartomatous polyps lining the mucous membrane of the gut. These polyps are benign …
Overview Cystinosis or neuropathic cystinosis is an inherited (autosomal recessive) lysosomal storage disorder which results in the accumulation of the amino acid cysteine in various organs of the body due to a defect in their transport out of the lysosomes. …
